Heterogeneity in the Breakpoints in Balanced Rearrangements Involving Band 12p13 in Hematologic Malignancies Identified by Fluorescence In Situ Hybridization: TEL (ETV6 ) Is Involved in Only One Half
Yuko Sato,
Stefan K. Bohlander,
Hirofumi Kobayashi,
Shalini Reshmi,
Yoshimasa Suto,
Elizabeth M. Davis,
Rafael Espinosa III,
Richard Hoopes,
Kate T. Montgomery,
Raju S. Kucherlapati,
Michelle M. Le Beau, and
Janet D. Rowley
From the University of Chicago, Department of Medicine, Section of Hematology/Oncology, Chicago, IL; the Division of Intractable Disease, Research Institute, International Medical Center of Japan, Tokyo, Japan; the Institut für Humangenetik, Göttingen, Germany; the Hematology Clinic, Saitama Cancer Center Hospital, Saitama, Japan; Hirosaki University, School of Medicine, Department of Pediatrics, Aomori, Japan; the Department of Medicine, SUNY Health Science Center, Syracuse, NY; and the Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY.
Using fluorescence in situ hybridization (FISH) and probes located on 12p12.1 to 13.3, we studied the breakpoints of 23 patients who had various hematologic malignant diseases and who had 12p13-balanced translocations (21 patients), inversion (1 patient), or insertion (1 patient). Among them, 14 patients had breakpoints within YAC964c10, which contains the TEL (ETV6 ) gene and in 12 of these with balanced translocations or insertion, the FISH results suggested that TEL was involved. Two of the 14 patients, patients no. 13 and 14, had breakpoints in YAC 964C10 that were centromeric to TEL but telomeric to KIP1. In the other 9 patients whose breakpoints did not fall within the YAC, the breakpoints were found telomeric to the YAC in at least three different locations on distal 12p. These results indicated that TEL was involved in only half (12 of 23) of the patients with balanced 12p13 rearrangements and that there probably were several other breakpoint cluster regions on 12p13, suggesting that genes other than TEL were involved in these rearrangements.
Blood, Vol. 90 No. 12 (December 15), 1997:
pp. 4886-4893
© 1997 by The American Society of Hematology.
