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Biphenotypic acute leukemia with t(15;17).

M P Scolnik¹, P Negri Aranguren, M T Cuello

¹IIHEMA, Academia Nacional de Medicina de Buenos Aires.

Leukemia & Lymphoma

|July 16, 2005

Summary

This study reports a rare case of biphenotypic acute leukemia (BAL) with an unusual t(15;17) genetic abnormality. Comprehensive diagnostic methods confirmed the co-expression of myeloid and B-lymphoid markers in this challenging leukemia.

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Area of Science:

Hematology
Oncology
Cytogenetics

Background:

Biphenotypic acute leukemia (BAL) is a rare subtype of acute leukemia, accounting for approximately 5% of all cases.
Commonly associated cytogenetic abnormalities include the Philadelphia chromosome and 11q23 rearrangements.
Accurate diagnosis is crucial for effective treatment strategies.

Observation:

A case of BAL presented with blasts exhibiting lymphoblast morphology and focal myeloperoxidase positivity.
Immunophenotyping confirmed the co-occurrence of myeloid and B-lymphoid lineage markers.
Cytogenetic analysis revealed the uncommon t(15;17) translocation and trisomy 8.

Findings:

Fluorescent in situ hybridization (FISH) detected the PML/RARa rearrangement.
Reverse transcription-polymerase chain reaction (RT-PCR) confirmed the PML/RARa fusion transcript in bone marrow and peripheral blood.

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These findings indicate a BAL case with an infrequent genetic abnormality.

Implications:

This case underscores the importance of integrating multiple diagnostic techniques, including morphology, immunophenotyping, cytogenetics, and molecular studies, for accurate BAL diagnosis.
Correlating diverse diagnostic results is essential for guiding appropriate treatment decisions in BAL patients.
Understanding rare genetic abnormalities in BAL can improve patient outcomes and inform future research.