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Journal articles on the topic 'Rhabdoid Tumor (MRT)'

Author: Grafiati

Published: 7 June 2025

Last updated: 2 August 2025

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1

Duncan, Virginia E., Jason A. Wicker, David R. Kelly, and Rong Li. "TLE1 Expression in Malignant Rhabdoid Tumor and Atypical Teratoid/Rhabdoid Tumor." Pediatric and Developmental Pathology 21, no. 6 (2018): 522–27. http://dx.doi.org/10.1177/1093526618761720.

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Malignant rhabdoid tumors (MRT; atypical teratoid/rhabdoid tumor [ATRT] in the central nervous system) are aggressive tumors in infants and children which can overlap with other sarcomas, such as synovial sarcoma (SS). The gold standard for SS diagnosis is characterization of the t(X;18) chromosomal translocation. However, stratification of cases for molecular analysis is not always straightforward or feasible. Recent literature suggests transducer-like enhancer of split 1 (TLE1) protein expression may distinguish SS from certain histologic mimics; however, this has not been investigated in MR

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Fazlollahi, Ladan, Susan J. Hsiao, Manpreet Kochhar, Mahesh M. Mansukhani, Darrell J. Yamashiro, and Helen E. Remotti. "Malignant Rhabdoid Tumor, an Aggressive Tumor Often Misclassified as Small Cell Variant of Hepatoblastoma." Cancers 11, no. 12 (2019): 1992. http://dx.doi.org/10.3390/cancers11121992.

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The clinical management of pediatric liver tumors involves stratification into risk groups. One previously defined, high-risk group of hepatoblastomas is the small cell undifferentiated variant. In light of molecular studies showing SMARCB1 deletion in these tumors, it is now recognized that most small cell, undifferentiated liver tumors represent an aggressive unrelated tumor—the malignant rhabdoid tumor (MRT). SMARCB1 is a member of the chromatin remodeling SWI/SNF complex and encodes the INI1 protein. The histologic diagnosis of MRT is currently based on INI1 negative immunoreactivity and t

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Gruhle, Miriam, Karolina Nemes, Mona Steinbügl, et al. "ATRT-14. Malignant rhabdoid tumors of cranial nerves – ATRT or extracranial rhabdoid tumor?" Neuro-Oncology 24, Supplement_1 (2022): i5—i6. http://dx.doi.org/10.1093/neuonc/noac079.013.

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Abstract INTRODUCTION: Malignant rhabdoid tumors (MRT) are highly aggressive neoplasias mostly affecting young children. They are classified as rhabdoid tumors of the central nervous system (ATRT, atypical teratoid rhabdoid tumor), rhabdoid tumors of the kidney (RTK) or extracranial rhabdoid tumors arising from any soft tissue outside the central nervous system (eMRT, extracranial extrarenal MRT). We report a series of four MRTs with cranial nerve involvement. METHODS: Patients were identified from a cohort of 132 patients with MRT (2017 – 2021), as part of the European Rhabdoid Registry (EU-R

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Rahman, J., E. Wei, and K. Knowles. "Malignant Rhabdoid Tumor masquerading as Neuroblastoma: A rare Case-report." American Journal of Clinical Pathology 162, Supplement_1 (2024): S129—S130. http://dx.doi.org/10.1093/ajcp/aqae129.286.

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Abstract Introduction/Objective Malignant rhabdoid tumors (MRT) predominantly impact infants and young children, typically occurring around the age of 15 months. While they can emerge from soft tissues throughout the body, but commonly initiate in the kidneys. Neuroblastoma-like characteristics are seldom observed within the varied phenotypes of malignant rhabdoid tumors. Here, we present an exceptionally rare and distinctive subtype of malignant rhabdoid tumor exhibiting features akin to neuroblastoma localized within the unusal parapharyngeal space. Methods/Case Report A 2-month-old female p

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Guilmette, Julie, Caroline Laverdière, Denis Soulières, et al. "Malignant Rhabdoid Tumor of Soft Tissue." Pediatric and Developmental Pathology 20, no. 3 (2017): 262–66. http://dx.doi.org/10.1177/1093526617706814.

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Introduction Malignant rhabdoid tumor (MRT) is defined as a high-grade sarcoma derived from an uncertain cell of origin. Its diagnosis is associated with poor prognosis and patient’s life expectancy is greatly reduced. Material and method Here, we describe a unique case of 9-month-old boy who presented with a large MRT arising from the soft tissue of the neck. Following intensive multimodal treatment, the patient benefited from a 25 years’ remission until the discovery of multiple liver metastases. Conclusion MRT of soft tissue needs to be distinguished from other soft tissue neoplasms, as MRT

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Kenny, Colin, Elaine O’Meara, Mevlüt Ulaş, Karsten Hokamp, and Maureen J. O’Sullivan. "Global Chromatin Changes Resulting from Single-Gene Inactivation—The Role of SMARCB1 in Malignant Rhabdoid Tumor." Cancers 13, no. 11 (2021): 2561. http://dx.doi.org/10.3390/cancers13112561.

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Human cancer typically results from the stochastic accumulation of multiple oncogene-activating and tumor-suppressor gene-inactivating mutations. However, this process takes time and especially in the context of certain pediatric cancer, fewer but more ‘impactful’ mutations may in short order produce the full-blown cancer phenotype. This is well exemplified by the highly aggressive malignant rhabdoid tumor (MRT), where the only gene classically showing recurrent inactivation is SMARCB1, a subunit member of the BAF chromatin-remodeling complex. This is true of all three presentations of MRT inc

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Pawel, Bruce R. "SMARCB1-deficient Tumors of Childhood: A Practical Guide." Pediatric and Developmental Pathology 21, no. 1 (2017): 6–28. http://dx.doi.org/10.1177/1093526617749671.

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The SMARCB1 gene ( INI1, BAF47) is a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex, involved in the epigenetic regulation of gene transcription. SMARCB1 acts as a tumor suppressor gene, and loss of function of both alleles gives rise to SMARCB1-deficient tumors. The prototypical SMARCB1-deficient tumor is the malignant rhabdoid tumor (MRT) which was first described in the kidney but also occurs in soft tissue, viscera, and the brain (where it is referred to as atypical teratoid rhabdoid tumor or AT/RT). These are overwhelmingly tumors of the very young, an

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8

Attia, Adel, Moosa Suleman, and Hesham Mosleh. "Malignant Rhabdoid Tumor of the Lung in the Young Adult: A Case Report." Case Reports in Pulmonology 2011 (2011): 1–4. http://dx.doi.org/10.1155/2011/323584.

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Malignant rhabdoid tumor (MRT) is one of the most aggressive and lethal malignancies in pediatric oncology. Malignant rhabdoid tumor was initially described in 1978 as a rhabdomyosarcomatoid variant of a Wilms tumor because of its occurrence in the kidney and because of the resemblance of its cells to rhabdomyoblasts. The absence of muscular differentiation led Haas and colleagues to coin the term rhabdoid tumor of the kidney in 1981, Haas et al..

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Shirai, Ryota, Tomoo Osumi, Keita Terashima, et al. "ATRT-11. PREVALENCE OF GERMLINE VARIANTS IN SMARCB1 INCLUDING SOMATIC MOSAICISM IN AT/RT AND OTHER RHABDOID TUMORS." Neuro-Oncology 22, Supplement_3 (2020): iii277—iii278. http://dx.doi.org/10.1093/neuonc/noaa222.011.

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Abstract BACKGROUND Genetic hallmark of atypical teratoid/rhabdoid tumor (AT/RT) is loss-of-function variants or deletions in SMARCB1 gene on 22q11.2 chromosome, which is common to extracranial malignant rhabdoid tumors (MRT). Previous studies demonstrated that approximately one-thirds of AT/RT and extracranial MRT patients harbored germline SMARCB1 variants as the rhabdoid tumor predisposing syndrome. We studied herein intensive analysis of the SMARCB1 gene in AT/RT and extracranial MRT patients focusing on prevalence of germline genetic variants. PROCEDURE: In total, 16 patients were include

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Shatara, Margaret, Ajay Gupta, Mohamed H. Abu Arja, et al. "ATRT-21. RHABDOID PREDISPOSITION SYNDROME: REPORT OF MOLECULAR PROFILES AND TREATMENT APPROACH IN THREE CHILDREN WITH SYNCHRONOUS ATYPICAL TERATOID/RHABDOID TUMOR AND MALIGNANT RHABDOID TUMOR." Neuro-Oncology 22, Supplement_3 (2020): iii280. http://dx.doi.org/10.1093/neuonc/noaa222.020.

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Abstract BACKGROUND Rhabdoid predisposition syndrome is characterized by germline alterations in SMARCB1 or SMARCA4, leading to synchronous or metachronous central nervous system (CNS) and extra-CNS rhabdoid tumors. Rare survivors have been reported to date. METHODS We describe the molecular profiling and treatment regimen of three patients with synchronous atypical teratoid/rhabdoid tumor (ATRT) and malignant rhabdoid tumor of the kidney (MRT-K). All patients underwent radical nephrectomy of the kidney, and gross total resection of the primary CNS tumor was achieved for two patients. An inten

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Refaat, Alaa, Hyekyung Cho, Jennifer Stripay, et al. "Abstract C096: Targeting the p53 pathway to treat pediatric Malignant Rhabdoid and Atypical Teratoid Rhabdoid Tumors." Molecular Cancer Therapeutics 22, no. 12_Supplement (2023): C096. http://dx.doi.org/10.1158/1535-7163.targ-23-c096.

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Abstract Background: Pediatric rhabdoid tumors, namely Malignant Rhabdoid Tumors (MRTs) and Atypical Teratoid Rhabdoid Tumors (ATRTs) in the central nervous system (CNS), are aggressive pediatric malignancies characterized by the loss of functional INI1 protein due to SMARCB1 gene mutations. Current treatment options for these tumors are limited and ineffective, necessitating the exploration of novel therapeutic strategies. Rhabdoid cells retain an intact p53 pathway, a critical tumor suppressor pathway involved in regulating cell cycle and apoptosis. Previous studies have shown that the MDM2

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Horazdovsky, Ryan, J. Carlos Manivel, and Edward Y. Cheng. "Surgery and Actinomycin Improve Survival in Malignant Rhabdoid Tumor." Sarcoma 2013 (2013): 1–8. http://dx.doi.org/10.1155/2013/315170.

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Purpose. Malignant rhabdoid tumor (MRT) is an uncommon tumor that rarely occurs outside of renal and central nervous system (CNS) sites. Data from the literature were compiled to determine prognostic factors, including both demographic and treatment variables of malignant rhabdoid tumor, focusing on those tumors arising in extra-renal, extra-CNS (ER/EC MRT) sites. Patients and Methods. A systematic review and meta-analysis was performed by extracting demographic, treatment, and survival follow up on 167 cases of primary ER/EC MRT identified in the literature.Results. No survival differences we

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Fisher, B. J., J. Siddiqui, D. MacDonald, et al. "Malignant Rhabdoid Tlimor of Brain: An Aggressive Clinical Entity." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 23, no. 4 (1996): 257–63. http://dx.doi.org/10.1017/s0317167100038191.

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AbstractObjective: We report three patients with malignant rhabdoid tumor (MRT) of the brain, two children and an adult. There were three purposes to this report: to describe the clinical course in an adult with MRT; to describe the interesting histopathological metamorphosis of one of the tumors; and to report the outcome of the treatment regimens we used in order to help guide future treatment. Since these tumors are quite rare it is important to continue to try new regimens in the search for effective therapy rather than to repeat ineffective ones. Method: Report of three patients. Results:

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Andreeva, N. A., E. I. Lyudovskikh, D. M. Konovalov, et al. "SMARCA4-associated malignant rhabdoid tumors: case report and literature review." Russian Journal of Pediatric Hematology and Oncology 9, no. 2 (2022): 75–84. http://dx.doi.org/10.21682/2311-1267-2022-9-2-75-84.

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Malignant rhabdoid tumor (MRT) is a rare malignant neoplasm of childhood, characterized by an aggressive course and an extremely unfavorable prognosis. The frequency of MRT outside the central nervous system (extracranial MRT) is 0.02–0.03 per 100,000 children. In most cases, MRT is based on an inactivating mutations of the tumor suppressor gene SMARCB1, which leads to the absence of expression of the SMARCB1 ((INI1/hSNF5/BAF47) protein in tumor cells. Aberrations of the SMARCA4 gene, which is an extremely rare molecular event, have been described among the MRTs expressing SMARCB1 (INI1). Few

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Nemes, Karolina, Martin Benesch, Julia Kolerova, et al. "ATRT-04. Clinical and (epi)genetic characterisation of patients with atypical teratoid/rhabdoid tumor (ATRT) and extracranial malignant rhabdoid tumor conceived following assisted reproduction technologies (ART)." Neuro-Oncology 24, Supplement_1 (2022): i2. http://dx.doi.org/10.1093/neuonc/noac079.003.

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Abstract INTRODUCTION: Anecdotal case reports suggest an association between assisted reproduction technologies (ART) and malignant rhabdoid tumors (MRT). We performed a multi-institutional retrospective analysis of the EU-RHAB database, complemented by additional cases outside of EU-RHAB to compile clinical, (epi)genetic characteristics and outcome data of children with MRT following ART. METHODS: Data of 14 patients (from 311 patients with MRT) from 9 countries were analyzed (2010-2018). Tumors and matching blood samples were examined for SMARCB1 mutations using FISH, MLPA and sequencing. Mo

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Lupi, Giovanni, Rui Jin, and Claudio Clemente. "Malignant Rhabdoid Tumor of the Vulva: A Case Report and Review of the Literature." Tumori Journal 82, no. 1 (1996): 93–95. http://dx.doi.org/10.1177/030089169608200120.

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Malignant rhabdoid tumor (MRT) is an uncommon aggressive neoplasm which usually occurs in the kidney of children, but it has also been found in extrarenal sites. MRT arising in the vulva is extremely rare. Only four cases of MRT of the vulva have been reported in the English literature. We herein present another case. The diagnosis and management of vulva MRT are reviewed.

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Wood, Paul, Jayesh Desai, Kelly Waldeck, et al. "ATRT-08. A PHASE II STUDY OF CONTINUOUS LOW DOSE PANOBINOSTAT IN PAEDIATRIC PATIENTS WITH MALIGNANT RHABDOID TUMORS/ATYPICAL TERATOID RHABDOID TUMORS." Neuro-Oncology 22, Supplement_3 (2020): iii277. http://dx.doi.org/10.1093/neuonc/noaa222.008.

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Abstract BACKGROUND Panobinostat treatment has been shown to terminally differentiate malignant rhabdoid tumor (MRT)/atypical teratoid rhabdoid tumors (ATRT) in pre-clinical models. This is an open label, phase II study of panobinostat in patients with newly diagnosed or relapsed MRT/ATRT. AIMS: To assess the anti-tumor activity of low dose, continuous panobinostat, its associated toxicities, the biological activity of low dose panobinostat by measuring histone acetylation status in peripheral mononuclear cells (PMNC), and markers of differentiation in fresh tumor tissue specimens. METHODS Fol

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Ng, Wing Ki, Boon Ping Toe, and Hin Yue Lau. "Malignant Rhabdoid Tumor of the Mediastinum: A Case Report and Literature Review." Journal of Clinical Imaging Science 9 (March 28, 2019): 7. http://dx.doi.org/10.25259/jcis-9-7.

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Malignant rhabdoid tumor (MRT) of the mediastinum is an aggressive tumor that is extremely rare. To date, only 24 cases of the mediastinal MRT have been reported in adults and 9 cases in the pediatric age group under the age of 18 years. We report a rare case of such tumor and review the literature on its clinical and imaging features as well as its treatment and prognostic outcomes.

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Cooper, Garrett W., and Andrew L. Hong. "SMARCB1-Deficient Cancers: Novel Molecular Insights and Therapeutic Vulnerabilities." Cancers 14, no. 15 (2022): 3645. http://dx.doi.org/10.3390/cancers14153645.

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SMARCB1 is a critical component of the BAF complex that is responsible for global chromatin remodeling. Loss of SMARCB1 has been implicated in the initiation of cancers such as malignant rhabdoid tumor (MRT), atypical teratoid rhabdoid tumor (ATRT), and, more recently, renal medullary carcinoma (RMC). These SMARCB1-deficient tumors have remarkably stable genomes, offering unique insights into the epigenetic mechanisms in cancer biology. Given the lack of druggable targets and the high mortality associated with SMARCB1-deficient tumors, a significant research effort has been directed toward und

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Hasanpour, Mohammad, Sayedeh Fatemeh Sadatmadani, Bahar Sadeghi, Azar Baradaran, Vahid Mansouri, and Ehsan Keykhosravi. "Cranio-cervical Junction Malignant Extrarenal Rhabdoid Tumor: A Case Report." International Journal of Pediatrics 10, no. 12 (2024): 17192–99. https://doi.org/10.22038/ijp.2022.68792.5100.

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Case Report: A 2-year-old girl was referred with the chief complaint of limb weakness following a mild trauma. She had been suffering from restlessness and neck pain for a month. Laboratory findings were normal. In MRI, there was evidence of craniocervical junction extra-axial mass lesion arising from the posterior aspect of the dense process ligamentous complex extending from the foramen magnum to the posterior fossa with engulfment of the right vertebral artery. Regarding the compressive effect of the tumor, a right trans-condylar suboccipital surgical approach was used to resection the mass

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Coutinho, Diego F., Chelsey Burke, Prabhjot Mundi, et al. "Abstract 1810: Targeting of the nuclear export protein XPO1 represents a non-genetically encoded vulnerability in malignant rhabdoid and Wilms tumors." Cancer Research 82, no. 12_Supplement (2022): 1810. http://dx.doi.org/10.1158/1538-7445.am2022-1810.

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Abstract Introduction: Malignant rhabdoid (MRT) and Wilms tumor (WT) comprise more than 5% of all pediatric cancers. Despite intensive multimodality therapy, outcomes remain dismal for a subset of patients with aggressive or high-risk molecular features. Characteristic of most pediatric cancers, MRT and WT demonstrate relatively low frequencies of somatic mutations compared to adult tumors and generally lack therapeutically targetable genetic alterations. Hence, we applied a systems biology approach to identify and evaluate non-genetically encoded vulnerabilities in MRT and WT. Methods: MetaVI

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Mironova, Elena, Sebastian Molinas, Vanessa Del Pozo, et al. "Synergistic Antitumor Activity of Talazoparib and Temozolomide in Malignant Rhabdoid Tumors." Cancers 16, no. 11 (2024): 2041. http://dx.doi.org/10.3390/cancers16112041.

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Malignant rhabdoid tumors (MRTs) are among the most aggressive and treatment-resistant malignancies affecting infants, originating in the kidney, brain, liver, and soft tissues. The 5-year event-free survival rate for these cancers is a mere 20%. In nearly all cases of MRT, the SMARCB1 gene (occasionally SMARCA4)—a pivotal component of the SWI/SNF chromatin remodeling complex—is homozygously deleted, although the precise etiology of these tumors remains unknown. While young patients with localized MRT generally show improved outcomes, especially those who are older and have early-stage disease

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HAN, Zhi-Yan, Mamy Andrianteranagna, Stéphanie Fitte-Duval, et al. "Abstract A006 Targeting boundary cap cells leads to mouse Smarcb1-deficient peripheral nerve tumors recapitulating human peripheral rhabdoid tumors." Cancer Research 84, no. 17_Supplement (2024): A006. http://dx.doi.org/10.1158/1538-7445.pediatric24-a006.

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Abstract Malignant rhabdoid tumors (MRT) are rare aggressive tumors of infancy characterized by the biallelic inactivation of SMARCB1. Their lineage of origin remains uncertain, but increasing evidence suggest a neural-crest origin. By analyzing the transcriptome of MRT occurring in peripheral and cranial nerves, we observe that their expression profiling was not distinct from any other tumor localization. We therefore investigated whether the development of Smarcb1-deficient tumors emerging from embryonic precursors of peripheral nerves in mice could recapitulate human MRT. we generated condi

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Jackson, Nicole, Marleni Torres, Eva Glenn Lecea, Candelaria O’Farrell, Ziad Khatib, and Ossama Maher. "ATRT-03. Adapted Treatment Protocol: Synchronous Atypical Teratoid/Rhabdoid CNS Tumor and Extra CNS Disease." Neuro-Oncology 24, Supplement_1 (2022): i2. http://dx.doi.org/10.1093/neuonc/noac079.002.

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Abstract Atypical teratoid/rhabdoid tumors (AT/RTs) of the central nervous system (CNS) are rare, aggressive, early childhood tumors with unfavorable prognosis. There have been 31 cases reported of children with AT/RT of the CNS and extra CNS primary tumors. In addition to its aggressive tendencies, malignant rhabdoid tumors (MRTs) of the kidney have also shown a common genetic abnormality-inactivating mutation of SMARC B1/INI-gene. We report a 22-month-old male who presented at 15 months of age with metastatic AT/RT of the posterior fossa and synchronous malignant rhabdoid tumor of the left k

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Ngo, Carine, and Sophie Postel-Vinay. "Immunotherapy for SMARCB1-Deficient Sarcomas: Current Evidence and Future Developments." Biomedicines 10, no. 3 (2022): 650. http://dx.doi.org/10.3390/biomedicines10030650.

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Mutations in subunits of the SWItch Sucrose Non-Fermentable (SWI/SNF) complex occur in 20% of all human tumors. Among these, the core subunit SMARCB1 is the most frequently mutated, and SMARCB1 loss represents a founder driver event in several malignancies, such as malignant rhabdoid tumors (MRT), epithelioid sarcoma, poorly differentiated chordoma, and renal medullary carcinoma (RMC). Intriguingly, SMARCB1-deficient pediatric MRT and RMC have recently been reported to be immunogenic, despite their very simple genome and low tumor mutational burden. Responses to immune checkpoint inhibitors ha

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Nemes, Karolina, Susanne Bens, Pascal D. Johann, et al. "NFB-13. Rhabdoid Tumor Predisposition Syndrome (RTPS) – Finding Evidence by systematic Analyses." Neuro-Oncology 24, Supplement_1 (2022): i130—i131. http://dx.doi.org/10.1093/neuonc/noac079.475.

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Abstract BACKGROUND: Individuals with rhabdoid tumor predisposition syndrome (RTPS1 – SMARCB1, RTPS2 – SMARCA4) have a propensity to develop malignant rhabdoid tumors (MRT). Affected patients typically present &lt; age 12 months with synchronous tumors (SYN) exhibiting an unusually aggressive clinical behavior. Due to the rarity of RTPS, standards for management are evolving. METHODS: Clinical, genetic, and treatment data of 90 patients with RTPS from 16 countries were analyzed (2004 – 2020). Therapy followed the EU-RHAB recommendations. Tumors and matching blood samples were investigated

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Graf, Monika, Marta Interlandi, Natalia Moreno, et al. "ATRT-13. DIFFERENT CELLS OF ORIGIN PAVE THE WAY FOR MOLECULAR HETEROGENEITY IN RHABDOID TUMORS." Neuro-Oncology 22, Supplement_3 (2020): iii278. http://dx.doi.org/10.1093/neuonc/noaa222.012.

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Abstract Rhabdoid tumors (RT) are rare but highly aggressive pediatric neoplasms. These tumors carry homozygous loss-of-function alterations of SMARCB1 in almost all cases with an otherwise low mutational load. RT arise at different intracranial (ATRT) as well as extracranial (MRT) anatomical sites. Three main molecular subgroups (ATRT-SHH, ATRT-TYR, ATRT-MYC) have been characterized for ATRT which are epigenetically and clinically diverse, while MRT show remarkable similarities with ATRT-MYC distinct from ATRT-SHH and ATRT-TYR. Even though there are hypotheses about various cells of origin am

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Hingorani, Pooja, Wendong Zhang, Zhongting Zhang, et al. "Trastuzumab Deruxtecan, Antibody–Drug Conjugate Targeting HER2, Is Effective in Pediatric Malignancies: A Report by the Pediatric Preclinical Testing Consortium." Molecular Cancer Therapeutics 21, no. 8 (2022): 1318–25. http://dx.doi.org/10.1158/1535-7163.mct-21-0758.

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Abstract HER2 is expressed in many pediatric solid tumors and is a target for innovative immune therapies including CAR-T cells and antibody–drug conjugates (ADC). We evaluated the preclinical efficacy of trastuzumab deruxtecan (T-DXd, DS-8201a), a humanized monoclonal HER2-targeting antibody conjugated to a topoisomerase 1 inhibitor, DXd, in patient- and cell line–derived xenograft (PDX/CDX) models. HER2 mRNA expression was determined using RNA-seq and protein expression via IHC across multiple pediatric tumor PDX models. Osteosarcoma (OS), malignant rhabdoid tumor (MRT), and Wilms tumor (WT)

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Mironova, Elena, Sebastian Molinas, Vanessa Del Pozo, et al. "Abstract 7039: Synergistic antitumor activity of the combined PARP1 inhibition and alkylating DNA damage in malignant rhabdoid tumors." Cancer Research 85, no. 8_Supplement_1 (2025): 7039. https://doi.org/10.1158/1538-7445.am2025-7039.

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Abstract Background: Malignant rhabdoid tumors (MRTs) are among the most aggressive and treatment-resistant malignancies affecting infants, originating in the kidney, brain, liver, and soft tissues. The 5-year event-free survival rate for these cancers is a mere 20%. In nearly all cases of MRT, the SMARCB1 gene (occasionally SMARCA4) - a pivotal component of the SWI/SNF chromatin remodeling complex - is homozygously deleted, although the precise etiology of these tumors remains unknown. While young patients with localized MRT generally show improved outcomes, especially those who are older and

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ÖZKAN, Ayşe, İbrahim BAYRAM, Kamuran TUTUŞ, Gülay SEZGİN, Seyda ERDOGAN, and Serhan KÜPELİ. "Effect of risk group on survival in non-Wilms' renal tumors in children." Cukurova Medical Journal 47, no. 4 (2022): 1578–83. http://dx.doi.org/10.17826/cumj.1166854.

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Purpose: The aim of this study was to evaluate tne effect of the risk group on the clinical features of the disease, treatment strategies and especially survival in children with Non-Wilms’ renal tumors (NWRTs).  Materials and Methods: Patients diagnosed with NWRTs followed up and treated between January 2012 and January 2022 were included in the study (n=29; 16 boys and 13 girls). They were categorized into high- and low-risk groups based on their histological type. Patient records were reviewed retrospectively. Clinical characteristics, treatments, and outcomes of these patients were a

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Bendel, Anne, Helen Toledano, Ian Cohen, Susan Chi, and Jaclyn Biegel. "ATRT-04. LATE DEVELOPMENT OF METACHRONOUS ATYPICAL TERATOID/RHABDOID TUMORS (AT/RTS) OR MALIGNANT RHABDOID TUMOR (MRT) IN THREE PATIENTS WITH GERMLINE SMARCB1 MUTATIONS." Neuro-Oncology 20, suppl_2 (2018): i27—i28. http://dx.doi.org/10.1093/neuonc/noy059.003.

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Hecht, Sarah L., Jonathan P. Walker, Amy L. Treece, and Nicholas G. Cost. "Isolated Pure Malignant Rhabdoid Tumor (MRT) of the Bladder: Case Report and Lessons Learned." Urology 137 (March 2020): 164–67. http://dx.doi.org/10.1016/j.urology.2019.10.023.

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Kia, Sima Kheradmand, Marcin M. Gorski, Stavros Giannakopoulos, and C. Peter Verrijzer. "SWI/SNF Mediates Polycomb Eviction and Epigenetic Reprogramming of the INK4b-ARF-INK4a Locus." Molecular and Cellular Biology 28, no. 10 (2008): 3457–64. http://dx.doi.org/10.1128/mcb.02019-07.

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ABSTRACT Stable silencing of the INK4b-ARF-INK4a tumor suppressor locus occurs in a variety of human cancers, including malignant rhabdoid tumors (MRTs). MRTs are extremely aggressive cancers caused by the loss of the hSNF5 subunit of the SWI/SNF chromatin-remodeling complex. We found previously that, in MRT cells, hSNF5 is required for p16 INK4a induction, mitotic checkpoint activation, and cellular senescence. Here, we investigated how the balance between Polycomb group (PcG) silencing and SWI/SNF activation affects epigenetic control of the INK4b-ARF-INK4a locus in MRT cells. hSNF5 reexpres

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Burke, Chelsey, Diego Ferreira Ferreira Coutinho, Glorymar Ibanez, et al. "Evaluating antitumor activity and response determinants to trastuzumab deruxtecan in pediatric solid tumors." Journal of Clinical Oncology 42, no. 16_suppl (2024): 10049. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.10049.

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10049 Background: Trastuzumab deruxtecan (T-DXd) is an anti-HER2 antibody-drug conjugate (ADC) linked to a topoisomerase inhibitor FDA-approved for several indications, including the treatment of HER2+ breast and gastric cancer. Although HER2 amplification is uncommon in pediatric cancers, recent demonstration of T-DXd efficacy in HER2-low breast cancer patients prompted us to examine the potential clinical relevance of T-DXd in pediatrics by evaluating HER2 expression and activity of T-DXd in preclinical pediatric solid tumor models. Methods: Cell viability was assessed in a panel of histolog

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Gounder, Mrinal M., Silvia Stacchiotti, Patrick Schöffski, et al. "Phase 2 multicenter study of the EZH2 inhibitor tazemetostat in adults with INI1 negative epithelioid sarcoma (NCT02601950)." Journal of Clinical Oncology 35, no. 15_suppl (2017): 11058. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.11058.

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11058 Background: Epithelioid sarcoma (ES) is a rare soft tissue sarcoma (STS) typically seen in young adults accounting for < 1% of all STS. While local disease may be indolent, ES can rapidly spread and patients (pts) with distant metastasis are often resistant to systemic treatment with 1 year survival of < 50%. The defining molecular feature of ES is the absence of tumor expression of INI1, a SWI/SNF subunit member involved in chromatin remodeling. Tazemetostat, a potent and selective EZH2 inhibitor, has demonstrated tumor regressions in INI1 negative preclinical malignant rhabdoid t

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Roberts, Charles W. M. "Abstract IA006: Synthetic lethalities for SWI/SNF mutant cancers." Molecular Cancer Therapeutics 23, no. 6_Supplement (2024): IA006. http://dx.doi.org/10.1158/1538-8514.synthleth24-ia006.

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Abstract Genes that encode subunits of SWI/SNF (BAF) chromatin remodeling complexes are mutated in over 20% of cancers. These include recurrent mutations of ARID1A (BAF250a) in ovarian, endometrioid, bladder, stomach, colorectal and pancreatic cancers and neuroblastoma; of the SMARCA4 (BRG1) subunit in medulloblastomas and non-small cell lung cancers; of the PBRM1 subunit in renal carcinomas; of the ARID2 subunit in hepatocellular, lung, and pancreas carcinomas as well as melanomas; of the BRD7 subunit in breast cancers. The SWI/SNF complex includes both core and lineage-specific subunits and

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Takasugi, Nao, Takao Deguchi, and Motohiro Kato. "HER2 expression-independent antitumor effect of trastuzumab deruxtecan (T-DXd) on pediatric solid tumors." Journal of Clinical Oncology 42, no. 16_suppl (2024): e15016-e15016. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.e15016.

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e15016 Background: Treatment of pediatric solid tumors shows limited improvement even with intensification of conventional chemotherapy, suggesting novel approaches such as targeted therapies are needed. Trastuzumab Deruxtecan (T-DXd), a HER2-targeting antibody–drug conjugate, exhibits significant anti-cancer activity in breast cancers with a broad range of HER2 expression. T-DXd might be a promising agent for refractory or relapsed pediatric solid tumors, but its efficacy in pediatric tumors needs to be studied. Methods: Anti-cancer efficacy of T-DXd and its payload DXd were assessed in vitro

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Tang, Haiying, Edward Favours, Samson Ghilu, et al. "Abstract 7040: The B7-H3 targeting antibody-drug conjugate (ADC) vobramitamab duocarmazine (vobra duo) is potently effective against a broad panel of pediatric solid tumor xenograft models: A study from the Pediatric Preclinical In Vivo Testing (PIVOT) Consortium." Cancer Research 85, no. 8_Supplement_1 (2025): 7040. https://doi.org/10.1158/1538-7445.am2025-7040.

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Abstract Introduction: Vobra duo, a duocarmycin-based humanized ADC (drug-to-antibody ratio is ∼2.7) targeting B7-H3, shows robust in vivo activity against a range of adult cancer models, and a favorable pharmacokinetic and safety profile in cynomolgus monkeys. Initial results from the single agent phase 1 clinical trial of vobra duo (NCT03729596) showed manageable side effects and promising objective response rates in metastatic castration-resistant prostate cancer. B7-H3 is highly expressed in pediatric solid tumors, and it is emerging as a key target for pediatric oncology. Here we report t

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Uhlig, Johannes, Annemarie Uhlig, Hari Anant Deshpande, Michael E. Hurwitz, Peter Humphrey, and Kevin Kim. "Renal sarcomas: Epidemiology, treatment and outcomes." Journal of Clinical Oncology 39, no. 6_suppl (2021): 362. http://dx.doi.org/10.1200/jco.2021.39.6_suppl.362.

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362 Background: Renal sarcomas are a rare malignancy in adults and have been inadequately evaluated on a US national level regarding epidemiology, treatment, and outcomes. Methods: The 2004-2016 NCDB and SEER databases were queried for adult patients diagnosed with sarcomas of renal origin. Age-adjusted incidence rates were derived from the SEER database. Overall survival (OS) was assessed using multivariable Cox proportional hazards models adjusting for demographics, tumor and treatment variables. Results: 1,279 renal sarcomas comprising 39 subtypes were reported from 2004-2016, contributing

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Tonk, VS, DW Fort, CF Timmons, GE Tomlinson, and NR Schneider. "A 45,XY,−22 primitive neuroectodermal tumor (PNET) of the brain and a 46,XY malignant rhabdoid tumor (MRT) of the kidney in a 6-month-old child." Cancer Genetics and Cytogenetics 66, no. 2 (1993): 161. http://dx.doi.org/10.1016/0165-4608(93)90328-j.

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Yi, Joanna S., Jeffrey Czaplinski, Ketki Bhushan, et al. "TAZNI: A phase I/II combination trial of tazemetostat with nivolumab and ipilimumab for children with INI1-negative or SMARCA4-deficient tumors." Journal of Clinical Oncology 42, no. 16_suppl (2024): TPS10077. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.tps10077.

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TPS10077 Background: The prognosis for children with INI1-negative cancers is dismal, with historic 5-year overall survival <30%. These cancers (including malignant rhabdoid tumors [MRT], atypical teratoid rhabdoid tumors [ATRT], epithelioid sarcomas [ES], and poorly differentiated chordomas) have few novel treatment options. These tumors exhibit a heightened dependence on the Polycomb Repressive Complex, whereby EZH2 is the catalytic subunit. Two recent pediatric phase 1/2 trials with EZH2 inhibitor tazemetostat (EZH-102, NCT02601937 and APEC1621C, NCT03213665) demonstrated 17% overall obj

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Lock, Richard B., Raushan Kurmasheva, Kathryn Evans, et al. "Abstract 7041: The CLK/DYRK inhibitor SM09419 shows potent efficacy across a broad panel of pediatric preclinical xenograft models - A report from the Pediatric Preclinical In Vivo Testing Consortium (PIVOT)." Cancer Research 85, no. 8_Supplement_1 (2025): 7041. https://doi.org/10.1158/1538-7445.am2025-7041.

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Abstract Introduction: SM09419 is an experimental small-molecule pan-inhibitor targeting CLK and DYRK kinases, which play a key role in RNA splicing and other oncogenic processes. SM09419 exhibited promising activity in preclinical models of TP53- and FLT3-mutated acute myeloid leukemia, and its analog cirtuvivint (SM08502) exhibited broad preclinical activity and evidence of therapeutic benefit in solid tumors. Cirtuvivint is in clinical trials in adults with AML (NCT06484062) and sarcomas (SELNET-7-2/EuCT#: 2024-511987-10-00). To evaluate the role of CLK and DYRK kinase inhibition in pediatr

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Msaouel, Pavlos, Rebecca Slack-Tidwell, and Nizar M. Tannir. "Phase II trial of nivolumab (nivo) plus ipilimumab (ipi) in patients with SMARCB1-deficient kidney malignancies." Journal of Clinical Oncology 37, no. 7_suppl (2019): TPS677. http://dx.doi.org/10.1200/jco.2019.37.7_suppl.tps677.

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TPS677 Background: The potent tumor suppressor SMARCB1 (also known as INI-1, hSNF5, or BAF47) is inactivated in all cases of renal medullary carcinoma (RMC) and renal cell carcinoma unclassified with medullary phenotype (RCCU-MP), as well as most malignant rhabdoid tumors (MRT) of the kidney. Although rare, these kidney malignancies are highly lethal and often occur in young patients. The role of immune checkpoint inhibitor therapy remains to be prospectively defined in tumors harboring SMARCB1 defects. Although a case report noted efficacy of single-agent Nivo in a patient with RMC (Beckerman

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Msaouel, Pavlos, Rebecca Slack-Tidwell, Giannicola Genovese, Najat C. Daw, Arlene O. Siefker-Radtke, and Nizar M. Tannir. "Phase II trial of ixazomib combined with gemcitabine and doxorubicin in patients with SMARCB1-deficient kidney malignancies." Journal of Clinical Oncology 37, no. 7_suppl (2019): TPS678. http://dx.doi.org/10.1200/jco.2019.37.7_suppl.tps678.

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TPS678 Background: SMARCB1 (also known as INI-1, hSNF5, or BAF47) is a potent tumor suppressor inactivated in all cases of renal medullary carcinoma (RMC) and renal cell carcinoma unclassified with medullary phenotype (RCCU-MP), as well as the majority of malignant rhabdoid tumors (MRT). These highly aggressive malignancies often occur in young patients (pts) and are associated with poor prognosis. There are currently no approved therapies targeting SMARCB1 defects. We previously showed that SMARCB1 loss induces a synthetically lethal vulnerability to perturbations of the cellular proteostasis

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Copeland, Robert A. "Protein Methyltransferase Inhibitors as Personalized Cancer Therapeutics." Blood 122, no. 21 (2013): SCI—21—SCI—21. http://dx.doi.org/10.1182/blood.v122.21.sci-21.sci-21.

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Abstract The protein methyltransferases (PMTs) constitute a class of enzymes that catalyze the methylation of lysine or arginine residues on histones and other proteins. A number of PMTs have been shown to be genetically altered in cancers through, for example: gene amplification, chromosomal translocations, point mutations, and synthetic lethal relationships [Copeland et al. (2013) Oncogene 32: 939-946]. The enzymes DOT1L and EZH2 provide two representative examples of altered PMTs that act as genetic drivers of specific human cancers. The enzymatic activity of DOT1L is associated with a chro

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Jackson, Katrina L., Roman V. Agafonov, Mark W. Carlson, et al. "Abstract ND09: The discovery and characterization of CFT8634: A potent and selective degrader of BRD9 for the treatment of SMARCB1-perturbed cancers." Cancer Research 82, no. 12_Supplement (2022): ND09. http://dx.doi.org/10.1158/1538-7445.am2022-nd09.

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Abstract Introduction: The chromatin factor BRD9 is a genetic dependency in some cancers, often referred to as SMARCB1-perturbed cancers. Two types of genetic alterations result in SMARCB1 perturbation: SS18-SSX gene fusion and SMARCB1 loss-of-function mutations. In synovial sarcoma, a rare and aggressive soft tissue malignancy comprising approximately 10% of all soft tissue sarcomas, the presence of the SS18-SSX fusion gene drives the disruption of SMARCB1 function and leads to a synthetic lethal dependence on BRD9. In SMARCB1-null solid tumors, for example malignant rhabdoid tumors (MRT), po

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Abbott, Jared J., Robin H. Amirkhan, and Mai P. Hoang. "Malignant Melanoma With a Rhabdoid Phenotype: Histologic, Immunohistochemical, and Ultrastructural Study of a Case and Review of the Literature." Archives of Pathology & Laboratory Medicine 128, no. 6 (2004): 686–88. http://dx.doi.org/10.5858/2004-128-686-mmwarp.

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Abstract Malignant melanoma is known to display tremendous histologic diversity. One rare variant is the rhabdoid phenotype, so called because of the appearance of cells resembling rhabdomyoblasts seen in malignant rhabdoid tumors of the kidney. We present the histologic, immunohistochemical, and ultrastructural features of a malignant melanoma composed entirely of rhabdoid cells. A 62-year-old man presented with a 6.5-cm lung mass. Although presumed to be a metastatic lesion, extensive workup failed to reveal a primary tumor site. Histologic sections showed a mass composed entirely of polygon

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Muller, Matthew, Sherri Lynn Hubbard, John Provias, Mark Greenberg, Laurence E. Becker, and James T. Rutka. "Malignant Rhabdoid Tumour of the Pineal Region." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 21, no. 3 (1994): 273–77. http://dx.doi.org/10.1017/s0317167100041287.

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Abstract:A 9-month-old male presented to hospital with signs and symptoms of raised intracranial pressure. A CT scan showed obstructive hydrocephalus from a large pineal region mass lesion into which an intratumoral hemorrhage had occurred. A posterior fossa craniectomy and subtotal excision of the mass lesion were performed. By histopathology, the lesion was a malignant rhabdoid tumour (MRT). Despite surgery and chemotherapy, the tumour grew inexorably, and the patient died four months after the initial diagnosis. MRT is a rare and highly invasive neoplasm which infrequently arises from the c

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Kudziev, A. V., A. S. Nazarov, Yu V. Belyakov, et al. "Surgical treatment of malignant triton tumor of the spinal root (a rare clinical observation)." Russian Neurosurgical Journal named after Professor A. L. Polenov 15, no. 2 (2023): 140–44. https://doi.org/10.56618/2071-2693_2023_15_2_140.

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Malignant newt tumor (MNT) is a highly aggressive malignant neoplasm classified as a variant of malignant peripheral nerve sheath tumor (MPNT) with rhabdomyoblast differentiation. MDRF with divergent (heterologous) differentiation with the presence of a rhabdoid component is extremely rare, accounting for 5 % of all MRRF, which accounts for approximately 2 % of all soft tissue sarcomas. A subgroup of tumors in which malignant Schwann cells coexist with malignant rhabdomyoblasts is called malignant newt tumor (MNT) [10]. In most published clinical observations, newt tumor malignancy occurs in t

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Kaneko, Takahide, Ayumi Korekawa, Eijiro Akasaka, Daiki Rokunohe, Hajime Nakano, and Daisuke Sawamura. "Primary Amelanotic Rhabdoid Melanoma: A Case Report with Review of the Literature." Case Reports in Dermatology 7, no. 3 (2015): 292–97. http://dx.doi.org/10.1159/000441347.

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Primary rhabdoid melanoma (PRM) is a rare variant of melanoma. Herein, we describe a case of primary amelanotic rhabdoid melanoma and review the clinicopathological features of previously reported cases of PRMs. A 63-year-old Japanese man presented with a nonpigmented red granular tumor without peripheral pigmented macules on the left heel measuring 21 × 18 mm in size. Light microscopic examination revealed a tumor mass composed entirely of polygonal neoplastic cells resembling pulmonary alveoli. Tumor cells were also discohesive with bizarre nuclei, prominent nucleoli and large hyaline cytopl

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