期刊
BLOOD
卷 132, 期 4, 页码 413-422出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2018-03-838136
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资金
- Spanish Ministerio de Economia y Competitividad [SAF2015-64885-R]
- National Institutes of Health National Cancer Institute Strategic Partnering to Evaluate Cancer Signatures grant [5U01CA157581-05]
- Generalitat de Catalunya Suport Grups de Recerca Agencia de Gestio d'Ajuts Universitaris i de Recerca (AGAUR) [2017-SGR-1142, 2014-SGR-378]
- Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III [PI14/00571, PI17/01061]
- Fundacio La Marato de TV3 [TV3-Cancer/2013410]
- European Regional Development Fund Una manera de fer Europa
- Centres de Recerca de Catalunya (CERCA) Programme/Generalitat de Catalunya
- Centro Nacional de Genotipado-PRB2-Instituto de Salud Carlos III (CGEN-PRB2-ISCIII) (Instituto de Salud Carlos III-Subdireccion General de Evaluacion y Fomento de la Investigacion-Fondo Europeo de Desarrollo Regional ISCIII-SGEFI/FEDER) [PTI3/0001]
Mantle cell lymphoma (MCL) is an aggressive B-cell malignancy, but some patients have a very indolent evolution. This heterogeneous course is related, in part, to the different biological characteristics of conventional MCL (cMCL) and the distinct subgroup of leukemic nonnodal MCL (nnMCL). Robust criteria to distinguish these MCL subtypes and additional biological parameters that influence their evolution are not well defined. We describe a novel molecular assay that reliably distinguishes cMCL and nnMCL using blood samples. We trained a 16-gene assay (L-MCL16 assay) on the NanoString platform using 19 purified leukemic samples. The locked assay was applied to an independent cohort of 70 MCL patients with leukemic presentation. The assay assigned 37% of cases to nnMCL and 56% to cMCL. nnMCL and cMCL differed in nodal presentation, lactate dehydrogenase, immunoglobulin heavy chain gene mutational status, management options, genomic complexity, and CDKN2A/ATM deletions, but the proportion with 17p/TP53 aberrations was similar in both subgroups. Sequential samples showed that assay prediction was stable over time. nnMCL had a better overall survival (OS) than cMCL (3-year OS 92% vs 69%; P = .006) from the time of diagnosis and longer time to first treatment. Genomic complexity and TP53/CDKN2A aberrations predicted for shorter OS in the entire series and cMCL, whereas only genomic complexity was associated with shorter time to first treatment and OS in nnMCL. In conclusion, the newly developed assay robustly recognizes the 2 molecular subtypes of MCL in leukemic samples. Its combination with genetic alterations improves the prognostic evaluation and may provide useful biological information for management decisions.
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