Predisposition for neoplasms in carriers for a constitutional translocation t(11;22)(q23;q11)
- New York Hospital-Cornell Medical Center, New York, NY (United States)
Constitutional chromosomal abnormalities have played a pivital role in the identification of a number of genes leading to tumorigenesis. One of such constitutional reciprocal translocations is t(11;22)(q23;q11), which is the most common. An increased risk in carriers of t(11;22) has ben associated with breast cancer. We were referred a case of acute nonlymphocytic leukemia [ANLL-M4] for cytogenetic evaluation. The cytogenetic findings in her bone marrow cells revealed an abnormal 47,XX,t(11;22)(q23;q11), inv (16)(q13q22),+22 karyotype. Her PHA stimulated blood cells showed only the contitutional chromosomal abnormality, t(11;22)(q23;q11). This is the first reported acute myelomonocytic leukemia [M4] in a patient with this constitutional translocation. The inverted 16 is the most common abnormality in M4. Chromosome 22 is one of the most frequently reported additional chromosomes with the inv(16). However, neither aberration has been associated with this translocation, either constitutional or acquired. In earlier reported neoplasias, no other acquired anomalies were involved with the t(11q;22q). Although it is unknown what significance this constitutional t(11;22) has or the synergistic effect, if any, on these acquired aberrations in AML, familial studies may shed some light on the predisposition of leukemia.
- OSTI ID:
- 134549
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Variant translocations (9; 11): Identification of the critical genetic rearrangement
Chromosome abnormalities in acute lymphoblastic leukemia