JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease

Blood Cells, Molecules, and Diseases

Volumn 46, Issue 1, 2011, Pages 103-104

  Webb, Bryn D ^a   Weinreb, Neal J ^b   Botti, Anthony C ^c   Kirmse, Brian M ^a   Balwani, Manisha ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c SAINT BARNABAS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCOSIDASE; IMIGLUCERASE; JANUS KINASE 2; LESTAURTINIB;

ADULT; ALLOGENIC BONE MARROW TRANSPLANTATION; ANEMIA; ANKLE FRACTURE; ANOREXIA; BETA GLUCOSIDASE GENE; BLOOD SMEAR; BONE MARROW BIOPSY; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME DELETION 20Q12; CYTOPENIA; DRUG WITHDRAWAL; DYSPNEA; ENZYME REPLACEMENT; ERYTHROCYTE CONCENTRATE; FATIGUE; FEMALE; FEMUR NECK FRACTURE; GASTROINTESTINAL SYMPTOM; GAUCHER DISEASE; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPOTENSION; JEW; KARYOTYPE 46,XX; LETTER; LIMB PAIN; LYMPHADENECTOMY; MYELODYSPLASTIC SYNDROME; MYELOFIBROSIS; PRIORITY JOURNAL; SPLEEN INFARCTION; SPLENOMEGALY; SPONTANEOUS ABORTION; SYSTOLIC HEART MURMUR; THROMBOCYTE COUNT; THYROID MEDULLARY CARCINOMA; TRISOMY 8; WEIGHT REDUCTION;

FEMALE; GAUCHER DISEASE; HUMANS; JANUS KINASE 2; MIDDLE AGED; MUTATION; MYELOPROLIFERATIVE DISORDERS;

EID: 78650808636     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.09.007     Document Type: Letter

References (9)

1. Taddei T.H., Kacena K.A., Yang M., et al. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am. J. Hematol. 2009, 84:208-214.
2. de Fost M., Vom Dahl S., Weverling G.J., et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol. Dis. 2006, 36:53-58.
3. Elstein D., Abrahamov A., Hadas Halpern I., Zimran A. Gaucher's disease. Lancet 2001, 358:324-327.
4. Rosenbloom B.E., Weinreb N.J., Zimran A., et al. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood 2005, 105:4569-4572.
5. Hughes D.A. Enzyme, substrate, and myeloma in Gaucher disease. Am. J. Hematol. 2009, 84:199-201.
6. Tushinskaia M.M. Case of a combination of myelofibrosis with Gaucher's disease. Probl. Gematol. Pereliv. Krovi 1972, 17:40-41.
7. Dweck A., Blickstein D., Elstein D., Zimran A. Thrombocytosis associated with enzyme replacement therapy in Gaucher disease. Acta Haematol. 2002, 108:94-96.
8. Zimran A., Liphshitz I., Barchana M., Abrahamov A., Elstein D. Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cells Mol. Dis. 2005, 34:197-200.
9. Fabris F., Randi M.L. Essential thrombocythemia: past and present. Intern. Emerg. Med. 2009, 4:381-388.