Mast cell leukemia with novel BRAF variant and concomitant atypical KIT variant

Cancer Genetics - Tập 266 - Trang 33-36 - 2022
Tiane Chen1, Jozef Malysz1, Erik Washburn1, Natthapol Songdej2, Yong Zhang1, Michael Bayerl1
1Department of Pathology, Penn State Hershey Medical Center, Hershey, PA, United States of America
2Department of Hematology and Oncology, Penn State Hershey Medical Center, Hershey, PA, United States of America

Tài liệu tham khảo

Ricardo Sánchez, María Liz Paciello, Rosa M Ayala, Leyre Lorza, Teresa Cedena, M Pilar Martínez and Joaquín Martínez-López. Molecular Landscape and Clonal Evolution of Acute Mast Cell Leukemia: Case Study. 2022. Efrati, 1957, Mast cell leukemia? Malignant mastocytosis with leukemia-like manifestations, Blood, 12, 869, 10.1182/blood.V12.10.869.869 Gotlib, 2013, International working group-myeloproliferative neoplasms research and treatment (IWG-MRT) & european competence network on mastocytosis (ECNM) consensus response criteria in advanced systemic mastocytosis, Blood, 121, 2393, 10.1182/blood-2012-09-458521 Valent, 2017, Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts, Blood, 129, 1420, 10.1182/blood-2016-09-731893 Baghestanian, 1996, A case of malignant mastocytosis with circulating mast cell precursors: biologic and phenotypic characterization of the malignant clone, Leukemia, 10, 159 Georgin-Lavialle, 2013, Mast cell leukemia, Blood, 121, 1285, 10.1182/blood-2012-07-442400 Gotlib, 2016, Efficacy and safety of midostaurin in advanced systemic mastocytosis, N Engl J Med, 374, 2530, 10.1056/NEJMoa1513098 Valent, 2015, Chronic mast cell leukemia (MCL) with KIT S476I: a rare entity defined by leukemic expansion of mature mast cells and absence of organ damage, Ann Hematol, 94, 223, 10.1007/s00277-014-2207-9 Youk, 2016, A scientific treatment approach for acute mast cell leukemia: using a strategy based on next-generation sequencing data, Blood Res, 51, 17, 10.5045/br.2016.51.1.17 Bodemer, 2010, Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations, J Invest Dermatol, 130, 804, 10.1038/jid.2009.281 Kanakura, 1994, Activating mutations of the c-kit proto-oncogene in a human mast cell leukemia cell line, Leukemia, 8, S18 Blechman, 1993, Structure-function analyses of the kit receptor for the steel factor, Stem Cells, 11, 12, 10.1002/stem.5530110804 Hägglund, 2014, Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis, Med Oncol, 31, 123, 10.1007/s12032-014-0123-4 Yoon, 2006, The extracellular signal-regulated kinase: multiple substrates regulate diverse cellular functions, Growth Factors, 24, 21, 10.1080/02699050500284218 Cohn, 2017, BRAFV600 mutations in solid tumors, other than metastatic melanoma and papillary thyroid cancer, or multiple myeloma: a screening study, Onco Targets Ther, 10, 965, 10.2147/OTT.S120440 Wan, 2004, Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF, Cell, 116, 855, 10.1016/S0092-8674(04)00215-6 Heidorn, 2010, Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF, Cell, 140, 209, 10.1016/j.cell.2009.12.040 Yao, 2017, Tumours with class 3 BRAF mutants are sensitive to the inhibition of activated RAS, Nature, 548, 234, 10.1038/nature23291 Zheng, 2015, Clinical detection and categorization of uncommon and concomitant mutations involving BRAF, BMC Cancer, 24, 779, 10.1186/s12885-015-1811-y Miranda, 2012, KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors, Clin Cancer Res, 18, 1769, 10.1158/1078-0432.CCR-11-2230