Inversions of chromosomes 2 and 6 in mantle cell lymphoma. Cytogenetic, FISH, and molecular studies

• Published in: Cancer genetics and cytogenetics 2006-06, Vol.167 (2), p.164-167
• Main Authors: Pedrazzini, Estela, Cerretini, Roxana, Noriega, María Fernanda, Narbaitz, Marina, Palacios, María Fernanda, Negri, Pedro, Bengió, Raquel, Slavutsky, Irma
• Format: Article
• Language: English
• Subjects: Adult; Aged; Aged, 80 and over; Chromosome Inversion; Chromosomes, Human, Pair 2 - ultrastructure; Chromosomes, Human, Pair 6 - ultrastructure; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Lymphoma, Mantle-Cell - diagnosis; Lymphoma, Mantle-Cell - genetics; Male; Polymerase Chain Reaction
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/j.cancergencyto.2005.12.004

Inversions are infrequent events in hematological malignancies. We here report the cytogenetic, fluorescence in situ hybridization (FISH), and molecular studies of 2 patients diagnosed with mantle cell lymphoma (MCL) that showed inversions of chromosomes 2 and 6 as part of complex karyotypes. Both patients showed a cytogenetically identical inv(6)(p23q11) detected as a secondary aberration. In addition, both patients had a derivative chromosome 2 which originated by partial deletion of the short arm and a pericentric inversion with different breakpoints on the long arm: der(2)del(2)(p21)inv(2)(p21q11) and der(2)del(2)(p21)inv(2)(p21q13), respectively. The presence of t(11;14)(q13;q32) was confirmed by interphase FISH and by molecular study. Residual normal cells were found in both cases. The patients showed a different clinical evolution with a poor outcome for one case and a favorable course of the disease for the other one. The review of the literature in MCL showed a total of 9 inversions affecting different chromosomes. Considering that inversions are very infrequent events in MCL, our findings could be important for detecting genes potentially involved in development and/or progression of this aggressive non-Hodgkin lymphoma subtype.