PMID- 16772124 OWN - NLM STAT- MEDLINE DCOM- 20060727 LR - 20131121 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 168 IP - 1 DP - 2006 Jul 1 TI - A t(17;20)(q21;q12) masking a variant t(15;17)(q22;q21) in a patient with acute promyelocytic leukemia. PG - 73-6 AB - 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). FAU - Garcia-Casado, Zaida AU - Garcia-Casado Z AD - Department of Hematology, Hospital Universitario La Fe, Avenida Campanar, 21, 46009 Valencia, Spain. FAU - Cervera, Jose AU - Cervera J FAU - Valencia, Ana AU - Valencia A FAU - Pajuelo, Juan C AU - Pajuelo JC FAU - Mena-Duran, Armando V AU - Mena-Duran AV FAU - Barragan, Eva AU - Barragan E FAU - Bolufer, Pascual AU - Bolufer P FAU - Sanz, Miguel A AU - Sanz MA LA - eng PT - Case Reports PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (Anthracyclines) RN - 0 (Neoplasm Proteins) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein) RN - 5688UTC01R (Tretinoin) SB - IM MH - Adult MH - Anthracyclines/therapeutic use MH - Chromosome Painting MH - Chromosomes, Human, Pair 15/*genetics MH - Chromosomes, Human, Pair 17/*genetics MH - Chromosomes, Human, Pair 20/*genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Promyelocytic, Acute/drug therapy/*genetics MH - Neoplasm Proteins/genetics MH - Oncogene Proteins, Fusion/genetics MH - Remission Induction MH - Reverse Transcriptase Polymerase Chain Reaction MH - Translocation, Genetic/*genetics MH - Tretinoin/therapeutic use EDAT- 2006/06/15 09:00 MHDA- 2006/07/28 09:00 CRDT- 2006/06/15 09:00 PHST- 2005/11/10 00:00 [received] PHST- 2005/12/19 00:00 [revised] PHST- 2005/12/29 00:00 [accepted] PHST- 2006/06/15 09:00 [pubmed] PHST- 2006/07/28 09:00 [medline] PHST- 2006/06/15 09:00 [entrez] AID - S0165-4608(06)00002-1 [pii] AID - 10.1016/j.cancergencyto.2005.12.014 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2006 Jul 1;168(1):73-6. doi: 10.1016/j.cancergencyto.2005.12.014.