Literature DB >> 28455835

Surgical approaches in hereditary endocrine tumors.

Maurizio Iacobone1, Marilisa Citton2, Giovanni Viel2, Donatella Schiavone2, Francesca Torresan2.   

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.

Entities:  

Keywords:  Hereditary tumors; Medullary thyroid carcinoma; Paraganglioma; Pheochromocytoma; Primary hyperparathyroidism

Mesh:

Year:  2017        PMID: 28455835     DOI: 10.1007/s13304-017-0451-y

Source DB:  PubMed          Journal:  Updates Surg        ISSN: 2038-131X


  50 in total

1.  Minimally invasive cortical-sparing surgery for bilateral pheochromocytomas.

Authors:  Pier Francesco Alesina; Jakob Hinrichs; Beate Meier; Kurt W Schmid; Hartmut P H Neumann; Martin K Walz
Journal:  Langenbecks Arch Surg       Date:  2011-09-21       Impact factor: 3.445

Review 2.  Surgical approach in hereditary hyperparathyroidism.

Authors:  Francesco Tonelli; Tommaso Marcucci; Francesco Giudici; Alberto Falchetti; Maria Luisa Brandi
Journal:  Endocr J       Date:  2009-10-02       Impact factor: 2.349

Review 3.  Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Authors:  Samuel A Wells; Sylvia L Asa; Henning Dralle; Rossella Elisei; Douglas B Evans; Robert F Gagel; Nancy Lee; Andreas Machens; Jeffrey F Moley; Furio Pacini; Friedhelm Raue; Karin Frank-Raue; Bruce Robinson; M Sara Rosenthal; Massimo Santoro; Martin Schlumberger; Manisha Shah; Steven G Waguespack
Journal:  Thyroid       Date:  2015-06       Impact factor: 6.568

4.  Primary hyperparathyroidism in children and adolescents: the Johns Hopkins Children's Center experience 1984-2001.

Authors:  Stephanie C Hsu; Michael A Levine
Journal:  J Bone Miner Res       Date:  2002-11       Impact factor: 6.741

5.  Biomarker-based risk stratification for previously untreated medullary thyroid cancer.

Authors:  Andreas Machens; Henning Dralle
Journal:  J Clin Endocrinol Metab       Date:  2010-03-25       Impact factor: 5.958

6.  Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

Authors:  Li Yao; Francesca Schiavi; Alberto Cascon; Yuejuan Qin; Lucia Inglada-Pérez; Elizabeth E King; Rodrigo A Toledo; Tonino Ercolino; Elena Rapizzi; Christopher J Ricketts; Luigi Mori; Mara Giacchè; Antonella Mendola; Elisa Taschin; Francesca Boaretto; Paola Loli; Maurizio Iacobone; Gian-Paolo Rossi; Bernadette Biondi; José Viana Lima-Junior; Claudio E Kater; Marie Bex; Miikka Vikkula; Ashley B Grossman; Stephen B Gruber; Marta Barontini; Alexandre Persu; Maurizio Castellano; Sergio P A Toledo; Eamonn R Maher; Massimo Mannelli; Giuseppe Opocher; Mercedes Robledo; Patricia L M Dahia
Journal:  JAMA       Date:  2010-12-15       Impact factor: 56.272

Review 7.  Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma.

Authors:  Andreas Machens; Henning Dralle
Journal:  World J Surg       Date:  2007-05       Impact factor: 3.352

8.  Increased urinary excretion of 3-methoxytyramine in patients with head and neck paragangliomas.

Authors:  N van Duinen; D Steenvoorden; I P Kema; J C Jansen; A H J T Vriends; J P Bayley; J W A Smit; J A Romijn; E P M Corssmit
Journal:  J Clin Endocrinol Metab       Date:  2009-11-06       Impact factor: 5.958

9.  Sporadic primary hyperparathyroidism in young individuals: different disease and treatment?

Authors:  Mark S Sneider; Carmen C Solorzano; Raquel E Montano; Charles Anello; George L Irvin; John I Lew
Journal:  J Surg Res       Date:  2008-09-04       Impact factor: 2.192

10.  Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred.

Authors:  Maurizio Iacobone; Giulia Masi; Luisa Barzon; Andrea Porzionato; Veronica Macchi; Francesco Antonio Ciarleglio; Giorgio Palù; Raffaele De Caro; Giovanni Viel; Gennaro Favia
Journal:  Langenbecks Arch Surg       Date:  2009-06-16       Impact factor: 3.445

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  6 in total

1.  Non-functioning parathyroid cystic tumour: malignant or not? Report of a case.

Authors:  G Cocorullo; G Scerrino; G Melfa; C Raspanti; G Rotolo; V Mannino; P Richiusa; D Cabibi; A G Giannone; C Porrello; G Gulotta
Journal:  G Chir       Date:  2017 Sep-Oct

Review 2.  Adrenal pheochromocytoma: is it all or the tip of the iceberg?

Authors:  Ke Wang; Guanglei Tang; Yang Peng; Chang Li; Wenhao Fu; Ruixi Li; Jian Guan
Journal:  Jpn J Radiol       Date:  2021-09-21       Impact factor: 2.374

3.  Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report.

Authors:  Masahiro Shibata; Takahiro Inaishi; Noriyuki Miyajima; Yayoi Adachi; Yuko Takano; Kenichi Nakanishi; Dai Takeuchi; Sumiyo Noda; Yuichi Aita; Kazuhiro Takekoshi; Yasuhiro Kodera; Toyone Kikumori
Journal:  Surg Case Rep       Date:  2017-12-28

Review 4.  Pheochromocytoma and Paraganglioma: From Epidemiology to Clinical Findings.

Authors:  Nurcihan Aygun; Mehmet Uludag
Journal:  Sisli Etfal Hastan Tip Bul       Date:  2020-06-03

5.  Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant.

Authors:  Diana Borges Duarte; Lia Ferreira; Ana P Santos; Cláudia Costa; Jorge Lima; Catarina Santos; Mariana Afonso; Manuel R Teixeira; Rui Carvalho; Maria Helena Cardoso
Journal:  Front Endocrinol (Lausanne)       Date:  2021-03-17       Impact factor: 5.555

Review 6.  Frequently asked questions and answers (if any) in patients with adrenal incidentaloma.

Authors:  F Ceccato; M Barbot; C Scaroni; M Boscaro
Journal:  J Endocrinol Invest       Date:  2021-06-23       Impact factor: 4.256

  6 in total

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