Chronic Myeloid Leukemia with b3a3 (e14a3) Fusion: A Rare BCR/ABL Rearrangement Presenting with Thrombocytosis - Does MTHFR Polymorphism Matter

Case Reports in Oncology
Mohammad Muhsin Chisti, Daniel Steven Sanders

Abstract

Fusion of b2a2 is the most common BCR/ABL rearrangement in CML; however, absent a2 exons are very rare. We describe a case with Philadelphia-positive chronic myeloid leukemia (CML) with a very rare b3a3 (e14a3) BCR/ABL junction. To our knowledge, only 15 such cases of CML have previously been reported. These uncommon transcripts may be under-reported, since RT-PCR-based assays may fail to detect these fusions due to the location of the primers and probes used. We are reporting this case for the first time which presented with MTHFR mutation and significant thrombocytosis. There is very limited information on how this genotype expresses and responds to treatment, especially to tyrosine kinase inhibitors, as compared to classic CML. Also, the relationship between MTHFR mutation and CML is not clear, although studies have been done.

References

Feb 13, 2007·Seminars in Hematology·Elias Jabbour, Hagop Kantarjian
May 10, 2007·Leukemia & Lymphoma·Fátima TorresAlexandra R Fernandes
Oct 2, 2008·Blood·Alfonso Quintás-Cardama, Jorge Cortes
Jun 6, 2009·The Journal of Molecular Diagnostics : JMD·Natini JinawathKathleen M Murphy
Dec 17, 2014·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Claudia BănescuMinodora Dobreanu
Aug 22, 2017·Clinical Lymphoma, Myeloma & Leukemia·Katia Borgia Barbosa PagnanoCarmino Antonio de Souza

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