A t(17;20)(q21;q12) masking a variant t(15;17)(q22;q21) in a patient with acute promyelocytic leukemia
Department of Hematology, Hospital Universitario La Fe, Avenida Campanar, 21, 46009 Valencia, Spain.Cancer Genetics and Cytogenetics (Impact Factor: 1.93). 08/2006; 168(1):73-6. DOI: 10.1016/j.cancergencyto.2005.12.014
Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, the t(15;17)(q22;q21), which results in the fusion gene PML/RARA. A small proportion of patients with APL have complex or simple variants of this translocation. We report the case of a 31-year-old woman with APL (FAB-M3 classical form) carrying an apparently balanced translocation t(17;20)(q21;q12) masking a t(15;17)(q22;q21) confirmed by fluorescence in situ hybridization (FISH) and molecular studies. The patient was treated with an all-trans-retinoic acid (ATRA) plus anthracycline-based protocol and achieved complete remission, with no recurrence to date. These results illustrate the usefulness of combining cytogenetics, FISH, and reverse transcription-polymerase chain reaction (RT-PCR) methods to evidence the PML/RARA fusion gene in cases with morphologic suspicion of APL with variant or cryptic t(15;17).
- [Show abstract] [Hide abstract]
ABSTRACT: Synovial sarcoma is cytogenetically characterized by the specific translocation t(X;18)(p11.2;q11.2), which results in the fusion of the SYT gene from chromosome 18 (18q11) with one of the genes from the X chromosome (Xp11) SSX1, SSX2, or SSX4. We present the case of a 51-year-old woman with a diagnosis of monophasic synovial sarcoma in which chromosome banding analysis did not reveal the presence of the typical t(X;18)(p11.2;q11.2), but instead found monosomy of chromosomes X and 18 and a marker chromosome. FISH analyses of the marker chromosome showed a rearrangement of the 5'SYT region and the presence of pericentromeric sequences of chromosomes 18 and X. Comparative genomic hybridization detected losses of Xq21qter, 18p, and 18q12qter, indicating that the marker also contained DNA sequences from Xp22q21, and reverse-transcription polymerase chain reaction demonstrated a SYT-SSX2 fusion transcript. We uncovered a complex cryptic rearrangement that gives rise to the characteristic SYT-SSX2 fusion gene in a monophasic synovial sarcoma.
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.