Acquired Philadelphia Chromosome with Transformed Myelodysplastic Syndrome

Affordable Access

Download Read

Acquired Philadelphia Chromosome with Transformed Myelodysplastic Syndrome

Authors
Type
Published Article
Journal
Journal of Case Reports in Medicine
Publisher
Ashdin Publishing
Volume
2
Pages
1–2
Identifiers
DOI: 10.4303/jcrm/235693
Source
Ashdin
Keywords
License
Green

Abstract

Transformation to acute myeloid leukemia (AML) frequently occurs in patients with myelodysplastic syndrome (MDS), and genetic evolution probably plays a critical role in this transformation. However, late appearance of the Philadelphia (Ph) chromosome during the course of transformed MDS is extremely rare. We report a 77-year-old man with transformed MDS and an acquired Ph chromosome. He was initially diagnosed with refractory anemia with 45,XY,del(5)(q?),-7,-14,-17,+mar1,+mar2 [7/20] as the major clone. After 4 months, hematological studies showed progression of anemia with increased number of blast cells. Conventional chromosome analysis revealed 45,XY,del(5)(q?),-7, t(9;22)(q34;q11.2),-14,-17,+mar1,+mar2 [20/20], a subclone with an acquired Ph chromosome derived from a stem clone observed at MDS diagnosis. RT-PCR results were positive for major BCR-ABL transcript. Although a comparison of whole-genome sequences between original and transformed clones would be informative, the acquired Ph chromosome probably played a role as a " class-I mutation, " which increases cell proliferation in transformed MDS.

Report this publication

Statistics

Seen 155 times
Downloaded <100 times