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Primary Renal Paragangliomas and Renal Neoplasia Associated with Pheochromocytoma/Paraganglioma: Analysis of von Hippel–Lindau (VHL), Succinate Dehydrogenase (SDHX) and Transmembrane Protein 127 (TMEM127)
- Source :
- Endocrine Pathology. 28:253-268
- Publication Year :
- 2017
- Publisher :
- Springer Science and Business Media LLC, 2017.
-
Abstract
- Alterations of von Hippel-Lindau (VHL), succinate dehydrogenase (SDHX), and TMEM127 have been associated with the development of pheochromocytomas (PCs) and paragangliomas (PGLs) and are also associated with the development of renal neoplasms. This study involved 2 primary renal PGL and 12 cases of PC/PGL with associated renal neoplasia with a mean follow up of 74 months. Germline VHL and SDHX mutation status was obtained from the medical record. Immunohistochemistry for SDHB and mutation analysis for TMEM127 was performed, in addition to analysis of The Cancer Genome Atlas datasets for SDHX and TMEM127 mutated renal cell carcinomas (RCCs). The spectrum of renal neoplasia included clear cell and tubulocystic and papillary RCC, as well as a case of multiple papillary adenomas. Three patients had metastatic PC/PGL and three patients had VHL syndrome. Previously unreported TMEM127 alterations were identified in two patients, both without evidence of VHL syndrome or SDH-deficiency, and were classified as variants of uncertain significance. Primary renal PGL and neoplasia was associated with about 2% of 710 cases of PC/PGL. These were diagnosed concurrently or on average 27 months prior to the PC/PGL, and most were low-grade, low-stage clear cell RCCs. Up to half of patients with PC/PGL and renal neoplasia had VHL syndrome, SDH deficiency, or alterations in TMEM127. One (of three) case of metastatic PC/PGL had SDHB mutation and loss of SDHB by immunohistochemistry. The other two cases had retained SDHB expression.
- Subjects :
- Adult
Male
0301 basic medicine
Pathology
medicine.medical_specialty
SDHB
Endocrinology, Diabetes and Metabolism
DNA Mutational Analysis
Adrenal Gland Neoplasms
SDHA
Pheochromocytoma
Biology
urologic and male genital diseases
Pathology and Forensic Medicine
Renal neoplasm
Paraganglioma
Young Adult
03 medical and health sciences
0302 clinical medicine
Endocrinology
Renal cell carcinoma
medicine
Humans
Germ-Line Mutation
Aged
Membrane Proteins
General Medicine
Middle Aged
medicine.disease
Kidney Neoplasms
female genital diseases and pregnancy complications
Succinate Dehydrogenase
030104 developmental biology
Von Hippel-Lindau Tumor Suppressor Protein
030220 oncology & carcinogenesis
Female
SDHD
Clear cell
Subjects
Details
- ISSN :
- 15590097 and 10463976
- Volume :
- 28
- Database :
- OpenAIRE
- Journal :
- Endocrine Pathology
- Accession number :
- edsair.doi.dedup.....8e0a624c65dafc75506d54afe89a420d