Identification of primary mediastinal large B-cell lymphoma at nonmediastinal sites by gene expression profiling

For the Lymphoma Leukemia Molecular Profiling Project (LLMPP)

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

Mediastinal involvement is considered essential for the diagnosis of primary mediastinal large B-cell lymphoma (PMBL). However, we have observed cases of diffuse large B-cell lymphoma (DLBCL) with features of PMBL but without detectable mediastinal involvement. The goal was to assess our previously established gene expression profiling (GEP) signature for PMBL in classifying these cases. In a large series of DLBCL cases, we identified 24 cases with a GEP signature of PMBL, including 9 cases with a submission diagnosis of DLBCL consistent with PMBL (G-PMBL-P) and 15 cases with a submission diagnosis of DLBCL. The pathology reviewers agreed with the diagnosis in the 9 G-PMBL-P cases. Among the other 15 DLBCL cases, 11 were considered to be PMBL or DLBCL consistent with PMBL, 3 were considered to be DLBCL, and 1 case was a gray-zone lymphoma with features intermediate between DLBCL and classical Hodgkin lymphoma. All 9 GPMBL-P and 9 of the 15 DLBCL cases (G-PMBL-M) had demonstrated mediastinal involvement at presentation. Interestingly, 6 of the 15 DLBCL cases (G-PMBL-NM) had no clinical or radiologic evidence of mediastinal involvement. The 3 subgroups of PMBL had otherwise similar clinical characteristics, and there were no significant differences in overall survival. Genetic alterations of CIITA and PDL1/2 were detected in 26% and 40% of cases, respectively, including 1 G-PMBL-NM case with gain of PDL1/2. In conclusion, PMBL can present as a nonmediastinal tumor without evidence of mediastinal involvement, and GEP offers a more precise diagnosis of PMBL.

Original languageEnglish (US)
Pages (from-to)1322-1330
Number of pages9
JournalAmerican Journal of Surgical Pathology
Volume39
Issue number10
StatePublished - Oct 1 2015

Fingerprint

Gene Expression Profiling
B-Cell Lymphoma
Lymphoma, Large B-Cell, Diffuse
Transcriptome
Hodgkin Disease

Keywords

  • CIITA
  • Gene expression profiling
  • PDL1/2
  • Primary mediastinal large B-cell lymphoma

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine
  • Surgery

Cite this

Identification of primary mediastinal large B-cell lymphoma at nonmediastinal sites by gene expression profiling. / For the Lymphoma Leukemia Molecular Profiling Project (LLMPP).

In: American Journal of Surgical Pathology, Vol. 39, No. 10, 01.10.2015, p. 1322-1330.

Research output: Contribution to journalArticle

For the Lymphoma Leukemia Molecular Profiling Project (LLMPP) 2015, 'Identification of primary mediastinal large B-cell lymphoma at nonmediastinal sites by gene expression profiling', American Journal of Surgical Pathology, vol. 39, no. 10, pp. 1322-1330.
For the Lymphoma Leukemia Molecular Profiling Project (LLMPP). / Identification of primary mediastinal large B-cell lymphoma at nonmediastinal sites by gene expression profiling. In: American Journal of Surgical Pathology. 2015 ; Vol. 39, No. 10. pp. 1322-1330.
@article{3f353bf21ffd47fc99d76b519b72fc44,
title = "Identification of primary mediastinal large B-cell lymphoma at nonmediastinal sites by gene expression profiling",
abstract = "Mediastinal involvement is considered essential for the diagnosis of primary mediastinal large B-cell lymphoma (PMBL). However, we have observed cases of diffuse large B-cell lymphoma (DLBCL) with features of PMBL but without detectable mediastinal involvement. The goal was to assess our previously established gene expression profiling (GEP) signature for PMBL in classifying these cases. In a large series of DLBCL cases, we identified 24 cases with a GEP signature of PMBL, including 9 cases with a submission diagnosis of DLBCL consistent with PMBL (G-PMBL-P) and 15 cases with a submission diagnosis of DLBCL. The pathology reviewers agreed with the diagnosis in the 9 G-PMBL-P cases. Among the other 15 DLBCL cases, 11 were considered to be PMBL or DLBCL consistent with PMBL, 3 were considered to be DLBCL, and 1 case was a gray-zone lymphoma with features intermediate between DLBCL and classical Hodgkin lymphoma. All 9 GPMBL-P and 9 of the 15 DLBCL cases (G-PMBL-M) had demonstrated mediastinal involvement at presentation. Interestingly, 6 of the 15 DLBCL cases (G-PMBL-NM) had no clinical or radiologic evidence of mediastinal involvement. The 3 subgroups of PMBL had otherwise similar clinical characteristics, and there were no significant differences in overall survival. Genetic alterations of CIITA and PDL1/2 were detected in 26{\%} and 40{\%} of cases, respectively, including 1 G-PMBL-NM case with gain of PDL1/2. In conclusion, PMBL can present as a nonmediastinal tumor without evidence of mediastinal involvement, and GEP offers a more precise diagnosis of PMBL.",
keywords = "CIITA, Gene expression profiling, PDL1/2, Primary mediastinal large B-cell lymphoma",
author = "{For the Lymphoma Leukemia Molecular Profiling Project (LLMPP)} and Ji Yuan and George Wright and Andreas Rosenwald and Christian Steidl and Gascoyne, {Randy D.} and Connors, {Joseph M.} and Anja Mottok and Weisenburger, {Dennis D.} and Greiner, {Timothy C.} and Kai Fu and Lynette Smith and Rimsza, {Lisa M} and Jaffe, {Elaine S.} and Elias Campo and Antonio Martinez and Jan Delabie and Braziel, {Rita M.} and Cook, {James R.} and German Ott and Vose, {Julie M.} and Staudt, {Louis M.} and Chan, {Wing C.}",
year = "2015",
month = "10",
day = "1",
language = "English (US)",
volume = "39",
pages = "1322--1330",
journal = "American Journal of Surgical Pathology",
issn = "0147-5185",
publisher = "Lippincott Williams and Wilkins",
number = "10",

}

TY - JOUR

T1 - Identification of primary mediastinal large B-cell lymphoma at nonmediastinal sites by gene expression profiling

AU - For the Lymphoma Leukemia Molecular Profiling Project (LLMPP)

AU - Yuan, Ji

AU - Wright, George

AU - Rosenwald, Andreas

AU - Steidl, Christian

AU - Gascoyne, Randy D.

AU - Connors, Joseph M.

AU - Mottok, Anja

AU - Weisenburger, Dennis D.

AU - Greiner, Timothy C.

AU - Fu, Kai

AU - Smith, Lynette

AU - Rimsza, Lisa M

AU - Jaffe, Elaine S.

AU - Campo, Elias

AU - Martinez, Antonio

AU - Delabie, Jan

AU - Braziel, Rita M.

AU - Cook, James R.

AU - Ott, German

AU - Vose, Julie M.

AU - Staudt, Louis M.

AU - Chan, Wing C.

PY - 2015/10/1

Y1 - 2015/10/1

N2 - Mediastinal involvement is considered essential for the diagnosis of primary mediastinal large B-cell lymphoma (PMBL). However, we have observed cases of diffuse large B-cell lymphoma (DLBCL) with features of PMBL but without detectable mediastinal involvement. The goal was to assess our previously established gene expression profiling (GEP) signature for PMBL in classifying these cases. In a large series of DLBCL cases, we identified 24 cases with a GEP signature of PMBL, including 9 cases with a submission diagnosis of DLBCL consistent with PMBL (G-PMBL-P) and 15 cases with a submission diagnosis of DLBCL. The pathology reviewers agreed with the diagnosis in the 9 G-PMBL-P cases. Among the other 15 DLBCL cases, 11 were considered to be PMBL or DLBCL consistent with PMBL, 3 were considered to be DLBCL, and 1 case was a gray-zone lymphoma with features intermediate between DLBCL and classical Hodgkin lymphoma. All 9 GPMBL-P and 9 of the 15 DLBCL cases (G-PMBL-M) had demonstrated mediastinal involvement at presentation. Interestingly, 6 of the 15 DLBCL cases (G-PMBL-NM) had no clinical or radiologic evidence of mediastinal involvement. The 3 subgroups of PMBL had otherwise similar clinical characteristics, and there were no significant differences in overall survival. Genetic alterations of CIITA and PDL1/2 were detected in 26% and 40% of cases, respectively, including 1 G-PMBL-NM case with gain of PDL1/2. In conclusion, PMBL can present as a nonmediastinal tumor without evidence of mediastinal involvement, and GEP offers a more precise diagnosis of PMBL.

AB - Mediastinal involvement is considered essential for the diagnosis of primary mediastinal large B-cell lymphoma (PMBL). However, we have observed cases of diffuse large B-cell lymphoma (DLBCL) with features of PMBL but without detectable mediastinal involvement. The goal was to assess our previously established gene expression profiling (GEP) signature for PMBL in classifying these cases. In a large series of DLBCL cases, we identified 24 cases with a GEP signature of PMBL, including 9 cases with a submission diagnosis of DLBCL consistent with PMBL (G-PMBL-P) and 15 cases with a submission diagnosis of DLBCL. The pathology reviewers agreed with the diagnosis in the 9 G-PMBL-P cases. Among the other 15 DLBCL cases, 11 were considered to be PMBL or DLBCL consistent with PMBL, 3 were considered to be DLBCL, and 1 case was a gray-zone lymphoma with features intermediate between DLBCL and classical Hodgkin lymphoma. All 9 GPMBL-P and 9 of the 15 DLBCL cases (G-PMBL-M) had demonstrated mediastinal involvement at presentation. Interestingly, 6 of the 15 DLBCL cases (G-PMBL-NM) had no clinical or radiologic evidence of mediastinal involvement. The 3 subgroups of PMBL had otherwise similar clinical characteristics, and there were no significant differences in overall survival. Genetic alterations of CIITA and PDL1/2 were detected in 26% and 40% of cases, respectively, including 1 G-PMBL-NM case with gain of PDL1/2. In conclusion, PMBL can present as a nonmediastinal tumor without evidence of mediastinal involvement, and GEP offers a more precise diagnosis of PMBL.

KW - CIITA

KW - Gene expression profiling

KW - PDL1/2

KW - Primary mediastinal large B-cell lymphoma

UR - http://www.scopus.com/inward/record.url?scp=84941793201&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84941793201&partnerID=8YFLogxK

M3 - Article

VL - 39

SP - 1322

EP - 1330

JO - American Journal of Surgical Pathology

JF - American Journal of Surgical Pathology

SN - 0147-5185

IS - 10

ER -