Cytogenetics of mantle cell lymphoma

Abstract

Aim. To determine the type and rate of secondary chromosomal aberrations and role in pathogenesis of mantle cell lymphoma (MCL).
Material and methods. Standard cytogenetic examination (SCE) and fluorescent in situ hybridization (FISH) with tests for Uq22/ATM, 13ql4, 17pl3/p53, 9p 21/p 16 and chromosome 12 centromere were made in 28 patients.
Results. Secondary chromosomal aberrations were detected in 22 patients. Chromosomal abnormalities occurring in more than 2 cases include deletions 6ql5-q23 (53% cases); 1Ц22/АТМ (50%); 9p21 (36%, in half the cases deletion 9p21 was biallele); 13ql4 (32%); trisomy 3/3q, monosomy 20 and deletions/translocations Iq and Ip (27% and 20%) and deletion 17pl3/p53 (18%). Trisomies 12/12q, 6 and 18/18q, monosomies 2 and 16, deletions/translocations 2p and 16p were found in 2 cases each. The FISH technique identified 9 chromosomal anomalies missed at SCE. Deletions 6ql5q23 were seen in patients with privalent lesions of lymph nodes. Deletions llq, 13ql4, 9p21 and 17pl3 occur more frequently in transformation and the blastoid variant. Monosomy 20 was found only in patients with large cell transformations. This was the only cytogenetic defect characteristic for transformed cases, in contrast to denovoblastoid ones. Thus, deletions 6q, Uq23, 13ql4 and 9p21 are typical for MCL. Deletions 9p2I and 17pl3 are more characteristic for large cell variants of the tumor. Deletion 17pl3 occurs at the terminal stage of the disease in rapidly growing tumor mass and resistance to chemotherapy. FISH technique is effective in detection of submicroscopic rearrangements especially small deletions. No significant differences were found between transformed and de novo blastoid cases. This shows that the blastoid variant is not a specific biological form, it is rather a less typical manifestation of the disease due to some preclinical cytogenetic disorders.
Conclusion. Progression and transformation of MCL are related to mutation of proapoptotic genes and genes proteins of which are inhibitors of active complexes of Dl cycline. Specification of these mechanisms requires further investigations in patients with different clinicomorphological forms of the disease at various stages of the disease.

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Copyright (c) 2004 Obukhova T.N., Lorie Y.Y., Vodinskaya L.A., Alimova G.A., Nikitin E.A., Samoilova R.S., Kaplanskaya I.В., Domracheva E.V.

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