Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond

Rosenquist, Richard; Rosenwald, Andreas; Du, Ming; Gaïdano, Gianluca; Groenen, Patricia J.T.A.; Wotherspoon, Andrew; Ghia, Paolo; Gaulard, Philippe; Campo, Elı́as; Stamatopoulos, Kostas

doi:10.3324/haematol.2015.134510

Cited by 42 publications

(32 citation statements)

References 107 publications

(132 reference statements)

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“…Besides, it was reported that the mutations of six RMGs including TP53, KDR (* 191306) , PIK3CA (* 171834) , ATM (* 607585) , AKT1 (* 164730), and KIT (* 164920) were associated with a poor prognosis in sporadic triple negative breast cancer (Pop et al., ). The diagnostic and prognostic impacts of RMGs (e.g., EZH2 (* 601573) , ELP3 (* 612722), and IDH2 (* 147650)) in lymphoma were surveyed for better clinical decision making (Rosenquist et al., ). Moreover, RMGs (e.g., TET2 (* 612839) , DNMT3A (* 602769) , BAP1 (* 603089), and ASXL1 (* 612990)) involved in histone modification, chromatin remodeling and DNA methylation were associated with adverse outcome in thymic carcinoma (Wang et al., ).…”

Section: Introductionmentioning

confidence: 99%

Genomic landscape and mutational impacts of recurrently mutated genes in cancers

Liu

Zhang

et al. 2018

Molec Gen & Gen Med

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Section: Introductionmentioning

confidence: 99%

Genomic landscape and mutational impacts of recurrently mutated genes in cancers

Liu

Zhang

et al. 2018

Molec Gen & Gen Med

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“…It is remarkable that their scoring systems, based on a few simple clinical and biological parameters defined more than 30 years ago, are still valid and have not been supplanted by any of the “new” markers published after these princeps papers. Facing this plethora of markers, the current tendency is to search for simplicity . In that context, the Binet and Rai scoring systems are still the keystones of CLL staging at diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Normal serum protein electrophoresis and mutated IGHV genes detect very slowly evolving chronic lymphocytic leukemia patients

et al. 2018

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More than 35 years after the Binet classification, there is still a need for simple prognostic markers in chronic lymphocytic leukemia (CLL). Here, we studied the treatment‐free survival (TFS) impact of normal serum protein electrophoresis (SPE) at diagnosis. One hundred twelve patients with CLL were analyzed. The main prognostic factors (Binet stage; lymphocytosis; IGHV mutation status; TP53,SF3B1,NOTCH1, and BIRC3 mutations; and cytogenetic abnormalities) were studied. The frequencies of IGHV mutation status, cytogenetic abnormalities, and TP53,SF3B1,NOTCH1, and BIRC3 mutations were not significantly different between normal and abnormal SPE. Normal SPE was associated with Binet stage A, nonprogressive disease for 6 months, lymphocytosis below 30 G/L, and the absence of the IGHV3‐21 gene rearrangement which is associated with poor prognosis. The TFS of patients with normal SPE was significantly longer than that of patients with abnormal SPE (log‐rank test: P = 0.0015, with 51% untreated patients at 5.6 years and a perfect plateau afterward vs. a median TFS at 2.64 years for abnormal SPE with no plateau). Multivariate analysis using two different Cox models and bootstrapping showed that normal SPE was an independent good prognostic marker for either Binet stage, lymphocytosis, or IGHV mutation status. TFS was further increased when both normal SPE and mutated IGHV were present (log‐rank test: P = 0.008, median not reached, plateau at 5.6 years and 66% untreated patients). A comparison with other prognostic markers suggested that normal SPE could reflect slowly advancing CLL disease. Altogether, our results show that a combination of normal SPE and mutated IGHV genes defines a subgroup of patients with CLL who evolve very slowly and who might never need treatment.

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“…Regarding cytogenetic testings, IGH/CCND1 translocation is a reliable marker to diagnose MCL and the detection of IGH/BCL2 translocation helps establish the diagnosis of FL . BRAF V600E and MYD88 L265P mutations are highly specific markers, which could be used to support the diagnosis of HCL and LPL/WM, respectively . However, it is difficult to decipher some cases of MZL without spleen histology or lymph node histology.…”

Section: Discussionmentioning

confidence: 99%

“…In recent years, NOTCH2, KLF2, and PTPRD have been found to be recurrently mutated in SMZL or NZML . Among these mutations, KLF2 mutation is currently regarded as a novel molecular marker of diagnostic value . Incorporation of cytogenetic and molecular examinations into clinical diagnostic panel might improve the diagnosis of cases of MZL in the near future.…”

Section: Discussionmentioning

confidence: 99%

Spectrum and immunophenotyping of 653 patients with B‐cell chronic lymphoproliferative disorders in China: A single‐centre analysis

Miao

Cao

Sun

et al. 2017

Hematological Oncology

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The incidence of B-cell chronic lymphoproliferative disorders (B-CLPDs) is significantly lower in China than that in western countries. There have been studies involving small cohorts with conflicting results regarding the spectrum of B-CLPDs in China, and the types and immunophenotyping of B-CLPDs in China remain largely unexplored. We conducted a retrospective analysis of 653 cases of B-CLPDs seen in our centre from 2011 to 2015. Four-colour flow cytometry was used to determine the expression of each immunological marker, and the diagnostic values of the immunological markers were also investigated. Chronic lymphocytic leukaemia (CLL) was the most common type of B-CLPD, which was consistent with that in west countries. However, the proportions of CLL (55.9%), follicular lymphoma (2.6%), and hairy cell leukaemia (0.2%) were lower, while the proportion of lymphoplasmacytic lymphoma/WaldenstrÖm macroglobulinaemia (5.4%) was higher in China, as compared with western countries. With respect to immunophenotypic characteristics, CD23 (31.7%) was more frequently expressed in mantle cell lymphoma (MCL) in our cohort than that in western countries. Immunophenotyping was useful in differentiating MCL from CLL or B-cell prolymphocytic leukaemia and lymphoplasmacytic lymphoma/WaldenstrÖm macroglobulinaemia from splenic marginal zone lymphoma. CD200 was of better diagnostic performance (accuracy: 94.6%) in differentiating CLL from MCL compared with CD23 (accuracy: 93.3%). Some cases of B-CPLDs, however, had no definite diagnoses, which were diagnosed as CD5 B-CPLDs unclassified (7.7%) and CD5 B-CPLDs unclassified (15.8%). This is the largest study that systematically explores the spectrum and immunophenotyping of B-CLPDs in Asia, confirming that spectrum of B-CLPDs in China was different from that in western countries. The immunophenotypic features of B-CLPDs were similar between China and western countries, although a few disparities exist. Cases with no definite diagnoses warrant further studies in the future.

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Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond

Cited by 42 publications

References 107 publications

Genomic landscape and mutational impacts of recurrently mutated genes in cancers

Genomic landscape and mutational impacts of recurrently mutated genes in cancers

Normal serum protein electrophoresis and mutated IGHV genes detect very slowly evolving chronic lymphocytic leukemia patients

Spectrum and immunophenotyping of 653 patients with B‐cell chronic lymphoproliferative disorders in China: A single‐centre analysis

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