The rare translocation, t(12;22)(p13;q12) is characteristic of myeloid leukemia, but not restricted to a particular FAB subtype
- Univ. of Pittsburgh, PA (United States); and others
The translocation, t(12;22)(p13;q12) was first described as a clonal chromosome rearrangement in two patients with acute myelomonocytic leukemia (AMMoL), FAB subtype M4. Five additional patients with this translocation have been reported in the literature. Only one of these had AMMoL-M4, while four others were diagnosed with acute myeloblastic leukemia (AML-M1), acute megakaryocytic leukemia (M7), acute meylomegakaryocytic leukemia, or atypical chronic myelocytic leukemia (CML) without the BCR/ABL gene rearrangement. The resemblance of the der(22) t(12;22)(p13;q12) to the Philadelphia chromosome (Ph) suggested that it might be a cryptic PH variant. However, three patients examined were BCR/ABL gene rearrangement-negative. We present a 77-year-old woman with a 5 yr history of anemia, followed by leukopenia and thrombocytopenia. The bone marrow morphology was consistent with AML-M2. Chromosome analysis of 20 trypsin-Giemsa banded metaphase cells from 24- and 72-hour harvests of unstimulated bone marrow aspirate cell cultures revealed a 46,XX,add(9)(p22),t(12;22)(p13;q12)(19)/46,XX(1) karyotype. Interphase fluorescence in situ hybridization (FISH) for the BCR/ABL gene rearrangement was negative, ruling out a cryptic Ph variant. The patient had a very aggressive clinical course and died two months after diagnosis. In examining these eight cases, we suggest that the t(12;22)(p13;q12) represents a rare acquired chromosome rearrangement in acute myeloid leukemia that has no significant association with a particular FAB subtype. The genes involved in this translocation remain to be elucidated.
- OSTI ID:
- 133574
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0302
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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