Atypical BCR-ABL fusion transcript (e6a2) in pediatric acute lymphoblastic leukemia

Kumar, Dushyant; Panigrahi, Manoj Kumar; Dewangan, Deepti; Dutt, Sarjana; Rahman, Khaliqur; Mehta, Anurag

doi:10.5348/ijcri-2014-01-437-cr-10

IJCRI

2014

DOI: 10.5348/ijcri-2014-01-437-cr-10

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Atypical BCR-ABL fusion transcript (e6a2) in pediatric acute lymphoblastic leukemia

Dushyant Kumar¹,

Manoj Kumar Panigrahi²,

Deepti Dewangan³

et al.

Abstract: International Journal of Case Reports and Images (IJCRI) is an international, peer reviewed, monthly, open access, online journal, publishing high-quality, articles in all areas of basic medical sciences and clinical specialties.Aim of IJCRI is to encourage the publication of new information by providing a platform for reporting of unique, unusual and rare cases which enhance understanding of disease process, its diagnosis, management and clinico-pathologic correlations. IJCRI publishes Review Articles, Case S… Show more

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“…And associated with protein p210. Approximately 50 % of cases of Ph positive ALL are associated with the p190 [2].…”

mentioning

confidence: 99%

Novel e8a2 BCR/ABL Fusion Transcript in Case of a Myeloproliferative Neoplasm

Panigrahi

Kumar

Mehta

et al. 2016

Indian J Hematol Blood Transfus

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Main objective of this work was to confirm the occurrence of rare BCR-ABL fusion variant involving the a2 region of the ABL gene and e8 of BCR gene in a patient of Myeloproliferative neoplasm positive for t(9;22) translocation but negative for common major and minor breakpoint cluster regions. A patient with elevated white blood cell count was subjected to classical cytogenetics, FISH as well as RT-PCR testing using commercial kits as well as published primers and in house testing protocol. The translocation event in chromosome 9 and 22 could be successfully detected. BCR/ABL dual color, dual fusion probe generated a classical balanced translocation scenario within the nucleus. In RT-PCR we found an unexpectedly large amplification band around 1700 bp, which is consistent with e8a2 transcript. Nine metaphases showed 46,XY,t(9;22)(q34;q11.2)[9] by cytogenetic. A rare e8a2 break point in the BCR-ABL gene in myeloproliferative neoplasm disease detected in India. It also emphasizes the utility of cytogenetic and FISH for primary diagnosis of any neoplasm in blood. Our Patient detected rare BCR-ABL fusion variant e8a2 was on imatinib 400 mg since last 3 months. After 3 months fluorescent in situ analysis and reverse transcriptase pcr analysis showed negative results.

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“…And associated with protein p210. Approximately 50 % of cases of Ph positive ALL are associated with the p190 [2].…”

mentioning

confidence: 99%

Novel e8a2 BCR/ABL Fusion Transcript in Case of a Myeloproliferative Neoplasm

Panigrahi

Kumar

Mehta

et al. 2016

Indian J Hematol Blood Transfus

Self Cite

View full text Add to dashboard Cite

show abstract

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Atypical BCR-ABL fusion transcript (e6a2) in pediatric acute lymphoblastic leukemia

Cited by 1 publication

References 12 publications

Novel e8a2 BCR/ABL Fusion Transcript in Case of a Myeloproliferative Neoplasm

Novel e8a2 BCR/ABL Fusion Transcript in Case of a Myeloproliferative Neoplasm

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