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1.
Appl Immunohistochem Mol Morphol ; 29(8): 599-605, 2021 09 01.
Article in English | MEDLINE | ID: mdl-33624983

ABSTRACT

Carney triad is a multitumor syndrome affecting almost exclusively young women in a nonfamilial setting, which manifests by multifocal gastric gastrointestinal stromal tumors, paragangliomas, and pulmonary chondroma. The Carney triad-associated tumors are characterized by a deficiency of the mitochondrial succinate dehydrogenase enzymatic complex. Recently, it has been observed that the deficiency results from epigenetic silencing of the SDHC gene by its promoter hypermethylation. To elucidate anatomic distribution of SDHC promoter methylation in Carney triad patients and thus to shed some light on the possible natural development of this epigenetic change, both neoplastic and available non-neoplastic tissues of 3 patients with Carney triad were tested for hypermethylation at the SDHC promoter site. SDHC promoter hypermethylation was proven in all tumors studied. Lack of SDHC epigenetic silencing in the non-neoplastic lymphoid and duodenal tissue (ie, tissues not involved in the development of Carney triad-associated tumors) together with the finding of SDHC promoter hypermethylation in the non-neoplastic gastric wall favors the hypothesis of postzygotic somatic mosaicism as the biological background of Carney triad; it also offers an explanation of the multifocality of gastrointestinal stromal tumors of the stomach occurring in this scenario as well. However, the precise mechanism responsible for the peculiar organ-specific distribution of Carney triad-associated tumors is still unknown.


Subject(s)
Chondroma , DNA Methylation , DNA, Neoplasm , Leiomyosarcoma , Lung Neoplasms , Membrane Proteins , Mosaicism , Neoplasm Proteins , Paraganglioma, Extra-Adrenal , Promoter Regions, Genetic , Stomach Neoplasms , Chondroma/genetics , Chondroma/metabolism , Chondroma/pathology , DNA, Neoplasm/genetics , DNA, Neoplasm/metabolism , Humans , Leiomyosarcoma/genetics , Leiomyosarcoma/metabolism , Leiomyosarcoma/pathology , Lung Neoplasms/genetics , Lung Neoplasms/metabolism , Lung Neoplasms/pathology , Membrane Proteins/genetics , Membrane Proteins/metabolism , Neoplasm Proteins/genetics , Neoplasm Proteins/metabolism , Paraganglioma, Extra-Adrenal/genetics , Paraganglioma, Extra-Adrenal/metabolism , Paraganglioma, Extra-Adrenal/pathology , Stomach Neoplasms/genetics , Stomach Neoplasms/metabolism , Stomach Neoplasms/pathology
2.
Ann Diagn Pathol ; 27: 48-56, 2017 Apr.
Article in English | MEDLINE | ID: mdl-28325361

ABSTRACT

Oncocytic papillary renal cell carcinoma (PRCC) is a distinct subtype of PRCC, listed as a possible new variant of PRCC in the 2016 WHO classification. It is composed of papillae aligned by large single-layered eosinophilic cells showing linearly arranged oncocytoma-like nuclei. We analyzed clinicopathologic, morphologic, immunohistochemical and molecular-genetic characteristics of 11 oncocytic PRCCs with prominent tumor lymphocytic infiltrate, morphologically resembling Warthin's tumor. The patients were predominantly males (8/11, 73%), with an average age of 59years (range 14-76), and a mean tumor size of 7cm (range 1-22cm). Tumors had the features of oncocytic PRCCs with focal pseudostratification in 8/11 cases and showed dense stromal inflammatory infiltration in all cases. Papillary growth pattern was predominant, comprising more than 60% of tumor volume. Tubular and solid components were present in 5 and 3 cases, respectively. Uniform immunohistochemical positivity was found for AMACR, PAX-8, MIA, vimentin, and OSCAR. Tumors were mostly negative for carboanhydrase 9, CD117, CK20, and TTF-1. Immunohistochemical stains for DNA mismatch repair proteins MLH1 and PMS2 were retained in all cases, while MSH2 and MSH6 were negative in 1 case. Tumor infiltrating lymphocytes (TILs) consisted of both B and T cells. Chromosomal copy number variation analysis showed great variability in 5 cases, ranging from a loss of one single chromosome to complex genome rearrangements. Only one case showed gains of chromosomes 7 and 17, among other aberrations. In 4 cases no numerical imbalance was found. Follow up data was available for 9 patients (median 47.6months, range 1-132). In 6 patients no lethal progression was noted, while 3 died of disease. In conclusion, Warthin-like PRCC is morphologically very close to oncocytic PRCC, from which it differs by the presence of dense lymphoid stroma. Chromosomal numerical aberration pattern of these tumors is variable; only one case showed gains of chromosomes 7 and 17. Warthin-like PRCC is a potentially aggressive tumor since a lethal outcome was recorded in 3/9 cases.


Subject(s)
Carcinoma, Papillary/pathology , Carcinoma, Renal Cell/genetics , Carcinoma, Renal Cell/pathology , Kidney Neoplasms/genetics , Kidney Neoplasms/pathology , Adenoma, Oxyphilic/genetics , Adenoma, Oxyphilic/pathology , Adolescent , Aged , Biomarkers, Tumor/analysis , Carcinoma, Papillary/genetics , Carcinoma, Renal Cell/diagnosis , DNA Copy Number Variations/genetics , Female , Genetic Predisposition to Disease , Genetic Testing/methods , Humans , Immunohistochemistry/methods , In Situ Hybridization, Fluorescence/methods , Kidney Neoplasms/diagnosis , Male , Middle Aged
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