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Two main genetic pathways lead to the transformation of chronic lymphocytic leukemia to Richter syndrome.

Publication ,  Journal Article
Chigrinova, E; Rinaldi, A; Kwee, I; Rossi, D; Rancoita, PMV; Strefford, JC; Oscier, D; Stamatopoulos, K; Papadaki, T; Berger, F; Young, KH ...
Published in: Blood
October 10, 2013

Richter syndrome (RS) occurs in up to 15% of patients with chronic lymphocytic leukemia (CLL). Although RS, usually represented by the histologic transformation to a diffuse large B-cell lymphoma (DLBCL), is associated with a very poor outcome, especially when clonally related to the preexisting CLL, the mechanisms leading to RS have not been clarified. To better understand the pathogenesis of RS, we analyzed a series of cases including 59 RS, 28 CLL phase of RS, 315 CLL, and 127 de novo DLBCL. RS demonstrated a genomic complexity intermediate between CLL and DLBCL. Cell-cycle deregulation via inactivation of TP53 and of CDKN2A was a main mechanism in the histologic transformation from CLL phase, being present in approximately one half of the cases, and affected the outcome of the RS patients. A second major subgroup was characterized by the presence of trisomy 12 and comprised one third of the cases. Although RS shared some of the lesions seen in de novo DLBCL, its genomic profile was clearly separate. The CLL phase preceding RS had not a generalized increase in genomic complexity compared with untransformed CLL, but it presented clear differences in the frequency of specific genetic lesions.

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Published In

Blood

DOI

EISSN

1528-0020

Publication Date

October 10, 2013

Volume

122

Issue

15

Start / End Page

2673 / 2682

Location

United States

Related Subject Headings

  • Tumor Suppressor Protein p53
  • Trisomy
  • Middle Aged
  • Male
  • Lymphoma, Large B-Cell, Diffuse
  • Leukemia, Lymphocytic, Chronic, B-Cell
  • Immunology
  • Humans
  • Genome-Wide Association Study
  • Genes, p16
 

Citation

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Chigrinova, E., Rinaldi, A., Kwee, I., Rossi, D., Rancoita, P. M. V., Strefford, J. C., … Bertoni, F. (2013). Two main genetic pathways lead to the transformation of chronic lymphocytic leukemia to Richter syndrome. Blood, 122(15), 2673–2682. https://doi.org/10.1182/blood-2013-03-489518
Chigrinova, Ekaterina, Andrea Rinaldi, Ivo Kwee, Davide Rossi, Paola M. V. Rancoita, Jonathan C. Strefford, David Oscier, et al. “Two main genetic pathways lead to the transformation of chronic lymphocytic leukemia to Richter syndrome.Blood 122, no. 15 (October 10, 2013): 2673–82. https://doi.org/10.1182/blood-2013-03-489518.
Chigrinova E, Rinaldi A, Kwee I, Rossi D, Rancoita PMV, Strefford JC, et al. Two main genetic pathways lead to the transformation of chronic lymphocytic leukemia to Richter syndrome. Blood. 2013 Oct 10;122(15):2673–82.
Chigrinova, Ekaterina, et al. “Two main genetic pathways lead to the transformation of chronic lymphocytic leukemia to Richter syndrome.Blood, vol. 122, no. 15, Oct. 2013, pp. 2673–82. Pubmed, doi:10.1182/blood-2013-03-489518.
Chigrinova E, Rinaldi A, Kwee I, Rossi D, Rancoita PMV, Strefford JC, Oscier D, Stamatopoulos K, Papadaki T, Berger F, Young KH, Murray F, Rosenquist R, Greiner TC, Chan WC, Orlandi EM, Lucioni M, Marasca R, Inghirami G, Ladetto M, Forconi F, Cogliatti S, Votavova H, Swerdlow SH, Stilgenbauer S, Piris MA, Matolcsy A, Spagnolo D, Nikitin E, Zamò A, Gattei V, Bhagat G, Ott G, Zucca E, Gaidano G, Bertoni F. Two main genetic pathways lead to the transformation of chronic lymphocytic leukemia to Richter syndrome. Blood. 2013 Oct 10;122(15):2673–2682.

Published In

Blood

DOI

EISSN

1528-0020

Publication Date

October 10, 2013

Volume

122

Issue

15

Start / End Page

2673 / 2682

Location

United States

Related Subject Headings

  • Tumor Suppressor Protein p53
  • Trisomy
  • Middle Aged
  • Male
  • Lymphoma, Large B-Cell, Diffuse
  • Leukemia, Lymphocytic, Chronic, B-Cell
  • Immunology
  • Humans
  • Genome-Wide Association Study
  • Genes, p16