PMID- 7542913 OWN - NLM STAT- MEDLINE DCOM- 19950906 LR - 20191023 IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 13 IP - 2 DP - 1995 Jun TI - Childhood acute lymphoblastic leukemia with equivocal chromosome markers of the t(1;19) translocation. PG - 99-103 AB - The t(1;19)(q23;p13) or its derivative encodes an E2A-PBXI fusion transcript and protein that has been shown to have important prognostic and therapeutic implications in patients with acute lymphoblastic leukemia (ALL). We describe two childhood cases in which a der(22)t(1;22)(q21-23;p13) cytogenetically mimicked a der(19)t(1;19)(q23;p13). In one case, which was phenotyped as early pre-B ALL with hyperdiploidy but lacked evidence of an E2A-PBX1 gene fusion by molecular study, the poor banding quality of chromosomes led to misinterpretation of the cytogenetic findings; a correct diagnosis was established only after analysis by the fluorescence in situ hybridization (FISH) method. The second case, which was classified as pseudodiploid pre-B ALL, had both a derivative 19 and a derivative 22 but lacked sufficient cells for evaluation of E2A-PBX1 gene fusion. This case was included in order to compare the der(19)t(1;19) and the der(22)t(1;22) and to pinpoint the difficulty in distinguishing these markers. FISH analysis can resolve diagnostic uncertainty in cases of ALL with equivocal chromosome 19 markers. FAU - Filatov, L V AU - Filatov LV AD - Department of Pathology and Laboratory Medicine, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA. FAU - Behm, F G AU - Behm FG FAU - Pui, C H AU - Pui CH FAU - Head, D R AU - Head DR FAU - Downing, J R AU - Downing JR FAU - Raimondi, S C AU - Raimondi SC LA - eng GR - CA 20180/CA/NCI NIH HHS/United States GR - CA 21765/CA/NCI NIH HHS/United States PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 0 (Genetic Markers) SB - IM MH - Child, Preschool MH - *Chromosomes, Human, Pair 1 MH - *Chromosomes, Human, Pair 19 MH - Female MH - Genetic Markers/genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Male MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics MH - *Translocation, Genetic EDAT- 1995/06/01 00:00 MHDA- 1995/06/01 00:01 CRDT- 1995/06/01 00:00 PHST- 1995/06/01 00:00 [pubmed] PHST- 1995/06/01 00:01 [medline] PHST- 1995/06/01 00:00 [entrez] AID - 10.1002/gcc.2870130205 [doi] PST - ppublish SO - Genes Chromosomes Cancer. 1995 Jun;13(2):99-103. doi: 10.1002/gcc.2870130205.