A Novel Combination of Metachronous Primary Malignancies of the Thyroid and Breast in a Patient with Neurofibromatosis Type 1

Findakly, Dawood; Solsi, Anup; Arslan, Waqas

doi:10.7759/cureus.7590

Cited by 1 publication

(2 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In exceptional conditions, it can also be favored by GH secretion from pituitary somatotroph adenomas (168). A population-based study estimated the relative risk of NF1 patients developing thyroid cancer to be 4.9 (178). However, only a few cases have been reported in the literature, so a coincidental association cannot be excluded.…”

Section: Nf1mentioning

confidence: 99%

“…However, only a few cases have been reported in the literature, so a coincidental association cannot be excluded. Different types of thyroid tumors have been reported, such as well-differentiated papillary cancer or medullary thyroid cancer ( 179 – 182 ). Pathologists must be aware of the presence of NF1 because cancer should not be confused with rare intrathyroid neurofibroma ( 183 , 184 ).…”

Section: Thyroid Tumorsmentioning

confidence: 99%

See 1 more Smart Citation

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier

Dupuis²,

Jannin

et al. 2021

Front. Endocrinol.

View full text Add to dashboard Cite

Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to molecular abnormalities on the RAS-PI3K-Akt-mTOR pathway for NF1, TSC and CS, and to hypoxia sensing for VHL. Phakomatoses share some phenotypic traits such as neurological, ophthalmological and cutaneous features. Patients with these diseases are also predisposed to developing multiple endocrine tissue tumors, e.g., pheochromocytomas/paragangliomas are frequent in VHL and NF1. All forms of phakomatoses except CS may be associated with digestive neuroendocrine tumors. More rarely, thyroid cancer and pituitary or parathyroid adenomas have been reported. These susceptibilities are noteworthy, because their occurrence rate, prognosis and management differ slightly from the sporadic forms. The aim of this review is to summarize current knowledge on endocrine glands tumors associated with VHL, NF1, TSC, and CS, especially neuroendocrine tumors and pheochromocytomas/paragangliomas. We particularly detail recent advances concerning prognosis and management, especially parenchyma-sparing surgery and medical targeted therapies such as mTOR, MEK and HIF-2 α inhibitors, which have shown truly encouraging results.

show abstract

Section: Nf1mentioning

confidence: 99%