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Acute myeloid leukemia with cryptic CBFB-MYH11 type D
Takashi Kobayashi1, Motoshi Ichikawa, Yasuhiko Kamikubo
1Department of Hematology and Oncology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
International Journal of Clinical and Experimental Pathology
|December 14, 2012
Summary
Detecting cryptic inv(16) Type D in acute myeloid leukemia requires advanced molecular techniques. Fluorescence in situ hybridization (FISH) and RT-PCR are crucial for accurate diagnosis of this rare fusion product.
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy.
- FAB M4Eo subtype of AML is associated with specific genetic alterations.
- Conventional cytogenetics can miss cryptic chromosomal rearrangements.
Observation:
- A 77-year-old female presented with FAB M4Eo acute myeloid leukemia.
- CBFB-MYH11 mRNA was detected via RT-PCR.
- Conventional cytogenetics did not identify the expected inv(16) translocation.
Findings:
- Fluorescence in situ hybridization (FISH) and sequencing identified a CBFB-MYH11 fusion (exon 5 and exon 8).
- This fusion represents a rare Type D variant of the inv(16) translocation.
- The cryptic nature of this rearrangement eluded standard cytogenetic analysis.
Implications:
- Accurate diagnosis of cryptic inv(16) Type D requires a combination of FISH and RT-PCR.
- Proper primer selection is essential for sequence analysis in diagnosing this variant.
- These findings highlight the importance of integrated molecular diagnostics in AML.
