Positive personal history: Head and Neck PGL Malinoc et al Neg/ 33 68/ F No SDHC 42yrs Endocr Relat Pos c.3G>A Cancer [39] Son Head and Neck PGL Cousin (F) Disease free (240.8 mo) 4 cousins (f carrier of the siblings 44 52 Cousin M DOD (133.5 mo) familial mutation 53/68** and a Cousin F Disease free (62.0 Ricketts et al male 46 yrs) that did not develop 34-36 49/F SDHC ND mo) J Urol [22] RCC c.397C>T Cousin F** AWD (54.8) Nephew 40 yrs Cousin F Dead of other cause carrier of the HN PGL (182.7 mo) familial Nephew Disease free (12.3 mo) mutation (carotid PGL?) Positive personal history: PGL 17,21,28,31,45,45yrs Extensive family DOD (18.7 mo) history of CBTs Ricketts et al (osseous, lung and 37 45/ M None SDHD ND (paternal retroperitoneal metastatic J Urol [22] c.239G>T grandfather, disease) father, paternal uncle and two aunts) Brother Pheo
33 Malinoc et al Endocr Relat Cancer [39] 68/ F No SDHC c.3G>A Neg/ Pos Positive personal history: Head and Neck PGL 42yrs Son Head and Neck PGL 34-36 Ricketts et al J Urol [22] 49/F 4 cousins (f siblings 44 52 53/68** and a male 46 yrs) Nephew 40 yrs carrier of the familial mutation SDHC c.397C>T ND Cousin (F) carrier of the familial mutation that did not develop RCC HN PGL (carotid PGL?) Disease free (240.8 mo) Cousin M DOD (133.5 mo) Cousin F Disease free (62.0 mo) Cousin F** AWD (54.8) Cousin F Dead of other cause (182.7 mo) Nephew Disease free (12.3 mo) 37 Ricketts et al J Urol [22] 45/ M None SDHD c.239G>T ND Positive personal history: PGL 17,21,28,31,45,45yrs Extensive family history of CBTs (paternal grandfather, father, paternal uncle and two aunts) Brother Pheo DOD (18.7 mo) (osseous, lung and retroperitoneal metastatic disease)
PAS_2014_05_30_GILL_AJSP-D-14-00284_SDC1.docx