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Deletion of chromosome 13 (band ql4) but not trisomy 12 is a clonal event in B‐chronic lymphocytic leukaemia (CLL)

1995; Wiley; Volume: 90; Issue: 2 Linguagem: Inglês

10.1111/j.1365-2141.1995.tb05180.x

1365-2141

Shireen A. B. Jabbar, K. Ganeshaguru, R G Wickremasinghe, A. VICTOR HOFFBRANU, Letizia Foroni,

Genomic variations and chromosomal abnormalities

Summary. Chromosomal abnormalities are detected by conventional cytogenetic or FISH analysis in 50% of chronic lymphocytic leukaemias (CLL). Trisomy 12 and del 13ql4 account for 70% of these abnormalities. The incidence of these two abnormalities was studied in CLL patients by Southern blot analysis using a highly purified B‐cell malignant population (CD5>95%, CD3 < 5%). Probes for the Dl 3S25 marker on chromosome 13 band ql4 and for the RBTN3 gene on chromosome 12 band pi2‐13, were used. Deletion of the Dl 3S2 5 was detected in 17/42 patients (43%) in a homozygous (9‐5%) or heterozygous (30%) configuration. Deletion of the D13S25 marker appears to be a clonal and early event in CLL development since it is detected in >95% of the malignant clonal population. Conversely, trisomy 12 is rarely a clonal event (5/33 patients, 15%) and a varying proportion of cells carrying this abnormality can be demonstrated in 30% of CLL patients (10/33 patients).