Paraganglioma 34yrs - this diagnosis was sequential to the respective one of Neumann et al RCC JAMA [29] Sister Charis Eng -paraganglioma, J Natl Cancer which along with Inst [30] both renal tumors displayed somatic loss of the remaining wild type allele Vanharanta et al Positive personal Am J Hum history: Genet [28] Paraganglioma 16yrs Neumann et al SDHB 21 24/F Brother ND Brother DOD (1y 4 months) [29] c.713_716delTCTC JAMA -paraganglioma, which did not show Charis Eng somatic loss of the J Natl Cancer remaining wild-type Inst [30] allele (24 mo) AWD Metastatic disease Srirangalingam -12 mo following surgical et al resection (pelvic and Clin Positive personal supraclavicular R lymph node Endocrinol history:: mass) (Oxf) [31] Extra-adrenal PGL -15 mo following surgical SDHB 22 26/F ND 10yrs resection Srirangalingam c.141G>A (evidence of progression within et al Family History the right supraclavicular lymph Endocr Relat Negative nodes, partial metastatic Cancer [32] destruction of the right scapula and new splenic metastasis) et al [33] partial response to the multi-ta rget tyrosine kinase inhibitor sunitinib Ricketts et al 23-25 J Natl Cancer 24/M Father 24yrs SDHB ND None … Inst [34] c.136C>T
Neumann et al JAMA [29] Charis Eng J Natl Cancer Inst [30] Paraganglioma 34yrs - this diagnosis was sequential to the respective one of RCC Sister -paraganglioma, which along with both renal tumors displayed somatic loss of the remaining wild type allele 21 Vanharanta et al Am J Hum Genet [28] Neumann et al JAMA [29] Charis Eng J Natl Cancer Inst [30] 24/F Brother SDHB c.713_716delTCTC ND Positive personal history: Paraganglioma 16yrs Brother -paraganglioma, which did not show somatic loss of the remaining wild-type allele DOD (1y 4 months) 22 Srirangalingam et al Clin Endocrinol (Oxf) [31] Srirangalingam et al Endocr Relat Cancer [32] et al [33] 26/F SDHB c.141G>A ND Positive personal history:: Extra-adrenal PGL 10yrs Family History Negative AWD (24 mo) Metastatic disease -12 mo following surgical resection (pelvic and supraclavicular R lymph node mass) -15 mo following surgical resection (evidence of progression within the right supraclavicular lymph nodes, partial metastatic destruction of the right scapula and new splenic metastasis) partial response to the multi-ta rget tyrosine kinase inhibitor sunitinib 23-25 Ricketts et al J Natl Cancer Inst [34] 24/M Father 24yrs SDHB c.136C>T ND None …
PAS_2014_05_30_GILL_AJSP-D-14-00284_SDC1.docx