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Cryptic Insertions Of The Immunoglobulin Light Chain Enhancer Region Near CCND1 In T(11;14)-Negative Mantle Cell Lymphoma
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Cyclin D1+ mantle cell lymphoma (MCL) is molecularly characterized by the
t(11;14)(q13;q32) or rearrangements of CCND1 gene with the immunoglobulin (IG)
light chains.1,2 Most MCL can be diagnosed based on the characteristic pathologic
features and cyclin D1 expression without the need for demonstrating the genetic
translocation. However, in cases with atypical morphologic or phenotypic features
other B-cell neoplasms that sometimes also have cyclin D1 positivity may be in the
differential diagnosis.1
In these situations the detection of the CCND1 rearrangements
may assist in the diagnosis since most other lymphomas do not carry translocations of
the gene.3-7 A subset of plasma cell myelomas express cyclin D1 associated with the
t(11;14) but are usually not in the differential diagnosis of MCL and are SOX11-
negative.5
Nevertheless, there are occasional lymphoid neoplasms with MCL features
in which cyclin D1 is strongly expressed without an apparent gene rearrangement
using conventional cytogenetics or fluorescence in situ hybridization (FISH) with fusion
or break-apart probes. The mechanisms of cyclin D1 overexpression in these cases are
unclear and the MCL diagnosis may be questioned.
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FUSTER, Carla, MARTÍN GARCÍA, David, BALAGUÉ, Olga, NAVARRO, Alba, NADEU PRAT, Ferran, COSTA, Dolors, PRIETO, Miriam, SALAVERRIA FRIGOLA, Itziar, ESPINET SOLÀ, Blanca, RIVAS DELGADO, Alfredo, TEROL, Maria josé, GINÉ SOCA, Eva, FORCADA, Pilar, ASHTON-KEY, Margaret, PUENTE, Xose s., SWERDLOW, Steven h., BEÀ BOBET, Sílvia m., CAMPO GÜERRI, Elias. Cryptic Insertions Of The Immunoglobulin Light Chain Enhancer Region Near CCND1 In T(11;14)-Negative Mantle Cell Lymphoma. _Haematologica_. 2019. [consulta: 7 de gener de 2026]. ISSN: 0390-6078. [Disponible a: https://hdl.handle.net/2445/151846]