Thyroid gland neurofibroma in a NF1 patient

Abstract

Neurofibromas are a hallmark of neurofibromatosis type 1 (NF1). They are usually benign and rarely present in the thyroid gland region. There is a suspected association between NF1 and intramedullary thyroid carcinoma and there is a well-known association between NF1 and pheochromocytoma. Here, we present a 55-year-old man with typical symptoms of NF1, whose course was complicated by a neurofibroma of the thyroid gland. His clinical spectrum of symptoms included bilateral cataract established before the age of 35 years, quadriparesis and an intrathoracic mass. The patient died because of abdominal carcinomatosis of unknown origin. The rarity of thyroid gland neurofibroma is discussed here, emphasizing the importance of early detection of these and other NF1 complications, also including the risk of malignant transformation with lethal outcome.

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

“…Pathologists must be aware of the presence of NF1 because cancer should not be confused with rare intrathyroid neurofibroma (183,184). Clinical presentation, notably age at diagnosis, does not seem to differ from the usual presentation.…”

“…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 ). Clinical presentation, notably age at diagnosis, does not seem to differ from the usual presentation.…”

Thyroid neurofibroma in a female patient with neurofibromatosis type I: report of a case

“…FNA is required for definitive diagnosis of plexiform neurofibroma but its role in the investigation of other lesions related to NF type 1 such as schwannomas is rather controversial 12. Histological examination may reveal plexiform neurofibroma alone or in combination with either papillary or follicular carcinoma 13…”

Neurofibroma adjacent to the thyroid gland and a thyroid papillary carcinoma in a patient with neurofibromatosis type 1: Report of a case

“…[6][7][8][9] In particular, clinicians and patients need to be alert to the symptoms of malignant change in neurofi broma. 1 In the current case, the physical examination revealed an enlarged thyroid gland and a large nodule located on the right thyroid lobe; however US detected a solid mass in the tissue neighboring the right thyroid lobe which was soon diagnosed to be a neurofi broma.…”

“…[3][4][5] Another rare condition is a neurofi broma in thyroid tissue mimicking a nonfunctional thyroid nodule. [6][7][8][9] This report presents the case of a neurofi broma adherent to the thyroid gland with thyroid papillary carcinoma in a 26-year-old woman with NF type 1.…”