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Updated: Oct 29, 2025
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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A pediatric BAL case with double Ph chromosomes and trisomy 5
Gulcin Gunden1, Sevgi Isik1, Canan Ozdemir2
1Department of Medical Genetics, Faculty of Medicine, University of Eskisehir Osmangazi, Eskisehir, Turkey.
Cancer Genetics
|July 5, 2021
Summary
This study reports a rare case of biphenotypic acute leukemia (BAL) with a double Philadelphia chromosome and trisomy 5. These genomic aberrations indicate a poor prognosis, highlighting the need for further research in BAL.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Biphenenthic acute leukemias (BAL) are rare hematologic malignancies characterized by myeloid and lymphoid cell involvement.
- Common genomic aberrations in BAL, such as t(9;22) and 11q23 translocations, are associated with poor prognosis.
Observation:
- This report details a unique BAL case with a double Philadelphia chromosome and trisomy 5.
- Genomic alterations were identified using both molecular and conventional cytogenetic techniques.
Findings:
- The presence of a double Philadelphia chromosome, a known poor prognostic marker, was observed.
- Trisomy 5 was detected in conjunction with the double Philadelphia chromosome, adding complexity to the genomic landscape.
Implications:
- This case is the first to describe these specific aberrations alongside the Philadelphia chromosome in BAL, offering novel prognostic insights.
- The findings underscore the necessity for more case reports to elucidate the prognostic significance of diverse genomic anomalies in BAL.
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