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BMC Research Notes

, 6:316

First Online: 12 August 2013Received: 09 May 2013Accepted: 22 July 2013DOI: 10.1186-1756-0500-6-316

Cite this article as: Hussain, S. & Adil, S.N. BMC Res Notes 2013 6: 316. doi:10.1186-1756-0500-6-316

Abstract

BackgroundFanconi’s anemia FA is an inherited bone marrow failure syndrome that carries a higher risk of transformation to acute myeloid leukemia AML when compared with general population. AML is the initial presentation in approximately one third of patients.

Case presentationA 17 year old male presented to the emergency room with history of high grade fever since two weeks. Examination revealed pallor, short stature and thumb polydactyly. There was no visceromegaly or lymphadenopathy. Complete blood count showed haemoglobin 3.4 gm-dl, MCV 100 fl and MCH 36 pg, white blood cell count 55.9 × 10 E9-L and platelet count 8 × 10E9-L. Peripheral blood smear revealed 26% blast cells. Bone marrow was hypercellular exhibiting infiltration with 21% blast cells. Auer rods were seen in few blast cells. These findings were consistent with acute myelomonocytic leukemia. These blasts cells expressed CD33, CD13, HLA-DR, CD117, CD34 antigens and cytoplasmic myeloperoxidase on immunophenotyping. Bone marrow cytogenetics revealed 46, XY, t 8:21 q22; q22 11 - 46, XY, add 2 q37, t 8; 21 4 - 46, XY 5. Molecular studies showed positivity of FLT 3 D835 variant and negativity of NPM 1 and FLT3 ITD internal tandem domain mutation. Peripheral blood analysis for chromosomal breakage exhibited tri-radial and complex figures. He received induction chemotherapy with cytarabine and daunorubicin 3 + 7. Day 14 marrow revealed clearance of blast cells.

ConclusionThe recognition of specific cytogenetic abnormalities present in FA known to predispose to AML is crucial for early haematopoietic stem cell transplant HSCT before transformation to leukemia.

KeywordsFanconi anemia Acute myeloid leukemia Cytogenetic abnormalities AbbreviationsFAFanconi’s anemia

AMLAcute myeloid leukemia

FA AMLAcute myeloid leukemia transformed from Fanconi anemia

ANCAbsolute neutrophil count

ITDInternal tandem domain

FISHFluorescent in situ hybridization

HLAHuman leukocyte antigen

MDSMyelodysplastic syndrome

ALLAcute lymphoblastic leukemia

HSCTHaematopoietic stem cell transplant.

Electronic supplementary materialThe online version of this article doi:10.1186-1756-0500-6-316 contains supplementary material, which is available to authorized users.

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Autor: Shabneez Hussain - Salman Naseem Adil

Fuente: https://link.springer.com/







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