Hematology and Leukemia

Hematology and Leukemia

ISSN 2052-434X
Case report

Transformation of myelodysplastic syndrome with isolated 5q-syndrome to chronic myelogenous leukemia with a novel complex BCR/ABL1 translocation with rapid progression to blast crisis

Ann-Leslie Zaslav1*, Rajarsi Gupta1, Bruce T. Burks2, Michael Schuster3, Bita Jalilizeinali3, Erin Knorr1, Dan Tully1, Paula Fernicola1, Theresa Mercado1, Silvia Spitzer1, Marc Golightly1, Yupo Ma1 and Tahmeena Ahmed1

*Correspondence: Ann-Leslie Zaslav ann-leslie.zaslav@stonybrookmedicine.edu

1. Department of Pathology, Stony Brook University Medical Center, Stony Brook, NY, USA.

Author Affiliations

2. Department of Pathology, St. Catherine of Siena Medical Center, Smithtown, NY, USA.

3. Department of Medicine, Stony Brook University Medical Center, Stony Brook, NY, USA.


We report a case of a 72 year old female who was referred to our institution in August 2010 for Myelodysplastic syndrome (MDS) with a deletion of part of the long arm of chromosome 5 [i.e., del(5) (q12q33)]. In June 2014, she transformed to Chronic Myelogenous Leukemia (CML), where cytogenetic and FISH analysis of the bone marrow (BM) revealed the del(5q) in 1.5% of nuclei and a complex BCR/ABL1 translocation [i.e., 45,XX,t(9;15;22)(q34;p10;q11.2),-22]. Six weeks later, in July 2014, she transformed to an Acute Myelogenous Leukemia (AML) blast crisis. RT-PCR was positive for BCR/ABL1 transcript. The patient was treated with a tyrosine kinase inhibitor, Nilotinib, then had a haploidentical allogeneic bone marrow transplant from her son, and was in remission after treatment. However, throughout the course of nine subsequent cytogenetic analyses, the patient continued to undergo clonal chromosome evolution, even during remission. Transformation from MDS del(5q) to CML with rapid progression to blast crisis has rarely been reported. To our knowledge, transformation with this complex translocation has never been described. Here we describe these rare cytogenetic findings and discuss possible mechanisms involved in the persistent and evolving clonal cytogenetic abnormalities seen during the clinical course of the disease.

Keywords: Chromosomal abnormality, complex BCR-ABL1 translocation, 5q-syndrome, clonal chromosomal evolution

ISSN 2052-434X
Volume 4
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