A Profile of Trisomy 12 in CLL

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Cancer Genet Cytogenet. 2006 Jul 15;168(2):109-19.

Clinical, immunophenotypic, and molecular profiling of trisomy 12 in

chronic lymphocytic leukemia and comparison with other karyotypic

subgroups defined by cytogenetic analysis.

Athanasiadou A, Stamatopoulos K, Tsompanakou A, Gaitatzi M,

Kalogiannidis P, Anagnostopoulos A, Fassas A, Tsezou A.

Laboratory of Cytogenetics and Molecular Genetics, School of

Medicine, University of Thessaly, Mezourlo, 41222 Larissa, Greece;

Hematology Department and HCT Unit, G. Papanicolaou Hospital, Exokhi,

57010 Thessaloniki, Greece.

In a cohort of 130 unselected chronic lymphocytic leukemia (CLL)

patients, 73 cases had normal karyotypes, 57 cases had abnormal

karyotypes, and 22/57 cases carried more than one abnormality.

Trisomy 12 (+12) was the most common abnormality (26/130 cases; 20%),

and 17/26 cases had isolated +12. Del(13q)/t13q/-13 was detected in

19/130 cases (14.6%), and 5/19 cases had isolated del(13)(q12q14).

Deletion (11)(q23) and del(17p)/-17 were detected in 5/130 cases,

respectively. CD38 expression was significantly more frequent in the

+12/11q/17p versus the normal/del(13q) subgroups. A significant

association was detected between +12 and FMC7 positivity. IGHV-

unmutated cases were significantly more frequent in the +12/11q/17p

subgroups.

Patients with normal karyotype/del(13q) had a longer median time to

progression versus the patients in the +12/11q/17p subgroups.

According to multivariate analysis, only IGHV mutation status

remained a statistically significant variable for progression-free

survival (PFS). Furthermore, IGHV mutation status and clinical stage

at diagnosis were the only significant prognostic factors for overall

survival. Among Binet-A patients, significant parameters for shorter

PFS were +12 or 11q/17p aberrations, CD38 expression, and IGHV

unmutated status. In multivariate analysis, only CD38 expression and

IGHV-unmutated status retained statistical significance for PFS.

In conclusion, trisomy 12 in CLL is characterized by considerable

heterogeneity and seems to be associated with disease progression.

PMID: 16843100 [PubMed - in process]