Hairy Cell Leukemia with Systemic Lymphadenopathy: Detection of BRAF Mutations in Both Lymph Node and Peripheral Blood Specimens
نویسندگان
چکیده
منابع مشابه
BRAF mutations in hairy-cell leukemia.
BACKGROUND Hairy-cell leukemia (HCL) is a well-defined clinicopathological entity whose underlying genetic lesion is still obscure. METHODS We searched for HCL-associated mutations by performing massively parallel sequencing of the whole exome of leukemic and matched normal cells purified from the peripheral blood of an index patient with HCL. Findings were validated by Sanger sequencing in 4...
متن کاملBRAF Mutations in Hairy-Cell Leukemia
Enrico Tiacci, M.D., Vladimir Trifonov, Ph.D., Gianluca Schiavoni, Ph.D., Antony Holmes, Ph.D., Wolfgang Kern, M.D., Maria Paola Martelli, M.D., Alessandra Pucciarini, Ph.D., Barbara Bigerna, B.Sc., Roberta Pacini, B.Sc., Victoria A. Wells, B.Sc., Paolo Sportoletti, M.D., Valentina Pettirossi, Ph.D., Roberta Mannucci, Ph.D., Oliver Elliott, M.Sc., Arcangelo Liso, M.D., Achille Ambrosetti, M.D.,...
متن کاملDetection of BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders.
Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation. We screened 59 unenriched archived bone marrow aspirate and peripheral blood samples from 51 patients with hairy cell leukemia using high resolution melting analysis and confirmatory Sanger sequencing. The BRAF V600E mutation was detected in 38 samples (from 36 patients). The BRAF V600E mutation was detec...
متن کاملBRAF Mutation in Hairy Cell Leukemia
BRAF is a serine/threonine kinase with a regulatory role in the mitogen-activated protein kinase (MAPK) signaling pathway. A mutation in the RAF gene, especially in BRAF protein, leads to an increased stimulation of this cascade, causing uncontrolled cell division and development of malignancy. Several mutations have been observed in the gene coding for this protein in a variety of human malign...
متن کاملDiscrepant Results for BRAF V600E Mutation Among Different Specimens in a Case of Hairy Cell Leukemia
300 www.annlabmed.org http://dx.doi.org/10.3343/alm.2013.33.4.300 Dear Editor Hairy cell leukemia (HCL) is a rare lymphoproliferative disorder characterized by an indolent course, progressive pancytopenia, splenomegaly, and infiltration of abnormal B-cells with hairy projections and unique immunophenotypic features [1-3]. Very recently, the acquired V600E mutation of the BRAF gene has been desc...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Internal Medicine
سال: 2015
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.54.2944