Molecular cytogenetic evidence of t(14;18)(IGH;BCL2) in a substantial proportion of primary cutaneous follicle center lymphomas.
ABSTRACT In contrast to nodal follicular lymphoma, limited data exist on genetic changes in primary cutaneous follicular lymphoma (primary cutaneous follicle center lymphoma according to WHO-EORTC). The detection rate of the BCL2 rearrangement, representing the characteristic t(14;18)(q32;q21) underlying follicular lymphoma, by polymerase chain reaction (PCR) has been reported to vary over a wide range (0%-41%), and only a few cases have been studied by molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH). In this study, 27 primary cutaneous follicle center lymphomas were analyzed by FISH and the results compared with those obtained by PCR. FISH demonstrated translocations affecting the immunoglobulin heavy chain locus (IGH) in 14 of 27 cases (52%): a t(14;18)(q32;q21) involving BCL2 was found in 11 cases (41%), a t(3;14)(q27;q32) affecting BCL6 in 2 cases (7%), and in 1 case the partner gene of IGH could not be identified. Interestingly, PCR did not detect BCL2 rearrangement in any case. These data suggest that the t(14;18)(q32;q21) frequently occurs in primary cutaneous follicular lymphoma. The reason(s) why BCL2 rearrangements escape the detection by PCR is (are) not clear but could be due to BCL2 mutations, breakpoints outside the amplified DNA, or a high load of somatic mutations.
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ABSTRACT: Die 2008 aktualisierte WHO-Klassifikation der lymphatischen Neoplasien stellt einen weltweiten Konsensus über die Diagnose dieser Tumoren dar. Sie basiert auf einem multidisziplinären Ansatz zur Definition von eigenständigen Lymphomentitäten. Bekannte Lymphomkrankheiten wurden genauer definiert, neue Entitäten identifiziert sowie neue Konzepte und Erkenntnisse, die zu einem besseren Verständnis der malignen Lymphome beitragen, integriert. Eine Reihe von Fragen blieben allerdings ungelöst. Zu diesen gehörten insbesondere die Frage, welcher Grad genetischer oder molekularer Veränderungen für die Definition einer eigenständigen Lymphomentität notwendig ist und der Status der provisorischen Entitäten. In der Zeit nach der Veröffentlichung der WHO-Klassifikation von 2008 gab es eine Reihe neuer wissenschaftlicher Beobachtungen. Außerdem wurden neue Konzepte zum Verständnis der malignen Lymphome entwickelt. Dieser Fortschritt ist der Schwerpunkt nach folgender Übersicht, soweit er Einfluss auf die diagnostischen Kriterien hat.Der Onkologe 01/2011; 17(9). DOI:10.1007/s00761-011-2126-5 · 0.13 Impact Factor
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ABSTRACT: The t(14;18)(q32;q21) chromosomal translocation is found in the majority of nodal follicular lymphomas but only rarely in primary cutaneous follicle center cell lymphomas (PCFCL). Recent studies have postulated that the translocation is more prevalent in PCFCL than previously described and that it might be a molecular prognostic marker. The purpose of our study was to analyze cases of PCFCL for the presence of a t(14;18) translocation using fluorescence in situ hybridization to detect balanced translocations involving either the BCL2 or MALT1 loci and to correlate the results with growth pattern, immunophenotype, and clinical outcome. In all, 57 patients with PCFCL were extracted from our cutaneous lymphoma database. Retrospective analysis of clinical parameters including lesion type, location, diagnostic stage, lactate dehydrogenase, initial treatment, relapse rate, and survival was performed. In all, 57 patients with PCFCL were included in this study. We detected 1 BCL2 chromosomal amplification, 4 translocations of BCL2, and 1 IGH/MALT1 translocation. This was a case series retrospective study. PCFCL has an excellent 5-year overall survival (100% disease-specific survival). Chromosomal abnormalities of either BCL2 or MALT1 were detected in 10% of cases but do not correlate with a specific immune pathology or clinical outcome.Journal of the American Academy of Dermatology 03/2014; 70(6). DOI:10.1016/j.jaad.2014.01.862 · 5.00 Impact Factor
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ABSTRACT: Dermatopathology, a sub-speciality of Pathology, dramatically evolved these last years, especially because of the development of molecular techniques suitable on tissue sections. Following the “boom” of immuno-histochemistry during the 90s, techniques allowing the in situ staining of nucleic acids have a lot progressed in the last ten years (in situ hybridization techniques), together with the molecular biology techniques applied to fresh, frozen and even formalin fixed and paraffin embedded tissues. These techniques allowed the development of numerous diagnostic tools in practical dermatopathology, which is today more than ever an evolving field. But more than the quality control procedures, the development of new immuno-histochemical markers and the description of new entities through skin biopsies analysis, that all contributed to the development of Dermatopathology, the most striking progresses are probably those that were made in the molecular characterization of skin cancers. For example, the management of cutaneous melanoma has evolved, with new useful molecular markers for the diagnosis and the treatment. The analysis by multicolor FISH of the CCND1, MYB1, RREB1 genes and of the chromosome 6 centromere is now accepted as a new diagnostic tool for the diagnosis of morphologically ambiguous tumors, and many laboratories have developed techniques allowing to characterize the activating mutations of the BRAF and KIT oncogenes, carried by a proportion of cutaneous melanomas, allowing the indication of newly developed targeted therapies. But the story shows that a new technique almost never replaces the previous ones. Especially, it is important to keep in mind that the dermatopathology begins with the morphology and the clinical-pathological confrontation, the cornerstones of our speciality.Revue Francophone des Laboratoires 01/2012; 2012(438):35–46. DOI:10.1016/S1773-035X(12)71253-4