NDLI: CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML)

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CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML)

Content Provider	Scilit
Author	Shiba, Norio Hasegawa, Daisuke Park, Myoung-Ja Murata, Chisato Sato-Otsubo, Aiko Ogawa, Chitose Manabe, Atsushi Arakawa, Hirokazu Ogawa, Seishi Hayashi, Yasuhide
Copyright Year	2012
Description	Familial platelet disorder with a propensity to develop acute myeloid leukemia (FPD/AML) is a rare autosomal dominant disease characterized by thrombocytopenia, abnormal platelet function, and a propensity to develop myelodysplastic syndrome (MDS) and AML. So far, > 20 affected families have been reported. Recently, a second RUNX1 alteration has been reported; however, no additional molecular abnormalities have been found so far. We identified an acquired CBL mutation and 11q-acquired uniparental disomy (11q-aUPD) in a patient with chronic myelomonocytic leukemia (CMML) secondary to FPD with RUNX1 mutation but not in the same patient during refractory cytopenia. This finding suggests that alterations of the CBL gene and RUNX1 gene may cooperate in the pathogenesis of CMML in patients with FPD/AML. The presence of CBL mutations and 11q-aUPD was an important “second hit” that could be an indicator of leukemic transformation of MDS or AML in patients with FPD/AML.
Related Links	http://bloodjournal.hematologylibrary.org/content/119/11/2612.full.pdf
Ending Page	2614
Page Count	3
Starting Page	2612
DOI	10.1182/blood-2011-02-333435
Journal	Blood
Issue Number	11
Volume Number	119
Language	English
Publisher	American Society of Hematology
Publisher Date	2012-03-15
Access Restriction	Open
Subject Keyword	Hematology Function Mutation Platelet Leukemia Propensity Abnormal Myeloid Cbl 11q Fpd/aml Journal: Blood (Vol- 117, Issue- 11)
Content Type	Text
Resource Type	Article

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