Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review | Zendy

Ruth Casey | Zendy; Anne Y. Warren | Zendy; José-Ezequiel Martín | Zendy; Benjamin Challis | Zendy; Eleanor Rattenberry | Zendy; James Whitworth | Zendy; Katrina Andrews | Zendy; Thomas M. Roberts | Zendy; Graeme R. Clark | Zendy; Hannah D. West | Zendy; Philip Smith | Zendy; France Docquier | Zendy; Fay Rodger | Zendy; Vicki Rangitautehanga Murray | Zendy; Helen Simpson | Zendy; Yvonne Wallis | Zendy; Olivier Giger | Zendy; Maxine Tran | Zendy; Susan Tomkins | Zendy; Grant D. Stewart | Zendy; SooMi Park | Zendy; Emma R. Woodward | Zendy; Eamonn R. Maher | Zendy

Open Access

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review

Author(s) -

Ruth Casey,

Anne Y. Warren,

José-Ezequiel Martín,

Benjamin Challis,

Eleanor Rattenberry,

James Whitworth,

Katrina Andrews,

Thomas M. Roberts,

Graeme R. Clark,

Hannah D. West,

Philip Smith,

France Docquier,

Fay Rodger,

Vicki Rangitautehanga Murray,

Helen Simpson,

Yvonne Wallis,

Olivier Giger,

Maxine Tran,

Susan Tomkins,

Grant D. Stewart,

SooMi Park,

Emma R. Woodward,

Eamonn R. Maher

Publication year - 2017

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2017-00562

Subject(s) - sdhb , paraganglioma , sdhd , pheochromocytoma , germline mutation , von hippel–lindau disease , medicine , renal cell carcinoma , pathology , disease , mutation , biology , genetics , gene

The co-occurrence of pheochromocytoma (PC) and renal tumors was linked to the inherited familial cancer syndrome von Hippel-Lindau (VHL) disease more than six decades ago. Subsequently, other shared genetic causes of predisposition to renal tumors and to PC, paraganglioma (PGL), or head and neck paraganglioma (HNPGL) have been described, but case series of non-VHL-related cases of renal tumor and pheochromocytoma/paraganglioma tumor association syndrome (RAPTAS) are rare.

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