CDC73 (HRPT2) germline pathogenic variants drive Hyperparathyroidism–Jaw Tumor (HPT-JT) s...
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BMA-CDC73-GERMLINE-HPT-JT |
|---|---|
| Тип | Клінічна застосовність |
| Статус | переглянуто 2026-05-18 | очікує клінічного підпису | потрібне рев’ю клінічної застосовності |
| Хвороби | DIS-PARATHYROID-CARCINOMA |
| Джерела | SRC-ENDOCRINE-SOCIETY-MEN-2023 SRC-NCCN-THYROID-2025 |
Дані про клінічну застосовність
| Біомаркер | BIO-CDC73-GERMLINE |
|---|---|
| Варіант | CDC73 (HRPT2) germline pathogenic (Hyperparathyroidism–Jaw Tumor syndrome) |
| Хвороба | DIS-PARATHYROID-CARCINOMA |
| Рівень ESCAT | IIA |
| Рекомендовані комбінації | annual serum calcium + PTH + neck exam from age 5-10, panoramic radiograph or jaw CT periodically from age 10 (ossifying fibroma), renal imaging (US ± MRI) every 5 years, pelvic imaging in women per uterine-tumor risk, en-bloc parathyroidectomy + ipsilateral thyroid lobectomy at first parathyroid surgery (avoid focused minimally-invasive parathyroidectomy in CDC73 carriers — high carcinoma + recurrence risk), cinacalcet considered for medical control of hypercalcemia in unresectable parathyroid carcinoma, denosumab for hypercalcemia of parathyroid carcinoma refractory to other measures |
| Протипоказана монотерапія | focused minimally-invasive parathyroidectomy as default in CDC73 carriers — preferred approach is en-bloc resection with ipsilateral thyroidectomy given carcinoma risk |
| Підсумок доказів | CDC73 (HRPT2) germline pathogenic variants drive Hyperparathyroidism–Jaw Tumor (HPT-JT) syndrome — primary hyperparathyroidism (often single-gland adenoma but with ~15% lifetime parathyroid carcinoma risk, much higher than sporadic PHPT where carcinoma is <1%), ossifying fibromas of mandible/ maxilla, uterine tumors (adenofibroma, adenomyomatous polyps, carcinoma), renal cysts, and Wilms-like renal tumors. Familial isolated hyperparathyroidism (FIHP) is an overlapping presentation with attenuated extra-parathyroid features. Confirmed-carrier surveillance protocol (per Endocrine Society Hereditary Endocrine Tumor Guideline + Marx et al.): annual serum calcium + parathyroid hormone (PTH) + neck physical exam starting age 5-10; jaw imaging (panoramic / CT) periodically from age 10 for ossifying fibroma; renal imaging (US ± MRI) every 5 years; pelvic imaging in women per uterine-tumor concern. On parathyroid surgery in HPT-JT carriers, en-bloc resection with thyroidectomy + lifelong follow-up is preferred over minimally invasive parathyroidectomy due to elevated carcinoma risk and recur... |
Нотатки
STUB — Wave A+B germline expansion. Linked Indication: none (no HPT-JT- specific Indication exists yet). Two-Clinical-Co-Lead signoff queued. The parent biomarker entity uses SRC-NCCN-BCELL-2025 as a placeholder source (apparent mis-anchor in BIO-CDC73-GERMLINE); this BMA uses SRC-NCCN- THYROID-2025 + SRC-ENDOCRINE-SOCIETY-MEN-2023 as more clinically appropriate. CDC73 inactivation also occurs somatically in a high fraction of sporadic parathyroid carcinomas — a sporadic parathyroid carcinoma case should prompt CDC73 germline testing per current guidelines.
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