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The genetics of Richter syndrome reveals disease heterogeneity and predicts survival after transformation.

Publication ,  Journal Article
Rossi, D; Spina, V; Deambrogi, C; Rasi, S; Laurenti, L; Stamatopoulos, K; Arcaini, L; Lucioni, M; Rocque, GB; Xu-Monette, ZY; Visco, C; Foà, R ...
Published in: Blood
March 2011

Richter syndrome (RS) represents the development of diffuse large B-cell lymphoma in the context of chronic lymphocytic leukemia. The scarcity of biologic information about RS has hampered the identification of molecular predictors of RS outcome. We addressed this issue by performing a comprehensive molecular characterization of 86 pathologically proven RS. TP53 disruption (47.1%) and c-MYC abnormalities (26.2%) were the most frequent alterations, whereas common genetic lesions of de novo diffuse large B-cell lymphoma were rare or absent. By multivariate analysis, lack of TP53 disruption (hazard ratio, 0.43; P = .003) translated into significant survival advantage with 57% reduction in risk of death. An algorithm based on TP53 disruption, response to RS treatment, and Eastern Cooperative Oncology Group performance status had 80.9% probability of correctly discriminating RS survival (c-index = .809). RS that were clonally unrelated to the paired chronic lymphocytic leukemia phase were clinically and biologically different from clonally related RS because of significantly longer survival (median, 62.5 months vs 14.2 months; P = .017) and lower prevalence of TP53 disruption (23.1% vs 60.0%; P = .018) and B-cell receptor stereotypy (7.6% vs 50.0%; P = .009). The molecular dissection of RS into biologically distinct categories highlights the genetic heterogeneity of this disorder and provides clinically relevant information for refining the prognostic stratification of patients.

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Published In

Blood

DOI

EISSN

1528-0020

ISSN

0006-4971

Publication Date

March 2011

Volume

117

Issue

12

Start / End Page

3391 / 3401

Related Subject Headings

  • Survival Analysis
  • Prognosis
  • Mutation
  • Multicenter Studies as Topic
  • Molecular Diagnostic Techniques
  • Middle Aged
  • Male
  • Immunology
  • Immunologic Deficiency Syndromes
  • Humans
 

Citation

APA
Chicago
ICMJE
MLA
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Rossi, D., Spina, V., Deambrogi, C., Rasi, S., Laurenti, L., Stamatopoulos, K., … Gaidano, G. (2011). The genetics of Richter syndrome reveals disease heterogeneity and predicts survival after transformation. Blood, 117(12), 3391–3401. https://doi.org/10.1182/blood-2010-09-302174
Rossi, Davide, Valeria Spina, Clara Deambrogi, Silvia Rasi, Luca Laurenti, Kostas Stamatopoulos, Luca Arcaini, et al. “The genetics of Richter syndrome reveals disease heterogeneity and predicts survival after transformation.Blood 117, no. 12 (March 2011): 3391–3401. https://doi.org/10.1182/blood-2010-09-302174.
Rossi D, Spina V, Deambrogi C, Rasi S, Laurenti L, Stamatopoulos K, et al. The genetics of Richter syndrome reveals disease heterogeneity and predicts survival after transformation. Blood. 2011 Mar;117(12):3391–401.
Rossi, Davide, et al. “The genetics of Richter syndrome reveals disease heterogeneity and predicts survival after transformation.Blood, vol. 117, no. 12, Mar. 2011, pp. 3391–401. Epmc, doi:10.1182/blood-2010-09-302174.
Rossi D, Spina V, Deambrogi C, Rasi S, Laurenti L, Stamatopoulos K, Arcaini L, Lucioni M, Rocque GB, Xu-Monette ZY, Visco C, Chang J, Chigrinova E, Forconi F, Marasca R, Besson C, Papadaki T, Paulli M, Larocca LM, Pileri SA, Gattei V, Bertoni F, Foà R, Young KH, Gaidano G. The genetics of Richter syndrome reveals disease heterogeneity and predicts survival after transformation. Blood. 2011 Mar;117(12):3391–3401.

Published In

Blood

DOI

EISSN

1528-0020

ISSN

0006-4971

Publication Date

March 2011

Volume

117

Issue

12

Start / End Page

3391 / 3401

Related Subject Headings

  • Survival Analysis
  • Prognosis
  • Mutation
  • Multicenter Studies as Topic
  • Molecular Diagnostic Techniques
  • Middle Aged
  • Male
  • Immunology
  • Immunologic Deficiency Syndromes
  • Humans