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.
"Disparate results regarding the presence of t(14;18)(q32;21) have been reported and appear to be related, at least in part, to the analytic technique employed. Studies that have used PCR-based approaches have demonstrated the presence of the t(14;18)(q32;21) in 0 to 41% of cases, whereas studies using FISH report a prevalence of 0–51% [54–56]. Multiple variables complicate interpretation of these disparate results, including differing PCR strategies, potential inclusion of secondary cutaneous follicular lymphoma samples, and geographic variability. "
[Show abstract][Hide abstract] ABSTRACT: Primary cutaneous lymphomas can be difficult to be distinguished from reactive mimics, even when integrating histologic, immunophenotypic, and clinical findings. Molecular studies, especially PCR-based antigen receptor gene rearrangement (ARGR) analysis, are frequently useful ancillary studies in the evaluation of cutaneous lymphoproliferations. The biologic basis of ARGR studies is discussed, as well as a comparison of various current protocols. The pitfalls and limitations of ARGR analysis are also highlighted. Recent advances in the understanding of the molecular pathogenesis of various cutaneous lymphomas are discussed. Some of these nascent discoveries may lead to the development of diagnostically useful molecular assays.
"The experiments were approved by the 'Committee of Animal Protection of the Austrian Ministry of Sciences' and performed according to Austrian regulations, which agree with the criteria outlined in the 'UKCCCR Guidelines for the Welfare of Animals in Experimental Neoplasia' in 1998. Karyotyping, fluorescence in situ hybridisation (FISH) and comparative genomic hybridisation (CGH) of the cell lines were performed as described previously (Raidl et al, 2004; Streubel et al, 2006). "
[Show abstract][Hide abstract] ABSTRACT: To enable detailed analyses of cell interactions in tumour development, new epithelial and mesenchymal cell lines were established from human hepatocellular carcinoma by spontaneous outgrowth in culture. We obtained several hepatocarcinoma (HCC)-, B-lymphoblastoid (BLC)-, and myofibroblastoid (MF)-lines from seven cases. In-depth characterisation included cell kinetics, genotype, tumourigenicity, expression of cell-type specific markers, and proteome patterns. Many functions of the cells of origin were found to be preserved. We studied the impact of the mesenchymal lines on hepatocarcinogenesis by in vitro assays. BLC- and MF-supernatants strongly increased the DNA replication of premalignant hepatocytes. The stimulation by MF-lines was mainly attributed to HGF secretion. In HCC-cells, MF-supernatant had only minor effects on cell growth but enhanced migration. MF-lines also stimulated neoangiogenesis through vEGF release. BLC-supernatant dramatically induced death of HCC-cells, which could be largely abrogated by preincubating the supernatant with TNFbeta-antiserum. Thus, the new cell lines reveal stage-specific stimulatory and inhibitory interactions between mesenchymal and epithelial tumour cells. In conclusion, the new cell lines provide unique tools to analyse essential components of the complex interplay between the microenvironment and the developing liver cancer, and to identify factors affecting proliferation, migration and death of tumour cells, neoangiogenesis, and outgrowth of additional malignancy.
British Journal of Cancer 08/2008; 99(1):151-9. DOI:10.1038/sj.bjc.6604440 · 4.84 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Skin tumors can arise as a result of cumulative genetic abnormalities, including chromosomal aberrations that can be described
as either morphological (structural rearrangements) or molecular (copy number variations). Cytogenetic techniques have been
used to examine both large and small chromosomal aberrations, and include karyotyping, comparative genomic hybridization,
and fluorescence in situ hybridization. This chapter describes the recurrent aberrations associated with skin tumors, such
as benign melanocytic nevi, melanoma, basal cell carcinoma, squamous cell carcinoma, actinic (solar) keratosis, Bowen’s disease,
keratoacanthoma, Merkel cell carcinoma, dermatofibrosarcoma protuberans, and cutaneous lymphomas, as detected by cytogenetic
methodologies. A significant number of genomic aberrations are shared across different subtypes of skin tumors, including
structural and numerical alterations of chromosome 1, −3p, +3q, +6, +7, +8q, −9p, +9q, −10, −17p, +17q and +20. Aberrations
specific to certain skin cancers have also been detected, and include: loss of 18q in squamous cell carcinoma, but not its
precursor, actinic keratosis; loss of 9q22 in sporadic basal cell carcinoma; and translocation involving 17q22 and 22q13 in
dermatofibrosarcoma protuberans. These regions contain a number of potential candidate genes that are involved in aspects
of cell signaling, proliferation, differentiation, and apoptosis. Cytogenetic methodologies continue to evolve with the advent
of array-based comparative genomic hybridization, copy number variation microarrays, and next-generation sequencing. It is
envisioned that cytogenetic analysis will continue to be employed for identification and further exploration of novel chromosomal
regions and associated genes that drive skin tumorigenesis.
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