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Rare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia – a case report

BACKGROUND: Fanconi’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 PRESENTATION: A 17 year old...

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Autores principales: Hussain, Shabneez, Adil, Salman Naseem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751483/
https://www.ncbi.nlm.nih.gov/pubmed/23937881
http://dx.doi.org/10.1186/1756-0500-6-316
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author Hussain, Shabneez
Adil, Salman Naseem
author_facet Hussain, Shabneez
Adil, Salman Naseem
author_sort Hussain, Shabneez
collection PubMed
description BACKGROUND: Fanconi’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 PRESENTATION: A 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. CONCLUSION: The 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.
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spelling pubmed-37514832013-08-24 Rare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia – a case report Hussain, Shabneez Adil, Salman Naseem BMC Res Notes Case Report BACKGROUND: Fanconi’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 PRESENTATION: A 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. CONCLUSION: The 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. BioMed Central 2013-08-12 /pmc/articles/PMC3751483/ /pubmed/23937881 http://dx.doi.org/10.1186/1756-0500-6-316 Text en Copyright © 2013 Hussain and Adil; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hussain, Shabneez
Adil, Salman Naseem
Rare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia – a case report
title Rare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia – a case report
title_full Rare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia – a case report
title_fullStr Rare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia – a case report
title_full_unstemmed Rare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia – a case report
title_short Rare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia – a case report
title_sort rare cytogenetic abnormalities in acute myeloid leukemia transformed from fanconi anemia – a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751483/
https://www.ncbi.nlm.nih.gov/pubmed/23937881
http://dx.doi.org/10.1186/1756-0500-6-316
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