Surgical approaches in hereditary endocrine tumors
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Published on: January 17, 2018
Maurizio Iacobone1, Marilisa Citton2, Giovanni Viel2
1Minimally Invasive Endocrine Surgery Unit, Department of Surgery, Oncology and Gastroenterology, University of Padua, Via Giustiniani 2, 35128, Padua, Italy. maurizio.iacobone@unipd.it.
Abstract:
Endocrine tumors of thyroid, adrenal and parathyroid glands may be due to germline and inheritable mutations in 5-30% of patients. Medullary Thyroid Carcinoma, Pheochromocytoma, Paraganglioma, and Familial Primary Hyperparathyroidism are the most frequent entity. Hereditary endocrine tumors usually have a suggestive familial history; they occur earlier than sporadic variants, are multifocal, and have increased recurrence rates. They may be present as isolated variant or associated to other neoplasms in a syndromic setting. Genetic diagnosis should be preferably available before surgery because specific and targeted operative management are needed to achieve the best chance of cure. This review was aimed to discuss the surgical approaches for some of the most frequent hereditary endocrine tumors of thyroid, adrenal and parathyroid glands, focusing on medullary thyroid carcinoma, Pheochromocytoma, Paraganglioma and hereditary primary hyperparathyroidism (pHPT). Hereditary Medullary Thyroid Carcinoma is caused by RET mutations, and may be associated to Pheochromocytomas in MEN 2 setting. Total thyroidectomy and at least central neck nodal dissection is required. The availability of genetic screening allows prophylactic or early surgery in asymptomatic patients, with subsequent definitive cure. Hereditary Pheochromocytomas may be present in several syndromes (MEN 2, VHL, NF1, Paraganglioma/Pheochromocytoma syndrome); it may involve both adrenals; in these cases, a cortical sparing adrenalectomy should be performed to avoid permanent hypocorticosurrenalism. Hereditary Primary Hyperparathyroidism may frequently occur associated to MEN 1, MEN 2A, MEN 4, Hyperparathyroidism-Jaw Tumor Syndrome; it may involve all the parathyroid glands, requiring subtotal parathyroidectomy or total parathyroidectomy plus autotransplantation. In some cases, a selective parathyroidectomy might be performed.
Insights
Germline mutations cause 5-30% of endocrine tumors. This review details surgical strategies for hereditary medullary thyroid carcinoma, pheochromocytoma, and primary hyperparathyroidism, emphasizing early genetic diagnosis for optimal outcomes.
Area of Science:
- Endocrinology
- Surgical Oncology
- Genetics
Background:
- Germline mutations account for 5-30% of endocrine tumors affecting the thyroid, adrenal, and parathyroid glands.
- Hereditary endocrine tumors often present earlier, are multifocal, and have higher recurrence rates than sporadic forms.
- Syndromic associations with other neoplasms are common in hereditary endocrine tumor settings.
Purpose of the Study:
- To review surgical approaches for common hereditary endocrine tumors: medullary thyroid carcinoma, pheochromocytoma, paraganglioma, and primary hyperparathyroidism.
- To highlight the importance of genetic diagnosis prior to surgery for tailored management and improved cure rates.
Main Methods:
- Review of surgical management strategies for specific hereditary endocrine tumors.
- Focus on genetic underpinnings (e.g., RET mutations in medullary thyroid carcinoma) and associated syndromes (e.g., MEN 2, VHL, NF1).
- Discussion of surgical techniques including total thyroidectomy, central neck dissection, cortical-sparing adrenalectomy, subtotal/total parathyroidectomy with autotransplantation, and selective parathyroidectomy.
Main Results:
- Hereditary medullary thyroid carcinoma (RET mutations) requires total thyroidectomy and central neck dissection; early genetic screening enables prophylactic/early surgery.
- Hereditary pheochromocytomas (MEN 2, VHL, NF1) may be bilateral, necessitating cortical-sparing adrenalectomy to preserve adrenal function.
- Hereditary primary hyperparathyroidism (MEN 1, MEN 2A, MEN 4, HPT-JT) often involves all glands, requiring subtotal or total parathyroidectomy with autotransplantation.
Conclusions:
- Preoperative genetic diagnosis is crucial for selecting appropriate surgical strategies in hereditary endocrine tumors.
- Tailored surgical interventions, including organ-sparing techniques where possible, optimize outcomes and minimize morbidity.
- Early detection and management through genetic screening significantly improve cure rates and long-term prognosis for patients with hereditary endocrine tumors.
