Recurrent CDKN1B (p27) mutations in hairy cell leukemia
نویسندگان
چکیده
منابع مشابه
Recurrent CDKN1B (p27) mutations in hairy cell leukemia.
Hairy cell leukemia (HCL) is marked by near 100% mutational frequency of BRAFV600E mutations. Recurrent cooperating genetic events that may contribute to HCL pathogenesis or affect the clinical course of HCL are currently not described. Therefore, we performed whole exome sequencing to explore the mutational landscape of purine analog refractory HCL. In addition to the disease-defining BRAFV600...
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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...
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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.,...
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Hairy cell leukaemia variant is a very rare chronic lymphoproliferative disorder and is closely related to hairy cell leukemia. We hereby describe a case of hairy cell leukaemia variant for the first time in Saudi Arabia. An elderly Saudi man presented with pallor, massive splenomegaly, and moderate hepatomegaly. Hemoglobin was 7.7 g/dl, Platelets were 134 x109/l and white blood count was 140x1...
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ژورنال
عنوان ژورنال: Blood
سال: 2015
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2015-04-643361