The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1

Carty, Sally E.; Helm, Audrey K.; Amico, Janet A.; Clarke, Martha; Foley, Thomas P.; Watson, Charles G.; Mulvihill, John J.

doi:10.1067/msy.1998.93107

Cited by 169 publications

(164 citation statements)

References 17 publications

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“…To our knowledge, no cases of PGL and only seven cases of PCC in the MEN1 syndrome have been reported in the literature (Alberts et al 1980, Trump et al 1996, Carty et al 1998, Marx et al 1998, 1999, Dackiw et al 1999, previously summarized by (Schussheim et al 2001). However, the authors know from personal communication that more unpublished cases exist, and the real incidence is thus not known.…”

Section: Men1-associated Pccs and Pglsmentioning

confidence: 62%

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander¹,

Söderkvist²,

Gimm³

2011

Endocrine-Related Cancer

315

321

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Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel susceptibility genes have recently been discovered. The clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background of the tumors. By reviewing more than 1700 reported cases of hereditary PCC and PGL, a thorough summary of the genetics and clinical features of these tumors is given, both as part of the classical syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau disease, neurofibromatosis type 1, and succinate dehydrogenase-related PCC-PGL and within syndromes associated with a smaller fraction of PCCs/PGLs, such as Carney triad, Carney-Stratakis syndrome, and MEN1. The review also covers the most recently discovered susceptibility genes including KIF1Bb, EGLN1/PHD2, SDHAF2, TMEM127, SDHA, and MAX, as well as a comparison with the sporadic form. Further, the latest advances in elucidating the cellular pathways involved in PCC and PGL development are discussed in detail. Finally, an algorithm for genetic testing in patients with PCC and PGL is proposed.

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Section: Men1-associated Pccs and Pglsmentioning

confidence: 62%

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Welander¹,

Söderkvist²,

Gimm³

2011

Endocrine-Related Cancer

315

321

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“…Primary hyperparathyroidism (HPT) is associated with MEN1 syndrome in the 80-90% of cases (101). HPT in patients with MEN1 syndrome is usually more aggressive than sporadic HPT and often involves multiple glands (102).…”

Section: Surgery Of Nets In Multiple Endocrine Neoplasia Type 1 Patientsmentioning

confidence: 99%

GEP–NETS UPDATE: A review on surgery of gastro-entero-pancreatic neuroendocrine tumors

Partelli

Maurizi

Tamburrino

et al. 2014

European Journal of Endocrinology

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The incidence of neuroendocrine tumors (NETs) has increased in the last decades. Surgical treatment encompasses a panel of approaches ranging from conservative procedures to extended surgical resection. Tumor size and localization usually represent the main drivers in the choice of the most appropriate surgical resection. In the presence of small (!2 cm) and asymptomatic nonfunctioning NETs, a conservative treatment is usually recommended. For localized NETs measuring above 2 cm, surgical resection represents the cornerstone in the management of these tumors. As they are relatively biologically indolent, an extended resection is often justified also in the presence of advanced NETs. Surgical options for NET liver metastases range from limited resection up to liver transplantation. Surgical choices for metastatic NETs need to consider the extent of disease, the grade of tumor, and the presence of extra-abdominal disease. Any surgical procedures should always be balanced with the benefit of survival or relieving symptoms and patients' comorbidities.

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“…In the literature, the disease penetrance of MEN1 is 82 -99% at age 50 (10,11). However, an age of onset of 86 years has been reported (10), and three of the family members of our index patient are older than 60.…”

Section: Low Penetrance Of Men1mentioning

confidence: 86%

“…However, an age of onset of 86 years has been reported (10), and three of the family members of our index patient are older than 60. To our knowledge, a MEN1 family showing as few clinical features as the family described here (10%) has not been reported to date.…”

Section: Low Penetrance Of Men1mentioning

confidence: 99%

Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low penetrance of the disease

Dreijerink¹,

Beek²,

Lentjes³

et al. 2005

eur j endocrinol

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Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome that is characterised by the occurrence of tumours in the parathyroid glands, the endocrine pancreas, the pituitary gland and the adrenal glands and by neuroendocrine carcinoid tumours, often at a young age. The penetrance of MEN1 among gene carriers is reported to be high; 82-99% at age 50. We present a patient with a history of parathyroid adenomas also showing signs of acromegaly. He turned out to be a carrier of a MEN1 germ-line mutation in intron 3 (IVS3-6C . G). This germ-line mutation was also found in nine of his family members. However, none of these relatives have developed any MEN1-related lesion yet, although several are older than 60 years. To our knowledge, a MEN1 family with as few clinical features as this family has not been reported to date. Because MEN1 patients have an increased risk of developing acromegaly, insulin-like growth factor (IGF-I) levels are monitored periodically. We investigated whether IGF-I levels might serve as a presymptomatic marker for acromegaly; 9% (3/33) of MEN1 patients showed temporary IGF-I elevations. One patient (1/3) later developed clinical signs of acromegaly. Possibly, acromegaly in MEN1 is preceded by a transient preacromegalic state. European Journal of Endocrinology 153 741-746

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The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1

Cited by 169 publications

References 17 publications

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

GEP–NETS UPDATE: A review on surgery of gastro-entero-pancreatic neuroendocrine tumors

Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low penetrance of the disease

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