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Recurrent mutations of NOTCH genes in follicular lymphoma identify a distinctive subset of tumours
The Journal of pathology, 2014-11, Vol.234 (3), p.423-430
Karube, Kennosuke
Martínez, Daniel
Royo, Cristina
Navarro, Alba
Pinyol, Magda
Cazorla, Maite
Castillo, Paola
Valera, Alexandra
Carrió, Anna
Costa, Dolors
Colomer, Dolors
Rosenwald, Andreas
Ott, German
Esteban, Daniel
Giné, Eva
López-Guillermo, Armando
Campo, Elias
2014
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Karube, Kennosuke
Martínez, Daniel
Royo, Cristina
Navarro, Alba
Pinyol, Magda
Cazorla, Maite
Castillo, Paola
Valera, Alexandra
Carrió, Anna
Costa, Dolors
Colomer, Dolors
Rosenwald, Andreas
Ott, German
Esteban, Daniel
Giné, Eva
López-Guillermo, Armando
Campo, Elias
Titel
Recurrent mutations of NOTCH genes in follicular lymphoma identify a distinctive subset of tumours
Ist Teil von
The Journal of pathology, 2014-11, Vol.234 (3), p.423-430
Ort / Verlag
Chichester, UK: John Wiley & Sons, Ltd
Erscheinungsjahr
2014
Quelle
Wiley Online Library - AutoHoldings Journals
Beschreibungen/Notizen
Follicular lymphoma (FL) is one of the most common malignant lymphomas. The t(14;18)(q32;q21) translocation is found in about 80% of cases and plays an important role in lymphomagenesis. However, the molecular mechanisms involved in the development and transformation of this lymphoma are not fully understood. Gain‐of‐function mutations of NOTCH1 or NOTCH2 have recently been reported in several B cell lymphoid neoplasms but the role of these mutations in FL is not known. In this study we investigated the mutational status of these genes in 112 FLs. NOTCH1 and NOTCH2 mutations were identified in five and two cases, respectively (total 7/112, 6.3%). All mutations predicted for truncated protein in the PEST domain and were identical to those identified in other B cell lymphoid neoplasms. NOTCH‐mutated FL cases were characterized by lower frequency of t(14;18) (14% versus 69%, p = 0.01), higher incidence of splenic involvement (71% versus 25%, p = 0.02) and female predominance (100% versus 55%, p = 0.04). A diffuse large B cell lymphoma (DLBCL) component was more frequently identified in NOTCH‐mutated FL than in wild‐type cases (57% versus 18%, p = 0.03). These results indicate that NOTCH mutations are uncommon in FL but may occur in a subset of cases with distinctive, characteristic, clinicopathological features. Copyright © 2014 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Sprache
Englisch
Identifikatoren
ISSN: 0022-3417
eISSN: 1096-9896
DOI: 10.1002/path.4428
Titel-ID: cdi_proquest_miscellaneous_1618158845
Format
–
Schlagworte
Adult
,
Aged
,
DNA Mutational Analysis
,
Female
,
follicular lymphoma
,
Humans
,
Immunohistochemistry
,
In Situ Hybridization, Fluorescence
,
Lymphoma, Follicular - genetics
,
Lymphoma, Follicular - pathology
,
Lymphoma, Large B-Cell, Diffuse - genetics
,
Lymphoma, Large B-Cell, Diffuse - pathology
,
Middle Aged
,
Mutation
,
NOTCH1
,
NOTCH2
,
Receptor, Notch1 - genetics
,
Receptor, Notch2 - genetics
,
Reverse Transcriptase Polymerase Chain Reaction
,
spleen
,
transformation
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