Molecular cytogenetic analysis of follicular lymphoma (FL) provides detailed characterization of chromosomal instability associated with the t(14;18)(q32;q21) positive and negative subsets and histologic progression Journal Article


Authors: Nanjangud, G.; Rao, P. H.; Teruya-Feldstein, J.; Donnelly, G.; Qin, J.; Mehra, S.; Jhanwar, S. C.; Zelenetz, A. D.; Chaganti, R. S. K.
Article Title: Molecular cytogenetic analysis of follicular lymphoma (FL) provides detailed characterization of chromosomal instability associated with the t(14;18)(q32;q21) positive and negative subsets and histologic progression
Abstract: We analyzed a cohort of 61 follicular lymphomas (FL) with an abnormal G-banded karyotype by spectral karyotyping (SKY) to better define the chromosome instability associated with the t(14;18)(q32;q21) positive and negative subsets of FL and histologic grade. In more than 70% of the patients, SKY provided additional cytogenetic information and up to 40% of the structural abnormalities were revised. The six most frequent breakpoints in both SKY and G-banding analyses were 14q32, 18q21, 3q27, 1q11-q21, 6q11-q15 and 1p36 (15-77%). SKY detected nine additional sites (1p11-p13, 2p11-p13, 6q21, 8q24, 6q21, 9p13, 10q22-q24, 12q11-q13 and 17q11-q21) at an incidence of >10%. In addition to the known recurring translocations, t(14;18)(q32;q21) [70%], t(3;14)(q27;q32) [10%], t(1;14)(q21;q32) [5%] and t(8;14)(q24;q32) [2%] and their variants, 125 non-IG gene translocations were identified of which four were recurrent within this series. In contrast to G-banding analysis, SKY revealed a greater degree of karyotypic instability in the t(14;18) (q32;q21) negative subset compared to the t(14;18)(q32;q21) positive subset. Translocations of 3q27 and gains of chromosome 1 were significantly more frequent in the former subset. SKY also allowed a better definition of chromosomal imbalances, thus 37% of the deletions detected by G-banding were shown to be unbalanced translocations leading to gain of genetic material. The majority of recurring (>10%) imbalances were detected at a greater (2-3 fold) incidence by SKY and several regions were narrowed down, notably at gain 2p13-p21, 2q11-q21, 2q31-q37, 12q12-q15, 17q21-q25 and 18q21. Chromosomal abnormalities among the different histologic grades were consistent with an evolution from low to high grade disease and breaks at 6q11-q15 and 8q24 and gain of 7/7q and 8/8q associated significantly with histologic progression. This study also indicates that in addition to gains and losses, non-IG gene translocations involving 1p11-p13, 1p36, 1q11-q21, 8q24, 9p13, and 17q11-q21 play an important role in the histologic progression of FL with t(14;18)(q32;q21) and t(3q27). Copyright © 2007 S. Karger AG.
Keywords: adult; controlled study; human tissue; aged; aged, 80 and over; middle aged; gene translocation; major clinical study; molecular genetics; chromosome 1; in situ hybridization, fluorescence; incidence; chromosome 9p; cohort analysis; genetic association; histology; chromosome aberration; disease progression; chromosomal instability; translocation, genetic; tumor growth; chromosome analysis; karyotype; karyotyping; follicular lymphoma; lymphoma, follicular; chromosome 1q; chromosome 12q; chromosome 6q; chromosome 17q; chromosome 14q; chromosome 1p; chromosome 3q; chromosome 8q; chromosome 10q; spectral karyotyping; chromosome 18q; chromosome banding; chromosome 2p; chromosomes, human, pair 14; chromosome high resolution banding analysis; chromosomes, human, pair 18
Journal Title: Cytogenetic and Genome Research
Volume: 118
Issue: 2-4
ISSN: 1424-8581
Publisher: S. Karger AG  
Date Published: 2007-01-01
Start Page: 337
End Page: 344
Language: English
DOI: 10.1159/000108318
PUBMED: 18000388
PROVIDER: scopus
DOI/URL:
Notes: --- - "Cited By (since 1996): 4" - "Export Date: 17 November 2011" - "CODEN: CGRYA" - "Source: Scopus"
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MSK Authors
  1. Julie T Feldstein
    288 Feldstein
  2. Sukhvarsha Mehra
    4 Mehra
  3. Jing Qin
    86 Qin
  4. Andrew D Zelenetz
    556 Zelenetz
  5. Raju S K Chaganti
    276 Chaganti
  6. Suresh C Jhanwar
    217 Jhanwar