Relevant bibliographies by topics / Advance systemic mastocytosis

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters
  4. Conference papers

Academic literature on the topic 'Advance systemic mastocytosis'

Author: Grafiati
Published: 24 May 2025
Last updated: 31 July 2025

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Journal articles on the topic "Advance systemic mastocytosis"

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Arock, Michel. "A new therapeutic advance for symptomatic systemic mastocytosis?" Lancet 389, no. 10069 (2017): 576–78. http://dx.doi.org/10.1016/s0140-6736(16)31655-5.

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Lee, Philina, Tracy I. George, Hongliang Shi, et al. "Systemic Mastocytosis Patient Experience from Mast Cell Connect, the First Patient-Reported Registry for Mastocytosis." Blood 128, no. 22 (2016): 4783. http://dx.doi.org/10.1182/blood.v128.22.4783.4783.

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Abstract Background: Systemic mastocytosis (SM) is a rare mast cell disorder associated with a range of debilitating symptoms and a shortage of effective treatment options. Little is known about the impact of the disease from the patients' perspective. Systematically characterizing the natural history of SM and its impact on patients will facilitate the development of new therapies. Registries that engage patients have proven valuable in other rare diseases by expanding knowledge of current treatment approaches, evaluating disease burden and accelerating clinical trials. Methods: Mast Cell Con
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Deininger, Michael W., Daniel J. DeAngelo, Deepti H. Radia, et al. "Effective Control of Advance Systemic Mastocytosis with Avapritinib: Mutational Analysis from the Explorer Clinical Study." Blood 138, Supplement 1 (2021): 318. http://dx.doi.org/10.1182/blood-2021-150872.

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Abstract Introduction: Systemic mastocytosis (SM) is a rare, hematologic neoplasm driven by KIT D816V mutations in ~95% of patients. Outcomes remain poor for patients with advanced SM (AdvSM), which comprises aggressive SM (ASM), SM with an associated hematologic neoplasm (SM-AHN), and mast cell leukemia (MCL). Molecular subtyping reveals a heterogeneous genetic landscape, particularly in patients with an AHN component. The KIT D816V mutation is invariably found in and considered a primary driver of the neoplastic mast cell component, while its role in the AHN component is less clear. Clinical
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Pardanani, Animesh, Rhett P. Ketterling, Stephanie R. Brockman, et al. "CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy." Blood 102, no. 9 (2003): 3093–96. http://dx.doi.org/10.1182/blood-2003-05-1627.

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AbstractImatinib mesylate is effective in the treatment of hematologic malignancies that are characterized by either abl- or PDGFRβ- activating mutations. The drug is also active in a subset of patients with eosinophilic disorders and systemic mast cell disease (SMCD). Recently, a novel tyrosine kinase that is generated from fusion of the Fip1-like 1 (FIP1L1) and PDGFRα (PDGFRA) genes has been identified as a therapeutic target for imatinib mesylate in hypereosinophilic syndrome (HES). We used fluorescence in situ hybridization (FISH) to detect deletion of the CHIC2 locus at 4q12 as a surrogat
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Shikhbabaeva, D. I., O. Yu Vinogradova, A. L. Neverova, et al. "Targeted therapy for advanced forms of systemic mastocytosis in real clinical practice." Oncohematology 18, no. 4 (2023): 78–89. http://dx.doi.org/10.17650/1818-8346-2023-18-4-78-89.

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Background. Mastocytosis is a heterogeneous group of diseases that are characterized by excessive proliferation and accumulation of clonal (neoplastic) mast cells in one or more organs. Advanced variants of systemic mastocytosis (aggressive systemic mastocytosis, systemic mastocytosis associated with hematological neoplasm, and mast cell leukemia) are characterized by infiltration of organs by mast cells, which leads to organs dysfunction. Such patients require a more active approach and the use of cytoreductive therapy. Available therapeutic options include imatinib, interferon-alpha, cladrib
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Veitch, Scott, and Deepti H. Radia. "Recent Advances in the Therapeutic Management of Advanced Systemic Mastocytosis." Diagnostics 14, no. 1 (2023): 80. http://dx.doi.org/10.3390/diagnostics14010080.

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Advanced systemic mastocytosis (AdvSM) is a rare haematological neoplasm characterised by the accumulation of neoplastic mast cells (MCs) in various organs, resulting in organ dysfunction and reduced life expectancy. The subtypes include aggressive SM (ASM), SM with an associated haematological neoplasm (SM-AHN) and mast cell leukaemia (MCL). The gain of function KIT D816V mutation is present in most cases. The availability of tyrosine kinase inhibitors (TKIs) has revolutionised the treatment landscape for patients with this life-limiting disease. Patients are now able to achieve molecular rem
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Chandesris, Marie-Olivia, Gandhi Damaj, Danielle Canioni, et al. "Midostaurin in Advanced Systemic Mastocytosis." New England Journal of Medicine 374, no. 26 (2016): 2605–6. http://dx.doi.org/10.1056/nejmc1515403.

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8

Shomali, William, and Jason Gotlib. "The new tool “KIT” in advanced systemic mastocytosis." Hematology 2018, no. 1 (2018): 127–36. http://dx.doi.org/10.1182/asheducation-2018.1.127.

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AbstractMastocytosis is a rare disease characterized by KIT-driven expansion and accumulation of neoplastic mast cells in various tissues. Although mediator symptoms related to mast cell activation can impose a symptom burden in cutaneous disease and across the spectrum of systemic mastocytosis subtypes, the presence of an associated hematologic neoplasm and/or organ damage denotes advanced disease and the potential for increased morbidity and mortality. In addition to the revised 2016 World Health Organization classification of mastocytosis, a new diagnostic and treatment toolkit, tethered to
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9

Lange, Magdalena, Karin Hartmann, Melody C. Carter, et al. "Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021." International Journal of Molecular Sciences 22, no. 5 (2021): 2586. http://dx.doi.org/10.3390/ijms22052586.

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Pediatric mastocytosis is a heterogeneous disease characterized by accumulation of mast cells in the skin and less frequently in other organs. Somatic or germline mutations in the KIT proto-oncogene are detected in most patients. Cutaneous mastocytosis is the most common form of the disease in children. In the majority of cases, skin lesions regress spontaneously around puberty. However, in few patients, mastocytosis is not a self-limiting disease, but persists into adulthood and can show signs of systemic involvement, especially when skin lesions are small-sized and monomorphic. Children with
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10

Schwaab, Juliana, Susanne Schnittger, Karl Sotlar, et al. "Comprehensive mutational profiling in advanced systemic mastocytosis." Blood 122, no. 14 (2013): 2460–66. http://dx.doi.org/10.1182/blood-2013-04-496448.

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Key Points Additional genetic aberrations apart from KIT D816V are found in advanced systemic mastocytosis. Additional genetic aberrations apart from KIT D816V are associated with a significant reduction of overall survival.
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Dissertations / Theses on the topic "Advance systemic mastocytosis"

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Kangboonruang, Kitsada. "Neoplastic mast cells from patients with mastocytosis express AXL : effects on proliferation, apoptosis, and resistance to tyrosine kinase inhibitors." Electronic Thesis or Diss., Université Paris Cité, 2024. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=6722&f=79753.

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La mastocytose est une maladie rare et hétérogène, caractérisée par l'accumulation de mastocytes (MC) néoplasiques dans un ou plusieurs organes. L'Organisation Mondiale de la Santé (OMS) a classé la mastocytose en plusieurs variantes, dont la mastocytose cutanée (CM), limitée à la peau, la mastocytose systémique (MS), qui affecte la moelle osseuse et divers organes, ainsi que le sarcome mastocytaire (MCS), une tumeur localisée rare et agressive. La MS est ensuite subdivisée en MS non avancée (comprenant la MS indolente (ISM) et la MS à évolution lente (SSM)) et en MS avancées (AdvSM). L'AdvSM
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Rondoni, Michela <1975&gt. "SETD2 loss of function as a new marker of advanced disease in systemic mastocytosis: biological and clinical implications." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2020. http://amsdottorato.unibo.it/9375/1/TESI_Rondoni%20Michela.pdf.

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This project stems from the results of a WES analysis of a rare case of KIT mutation-negative mast cell leukemia (MCL), that identified biallelic inactivating mutations of the SETD2 gene. SETD2 is a tumor suppressor whose loss of function is implicated in solid tumors and leukemias. We thus moved to investigate the prevalence, the underlying mechanisms, the pathogenetic role and the ‘druggability’ of SETD2 loss of function in SM, and its clinical relevance. Screening of a validation cohort of 57 patients with various forms of SM for H3K36 trimethylation levels as a surrogate marker for SETD2 l
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Book chapters on the topic "Advance systemic mastocytosis"

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Pullarkat, Sheeja T., Winnie Wu, and Vinod Pullarkat. "Systemic Mastocytosis: Advances in Diagnosis and Current Management." In Cancer Treatment and Research. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-78311-2_10.

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Robyn, Jamie, and Dean D. Metcalfe. "Systemic Mastocytosis." In Advances in Immunology. Elsevier, 2006. http://dx.doi.org/10.1016/s0065-2776(05)89005-4.

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Gotlib, Jason. "Systemic mastocytosis." In Oxford Specialist Handbook: Myeloproliferative Neoplasms. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198744214.003.0011.

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The study of systemic mastocytosis (SM) is undergoing dynamic change. Understanding of the biologic underpinnings of the disease, including its various World Health Organization-defined subtypes, is being catalysed by next generation sequencing in conjunction with sophisticated molecular biology tools which have allow refined analysis of mast cell immunophenotypes and intracellular signalling networks. In turn, this has provided translational opportunities for identifying new targets of therapy and biologic correlates of response, particularly in advanced forms of disease. Because SM is a rare
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Conference papers on the topic "Advance systemic mastocytosis"

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DeAngelo, Daniel J., Andreas Reiter, Deepti Radia, et al. "Abstract CT023: PATHFINDER: Interim analysis of avapritinib (ava) in patients (pts) with advanced systemic mastocytosis (AdvSM)." In Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.am2021-ct023.

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Singh, R., and A. Levison. "B52 Emergency anesthetic management of a patient with extensive fournier gangrene who had advanced systemic mastocytosis – rectus sheath catheter placement for laparotomy." In ESRA Abstracts, 39th Annual ESRA Congress, 22–25 June 2022. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/rapm-2022-esra.127.

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