The genomic basis of cutaneous T-cell lymphoma (CTCL) has been characterized by gene copy number alterations and sequencing, but there are few clinical tests that widely being used to inform the diagnosis prognosis leukemic CTCL (L-CTCL) may arise as a progression from mycosis fungoides or de novo Sézary syndrome. An 11-gene fluorescent in situ hybridization (FISH) panel TP53, RB1, DNMT3A, FAS,...

Abstract BTFC travel award recipient In meningiomas, CDKN2A/B deletions are associated with poor clinical outcomes but exceeding rare in most cohorts (1-5% of cases). Large molecular datasets therefore required to explore these and their relationship other CDKN2A alterations that may be more common, also prognostic on a transcriptomic, epigenomic, and/or copy number level. METHODS: We used mult...

The case of a young female patient with metachronous primary melanomas, advanced breast and pancreatic cancers is reported. The 5 different tumors diagnosed within six years, were managed with curative intent. Genetic analysis revealed the mutation of the R24P CDKN2A gene in a heterozygote form in both the patient and her father. Careful tertiary prevention during the follow-up of the patient i...

The p16(INK4A)/CDKN2A tumor suppressor gene is known to be inactivated in up to 98% of human pancreatic cancer specimens and represents a potential target for novel therapeutic intervention. Chemically induced pancreatic tumors in Syrian golden hamsters have been demonstrated to share many morphologic and biological similarities with human pancreatic tumors and this model may be appropriate for...

OBJECTIVE To investigate the expression variation of RAR-β2, RASSF1A, and CDKN2A gene in the process of nickel-induced carcinogenesis. METHODS Nickel subsulfide (Ni(3)S(2)) at dose of 10 mg was given to Wistar rats by intramuscular injection. The mRNA expression of the three genes in induced tumors and their lung metastasis were examined by Real-time PCR. The methylation status of the 5' regi...

Results We found common polymorphic variants reported in the literature at codon 148 in exon 2 (Arg148Thr) and at nucleotides 500 and 540 in the 3’untranslated region which were not considered to be functional variants. We compared the obtained frequencies for the particular CDKN2A variants with the control group for the Polish population examined by Debniak and colleagues (Cancer Research 2005...

CONTEXT PTEN, a tumour suppressor gene located on chromosome 10q23, develops somatic mutations in various tumours and tumour cell lines including brain, endometrium, prostate, breast, kidney, thyroid, liver, and melanoma. OBJECTIVES To investigate the mutational profile of this gene further, as well as its role in tumour progression in melanoma. DESIGN, SETTINGS: We examined 21 metastatic mel...

Translocations involving the immunoglobulin heavy chain locus (IGH@) at chromosome band 14q32 are common in mature B-cell neoplasms, but are rare in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Here, we report the translocation, t(6;14)(p22;q32), involving IGH@ as a novel recurrent translocation in 13 BCP-ALL patients. Fluorescence in situ hybridization and long-distance inverse pol...

Hypermethylation of tumor suppressor and other regulatory genes is thought to play an important role in colorectal neoplasia and tumorigenesis. This study examined the association between gene methylation status in baseline adenomas and subsequent adenoma recurrence in a randomized dietary intervention study, the Polyp Prevention Trial. The methylation status of four genes [CDKN2A (p16), PTGS2 ...

BACKGROUND Inherited risk of pancreatic cancer has been associated with mutations in several genes, including BRCA2, CDKN2A (p16), PRSS1, and PALB2. We hypothesized that common variants in these genes, single nucleotide polymorphisms (SNP), may also influence risk for pancreatic cancer development. METHODS A clinic-based case-control study in non-Hispanic white persons compared 1,143 patients...