Brother 36 yrs Positive personal - papillary history: thyroid cancer Head and Neck PGL (carotid body) Cousin 59 yrs diagnosed at the age -papillary of 39 bladder cancer Solis et al SDHB 15 42/F No ND Benign disease course? deletion Clin Genet [24] exon 1 11 relatives out of Mother’s 41 mutation sibling carriers in this 62 yrs large family -uterine -8 extra-adrenal adenocarcinoma PGLs Maternal aunt -3 PCCs 72 yrs -lung cancer Grandson et al SDHB 16 65/F No ND - demonstrated to Fam Cancer c.600G>T carry the familial [25] mutation Cousin Positive personal left para-aortal Fairchild history: neuroblastoma et al PGL (9 mo), DOD JAMA [26] 52 yrs extra-adrenal (metastatic RCC) maternal SDHB 17-18 60/M ND PGL (16 yrs) cousin 26yrs c.418G>T F Schimke 3 maternal cousins with liver Cousin et al (Siblings: 16 55 metastases (21 DOD (multifocal RCC) 26yrs f f 49) yrs) and a Am J Med m Genet A [27] multifocal RCC extra-adrenal PGLs (26 yrs) Vanharanta et al Am J Hum Mother 55yrs Genet [28] -malignant PGL of the heart Neumann et al - demonstrated to 28/M 19 ND JAMA [29] SDHB carry the familial DOD (6 yrs) c.79C>T mutation Charis Eng J Natl Cancer Extra-adrenal PGL Inst [30] (PGL of the heart) Vanharanta et al Sister SDHB 20 Am J Hum 26/M ND Positive personal 24yrs c.713_716delTCTC Genet [28] history: Alive after long follow-up
15 Solis et al Clin Genet [24] 42/F No SDHB exon 1 deletion ND Positive personal history: Head and Neck PGL (carotid body) diagnosed at the age of 39 11 relatives out of 41 mutation carriers in this large family -8 extra-adrenal PGLs -3 PCCs Brother 36 yrs - papillary thyroid cancer Cousin 59 yrs -papillary bladder cancer Mother’s sibling 62 yrs -uterine adenocarcinoma Maternal aunt 72 yrs -lung cancer Benign disease course? 16 et al Fam Cancer [25] 65/F No SDHB c.600G>T ND Grandson - demonstrated to carry the familial mutation 17-18 Fairchild et al JAMA [26] Schimke et al Am J Med Genet A [27] 60/M maternal cousin F 26yrs SDHB c.418G>T ND Positive personal history: PGL 52 yrs 3 maternal cousins (Siblings: f 16 f 55 m 49) extra-adrenal PGLs Cousin left para-aortal neuroblastoma (9 mo), extra-adrenal PGL (16 yrs) with liver metastases (21 yrs) and a multifocal RCC (26 yrs) DOD (metastatic RCC) Cousin DOD (multifocal RCC) 26yrs 19 Vanharanta et al Am J Hum Genet [28] Neumann et al JAMA [29] Charis Eng J Natl Cancer Inst [30] 28/M SDHB c.79C>T ND Mother 55yrs -malignant PGL of the heart - demonstrated to carry the familial mutation Extra-adrenal PGL (PGL of the heart) DOD (6 yrs) 20 Vanharanta et al Am J Hum Genet [28] 26/M Sister 24yrs SDHB c.713_716delTCTC ND Positive personal history: Alive after long follow-up
PAS_2014_05_30_GILL_AJSP-D-14-00284_SDC1.docx