Oncol Case Rep J | Volume 7, Issue 1 | Case Report | Open Access

Philadelphia Chromosome Positive Myelodysplastic Syndrome - A Rare Case Scenario

Paul S^1* and Bagchi B²

¹Department of Hematology, Chittaranjan National Cancer Institute, India
²Department of Medical Oncology (Hematology), Chittaranjan National Cancer Institute, India

^*Correspondance to: Subhasish Paul 

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Abstract

Introduction: Myelodysplastic Syndrome (MDS) is a group of acquired disorders characterized by ineffective and dysplastic hematopoiesis; We report a case of MDS with the Philadelphia translocation here which is rarely reported in patients with MDS and reviewed other similar cases.
Case Report: An elderly female was diagnosed with MDS-EB1 incidentally while undergoing PTCA. The AML and MDS panel from bone marrow revealed BCR-ABL1 gene fusion in 20% cells.
Discussion: The BCR-ABL fusion gene is a disease-defining clonal abnormality, usually seen in CML and in some cases of ALL, but MDS is rarely associated with BCR-ABL mutation. Patients with MDS seem to have a poorer prognosis with increased transformation to leukemia compared to patients without BCR-ABL mutation. Routine testing for the BCR-ABL translocation is not yet a part of the MDS work up due to its rarity.
Summary: MDS is rarely associated with BCR-ABL1 fusion. Patients have a seemingly poorer prognosis with increased risk of transformation to acute leukemia compared to patients without BCR-ABL1 mutation and are more resistant to conventional chemotherapy.

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Citation:

Paul S, Bagchi B. Philadelphia Chromosome Positive Myelodysplastic Syndrome - A Rare Case Scenario. Oncol Case Report J. 2024; 7(1): 1060..