FISH Finds More Chromosomal Abnormalities than does Cytogenetic Analysis

November 1, 2006

Cancer Genet Cytogenet. 2006 Nov;171(1):57-64.

Genetic abnormalities and clinical outcome in chronic lymphocytic

leukemia.

Ripolles L, Ortega M, Ortuno F, A, Losada J, Ojanguren J,

Soler JA, Bergua J, Coll MD, Caballin MR.

Anthropologic Biology Unit, Animal Biology, Vegetal Biology and

Ecology Department, Autonomus University of Barcelona, Edifici C,

08193 Bellaterra, Barcelona, Spain; Cytogenetics Department, Balague

Center, Hospitalet de Llobregat, Barcelona, Spain.

B-cell chronic lymphocytic leukemia (B-CLL) is the most common

leukemia in the elderly population.

Under conventional cytogenetic (CC) analysis, approximately 50% of

CLL cases show clonal aberrations. Using fluorescent in situ

hybridization (FISH), the percentage of patients with abnormalities

rises to almost 80%, the most frequent being 13q14, ATM, and TP53

deletions and trisomy 12.

The aim of this study was to establish the incidence of genetic

changes in B-CLL patients using CC and FISH and to evaluate the

prognostic implications.

Of the 65 patients analyzed, genetic aberrations were found in 36.7%

with CC and in 68.4% with FISH. The frequencies of abnormalities

were as follows: 13q deletion, 42.1%; trisomy 12, 19.2%; ATM

deletion, 17.5%; and TP53 deletion, 8.7%.

Significant differences were observed when the overall survival was

correlated with Rai stage (P = 0.000). FISH abnormalities were

correlated with age, sex, morphology, white blood cell count, CD38

expression, Rai stage, disease status, and survival. Significant

differences were obtained with age (P = 0.05) and disease status (P

= 0.01).

Deletion of 13q was the most frequent abnormality (36.6%) among old

patients (>/=60); trisomy 12 was the most frequent (31.3%) in

younger patients (<60). Half of the patients with stable disease

showed 13q deletion, and the most frequent abnormality in patients

with progressive disease was ATM deletion (22.2%).

PMID: 17074592 [PubMed - in process]

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