Human Genetics

Publication date: 2005-05
Volume: 116 Pages: 476 - 485
ISSN: 0340-6717, 1432-1203
DOI: 10.1007/s00439-005-1268-1
Publisher: Springer-Verlag


Lahortiga, I
Vázquez, Iria ; Belloni, E ; Roman, J ; Gasparini, P ; Novo, FJ ; Zudaire, I ; Pelicci, PG ; Hernandez, JM ; Calasanz, MJ ; Odero, MD


non-hodgkin-lymphoma, in-situ hybridization, chromosome 1p, molecular characterization, myelodysplastic syndrome, human neuroblastoma, allelic loss, cell-lines, malignancies, cancer, 0604 Genetics, 1104 Complementary And Alternative Medicine, 1114 Paediatrics And Reproductive Medicine, Genetics & Heredity


Rearrangements in the distal region of the short arm of chromosome 1 are recurrent aberrations in a broad spectrum of human neoplasias. However, neither the location of the breakpoints (BP) on 1p36 nor the candidate genes have been fully determined. We have characterized, by fluorescence in situ hybridization ( FISH), the BP in 26 patients with hematological neoplasias and 1p36 rearrangements in the G-banding karyotype. FISH allowed a better characterization of all samples analyzed. Nine cases (35%) showed reciprocal translocations, 15 (58%) unbalanced rearrangements, and two (7%) deletions. We describe two new recurrent aberrations. In 18 of the 26 cases analyzed the BP were located in band 1p36, which is 25.5 Mb long. In 14 of these 18 cases (78%) and without distinction between myeloid and lymphoid neoplasias, the BP clustered in a 2.5 Mb region located between 1p36.32 and the telomere. Interestingly, this region is contained in the 10.5 Mb cluster on 1p36.22- 1pter defined in cases with 1p36 deletion syndrome. The 2.5 Mb region, located on 1p36.32-1pter, has a higher frequency of occurrence of tandem repeats and segmental duplications larger than 1 kb, when compared with the 25.5 Mb of the complete 1p36 band. This could explain its proneness for involvement in chromosomal rearrangements in hematological neoplasias.