Extra-adrenal PGL (intra-abdominal) Daughter - previous diagnosis of a malignant Pheo accounting et al for genetic et al screening Histopathology and [42] subsequent detection of Gill et al SDHB Disease free 48 58/F None Neg RCC in the c.72+1G>T 2 years Am J Surg mother Pathol [4] - Fleming et al to carry Histopathology the familial [37] mutation concurrently with her mother Gastric GIST None (+ metastasis) Gill et al SDHC Her sister/mother are 12/ 33 yrs 49 22/F None Neg Disease free (? Mo) Pathology [17] c.380A>G asymptomatic carriers of the Papillary familial mutation thyroid carcinoma 30 yrs Miettinen et al Not performed (SDHB 50 40/M None Neg None Adrenal Metastasis AIMM[43] negative by IHC)
Extra-adrenal PGL (intra-abdominal) 48 et al et al Histopathology [42] Gill et al Am J Surg Pathol [4] Fleming et al Histopathology [37] 58/F None SDHB c.72+1G>T Neg Daughter - previous diagnosis of a malignant Pheo accounting for genetic screening and subsequent detection of RCC in the mother - to carry the familial mutation concurrently with her mother Disease free 2 years 49 Gill et al Pathology [17] 22/F None SDHC c.380A>G Neg None Her sister/mother are asymptomatic carriers of the familial mutation Gastric GIST (+ metastasis) 12/ 33 yrs Papillary thyroid carcinoma 30 yrs Disease free (? Mo) 50 Miettinen et al AIMM[43] 40/M None Not performed (SDHB negative by IHC) Neg None Adrenal Metastasis
PAS_2014_05_30_GILL_AJSP-D-14-00284_SDC1.docx