PMID- 9760154 OWN - NLM STAT- MEDLINE DCOM- 19981016 LR - 20190921 IS - 0939-5555 (Print) IS - 0939-5555 (Linking) VI - 77 IP - 1-2 DP - 1998 Jul-Aug TI - Molecular detection of a late-appearing BCR-ABL gene in a child with T-cell acute lymphoblastic leukemia. PG - 55-9 AB - Approximately 2-5% of children with newly diagnosed acute lymphoblastic leukemia (ALL) have a Philadelphia (Ph) chromosome detectable on cytogenetic analysis, which is associated with a poor prognosis. In rare ALL cases the Ph chromosome may appear in leukemic cells during the course of the disease. We report here the case of a 5.5-year-old male patient with T-ALL who was found to have the b2a2 BCR-ABL mRNA transcript by reverse transcriptase-polymerase chain reaction (RT-PCR) at first marrow relapse. At the time of initial diagnosis, no BCR-ABL transcripts had been detected by PCR in the patient's blood and marrow samples. Further studies were performed using a competitive PCR titration assay and the fluorescence in situ hybridization (FISH) method to monitor the leukemic clone. Progression of the disease was associated with a higher BCR-ABL transcript level and an increasing proportion of BCR-ABL-positive cells. Metaphase FISH analysis identified the presence of the BCR-ABL fusion gene on a normal chromosome 22. This study shows that a late-appearing Ph translocation in ALL may be cytogenetically invisible. Quantitative RT-PCR and FISH techniques are appropriate and efficient methods for detecting these rare ALL variants expressing the BCR-ABL fusion gene and for estimating the level of residual disease following treatment. FAU - Tchirkov, A AU - Tchirkov A AD - Laboratoire de Cytogenetique Medicale, Faculte de Medecine, Clermont-Ferrand, France. FAU - Bons, J M AU - Bons JM FAU - Chassagne, J AU - Chassagne J FAU - Schoepfer, C AU - Schoepfer C FAU - Kanold, J AU - Kanold J FAU - Briancon, G AU - Briancon G FAU - Giollant, M AU - Giollant M FAU - Malet, P AU - Malet P FAU - Demeocq, F AU - Demeocq F LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Germany TA - Ann Hematol JT - Annals of hematology JID - 9107334 RN - EC 2.7.10.2 (Fusion Proteins, bcr-abl) SB - IM MH - Child MH - Cytogenetics MH - Fusion Proteins, bcr-abl/*genetics MH - *Genes, Neoplasm MH - Humans MH - Karyotyping MH - Leukemia-Lymphoma, Adult T-Cell/*genetics MH - Male EDAT- 1998/10/06 00:00 MHDA- 1998/10/06 00:01 CRDT- 1998/10/06 00:00 PHST- 1998/10/06 00:00 [pubmed] PHST- 1998/10/06 00:01 [medline] PHST- 1998/10/06 00:00 [entrez] AID - 10.1007/s002770050412 [doi] PST - ppublish SO - Ann Hematol. 1998 Jul-Aug;77(1-2):55-9. doi: 10.1007/s002770050412.