Table 2.
SDHA mutation positivity, neoplasms and autoimmune diseases present in the family and patient.
| Patient number | Family history of PHEO/PGL | Relative/s with SDHA mutation | Coexisting neoplasms in the patient | Family history of neoplasms other than PHEO/PGL | Coexisting autoimmune disease in the patient | Family history of autoimmune disease |
|---|---|---|---|---|---|---|
| 1 | None | Mothera; 2 siblingsa | Pancreatic masses of unknown nature | Small cell lung cancer (maternal uncle) | None | None |
| 2 | None | No data | Breast masses of unknown nature, probable vertebral body hemangioma, liver hemangiomas, renal masses possibly cysts, uterine fibroids, submandibular gland cyst | Pancreatic cancer (mother); breast cancer (maternal uncle); glioblastoma (maternal first cousin); melanoma (father); colon cancer (2 paternal cousins); liver cancer (paternal cousin) | Hashimoto's thyroiditis | None |
| 3 | None | Fatherb; brothera | Liver and lung masses of unknown nature | Lipoma (mother); basal skin cancer (father); prostate cancer (paternal grandfather); lung cancer (paternal grandmother); stomach cancer (paternal grandmother) | None | Rheumatoid arthritis (mother); multiple sclerosis (maternal grandmother) |
| 4 | None | No data | GIST, non-functioning left adrenal adenomas, right RCC, esophageal leiomyomas, thyroid cyst, benign lung nodule, liver and renal cysts, vertebral body hemangioma | None | None | None |
| 5 | None | No data | Renal cysts | Small cell lung cancer (father) | None | None |
| 6 | None | Mothera | None | None | None | Sjogren's disease (mother) |
| 7 | None | Daughtera | Squamous cell carcinoma of skin | Colon cancer (maternal aunt) | None | None |
| 8 | None | Sisterb | Prolactinoma | Uterine or possible ovarian cancer (maternal aunt); prostate cancer (maternal uncle); intestinal cancer (paternal grandmother) | Hashimoto's thyroiditis | None |
| 9 | None | Fatherb | None | Breast cancer (sister) | None | None |
| 10 | None | No data | Melanoma | Lung cancer (maternal grandmother) | None | None |
a
No data on whether biochemical and imaging tests were performed or not.
b
Had negative imaging finding for PHEO/PGL and no data on whether biochemical tests were performed or not.
GIST, gastrointestinal stromal tumor; PHEO, pheochromocytoma; PGL, paraganglioma; RCC, renal cell carcinoma; SDHA, succinate dehydrogenase complex subunit.