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Acquired del(9)(p22.3) in a primary plasma cell leukemia
Walid Al Achkar1, Abdulsamad Wafa, Abdulmunim Aljapawe
1Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, P,O, Box 6091, Damascus, Syria. ascientific@aec.org.sy.
Molecular Cytogenetics
|August 30, 2013
Summary
This case report details primary plasma cell leukemia (PCL) with a unique chromosomal abnormality, del(9)(p22.3). This finding offers new insights into the genetic landscape of this aggressive blood cancer.
Area of Science:
- Hematology
- Oncology
- Cytogenetics
Background:
- Plasma cell leukemia (PCL) is a rare and aggressive lymphoproliferative disorder.
- It accounts for 1-2% of plasma cell neoplasms, with primary PCL (pPCL) comprising 60% of cases.
- PCL has a poor prognosis and a median survival of approximately 7 months.
Observation:
- A case of primary PCL presented with hepatosplenomegaly, anemia, thrombocytopenia, fever, fatigue, and weight loss.
- Peripheral blood showed up to 60% plasma cells, and bone marrow had 80% plasma cells.
- Immunophenotype was consistent with PCL.
Findings:
- A deletion on chromosome 9, specifically del(9)(p22.3), was identified as the sole chromosomal abnormality.
- Array-proven multicolor banding (aMCB) was crucial for detailed characterization of the breakpoint regions.
- This is the first reported instance of pPCL associated with partial monosomy 9pter to 9p22.3.
Implications:
- This case expands the understanding of genetic alterations in primary PCL.
- The detailed characterization of del(9)(p22.3) may contribute to future diagnostic and prognostic strategies.
- Further research into this specific chromosomal abnormality could reveal novel therapeutic targets for PCL.
