PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROMES IN POLISH PHEOCHROMOCYTOMA REGISTRY - CLINICAL CHARACTERISTICS: PP.18.195

Abstract

Objective: To present clinical characteristics of pheochromocytoma-paraganglioma syndromes based on Polish Pheochromocytoma Registry. Design and methods: The study included 59 participants with 33 index cases from the Polish Pheochromocytoma Registry. There were 29 patients (pts) with SDHB (15 M, 14F, mean age 35 ± 18 yr), 23 pts SDHD (13 M, 10F, mean age 34 ± 12 yr) and 7 pts with SDHC mutations (4 M, 3F, mean age 44 ± 16 yr). Results: For SDHB index cases median age of diagnosis was 36 (95%CI 33–51) yr compared with 28 (95%CI 25–39) yr for the SDHD and 41 (95%CI 21–99) for SDHC (NS). There was difference in the age-related penetrance for the disease between SDHB and SDHD (SDHD 78% vs SDHB 49% by 40 yr of age, p = 0,037) and between SDHD and SDHC (33% by 40yr), p = 0,018, and a highly significant difference in the penetrance for head and neck paraganglioma (HNP) between SDHB and SDHD (SDHD 65% by 40 yr of age vs SDHB 18% by 40 yr of age, p < 0,0001). Penetrance for pheo was 40% by 40 yr of age in SDHB and 44% by 40 yr of age in SDHD (NS). There was only 1 pts with pheo in SDHC group. SDHB mutations were associated with a higher rate of malignancy than SDHD (3 of 17 (18%) vs 0 of 23 (p < 0,05) and of extraadenal tumor (SDHB 11 of 17, 65% vs SDHD 7 of 23, 30%, p < 0,05). SDHD group was characterized by higher incidence of multifocal tumors (SDHD 16 of 23 (70%) vs SDHB 5 of 17 (29%), p < 0,01), HNP (SDHD 19 of 23(83%) vs SDHB 5 of 17 (29%), p < 0,001 and recurrence (SDHD 14 of 23 (61%) vs SDHB 3 of 17 (18%), p < 0,01. Conclusions: For clinical follow-up, features of SDHB mutation-associated disease include a higher rate of malignancy, and extraadrenal tumors. SDHD mutation carriers, in addition to HNP, should be observed for multifocal tumors, and the possibility of extraadrenal pheo.