martes, 4 de julio de 2017

Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®)—Health Professional Version - National Cancer Institute

Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®)—Health Professional Version - National Cancer Institute
National Cancer Institute

Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®)–Health Professional Version


Changes to This Summary (06/28/2017)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.
Revised text to state that specific cutaneous hamartomas of the skin that are characteristic of BHD are also referred to as trichodiscomas.
Added Bottaro et al. as reference 6.
Revised text to state that all germline MET pathogenic variants in HPRC reported to date are missense variants in the tyrosine kinase domain, leading to constitutive activation of the MET kinase, and driving the development of papillary renal cell cancer (RCC) (cited Miller et al. as reference 12).
Revised text to state that renal tumors from HPRC-affected patients also commonly show polysomy of chromosome 7 upon cytogenetic analysis. Polysomy 7 in the HPRC renal tumor tissue results from nonrandom duplication of the chromosome bearing the wild-type allele. Approximately 15% to 20% of sporadic type 1 papillary RCCs have somatic MET missense variants (cited Linehan et al. and Pal et al. as references 14 and 15, respectively).
Added text to state that incipient microscopic lesions, including adenomas and papillary lesions, are commonly found in the adjacent renal parenchyma. Also added text to state that these pathologic findings should raise suspicion for a germline variant in the METgene. Also revised text to state that in HPRC, type 1 papillary RCC histology is often well differentiated/low grade, but higher-grade tumors can also be observed.
Revised text to state that it is recommended that patients with known HPRC undergo regular surveillance. Papillary RCCs, particularly type 1 variants, possess specific imaging characteristics that differ from clear cell RCCs.
Added text to state that magnetic resonance imaging is typically recommended as an imaging modality to minimize the lifetime dose of radiation.
The MET genetic testing subsection was extensively revised.
The Future Directions subsection was extensively revised.
This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.
  • Updated: June 28, 2017

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