Synchronous Am J Surg tumors also showed familial Pathol [4] negative staining for mutation SDHB 43,45 yrs Mother -subsequently demonstrated to carry the familial Gill et al mutation N Engl J Med -metachronous [12] tumors showed 46 21/F None SDHB Neg Disease free (7 years) SDHB Gill et al c.268C>T immunonegativity Am J Surg Pathol [4] Multiple HN PGLs carotid body (R) PGL (43yrs); jugular (L) PGL and vagal (L) PGL (45 yrs) Nephew 19yrs subsequently demonstrated to carry the familial mutation Extra-adrenal Gill et al PGL N Engl J Med Brother 44yrs (intra-abdominal/ [12] SDHB: metastatic) DOD (1 year) 47 22/M None Neg SDH deficient c.423+1G>A progressive metastatic disease Gill et al GIST Am J Surg Brother 44yrs Pathol [4] -subsequently demonstrated to the familial mutation -synchronous tumors (PGL & GIST) also showed SDHB immunonegativity
Am J Surg Pathol [4] familial mutation Synchronous tumors also showed negative staining for SDHB 46 Gill et al N Engl J Med [12] Gill et al Am J Surg Pathol [4] 21/F None SDHB c.268C>T Neg Mother 43,45 yrs -subsequently demonstrated to carry the familial mutation -metachronous tumors showed SDHB immunonegativity Multiple HN PGLs carotid body (R) PGL (43yrs); jugular (L) PGL and vagal (L) PGL (45 yrs) Disease free (7 years) 47 Gill et al N Engl J Med [12] Gill et al Am J Surg Pathol [4] 22/M None SDHB: c.423+1G>A Neg Nephew 19yrs subsequently demonstrated to carry the familial mutation Extra-adrenal PGL (intra-abdominal/ metastatic) Brother 44yrs -subsequently demonstrated to the familial mutation -synchronous tumors (PGL & GIST) also showed SDHB immunonegativity Brother 44yrs SDH deficient GIST DOD (1 year) progressive metastatic disease
PAS_2014_05_30_GILL_AJSP-D-14-00284_SDC1.docx