scholarly journals Multiple Endocrine Neoplasia or Accidental Association?

2020 ◽  
Author(s):  
Georgiana Cristina Taujan ◽  
Felicia Baleanu ◽  
Linda Spinato ◽  
Ruth Duttmann ◽  
Rafik Karmali ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Primary Hyperparathyroidism ◽  
Thyroid Carcinoma ◽  
Genetic Predisposition ◽  
Multiple Endocrine Neoplasia ◽  
Genetic Mutation ◽  
Parathyroid Hyperplasia ◽  
Papillary Thyroid ◽  
Endocrine Neoplasia

Pheochromocytoma, papillary thyroid carcinoma and hyperparathyroidism have rarely been reported together. Whether this association is coincidental or results from an unknown genetic predisposition is difficult to ascertain. We present the case of a patient who was diagnosed with pheochromocytoma, bilateral papillary thyroid carcinoma and parathyroid hyperplasia with primary hyperparathyroidism. A genetic mutation was hypothesized as the connection between these lesions. Previously described mutations were explored.

scholarly journals Multiple Endocrine Neoplasia Type 1 Combined With Papillary Thyroid Carcinoma and Nodular Goiter: A Case Report and Review of The Literature

2020 ◽  
Author(s):  
Jialu Xu ◽  
Su Dong ◽  
Zhe Han ◽  
Lele Sun ◽  
Jia Liu
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Nodular Goiter ◽  
Surgical Removal ◽  
Papillary Thyroid ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Abstract Introduction: This is the first report of multiple endocrine neoplasia type 1 (MEN1) combined with papillary thyroid carcinoma (PTC) and nodular goiter in China. MEN1 is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and presenting mostly as tumors of the parathyroid, endocrine pancreas (such as gastrinoma) and anterior pituitary. However, PTC and nodular goiter were not previously regarded as components.Patient concerns: We present a 35-year-old woman with MEN1 accompanied with coinstantaneous PTC and nodular goiter.Diagnosis: The pathological diagnosis was PTC with cervical lymph node metastasis, nodular goiter, parathyroid cyst and adenomatoid hyperplasia. Genetic analysis was performed and a germ-line MEN1 gene mutation was detected.Interventions: The patient underwent unilateral lobectomy of the thyroid gland and surgical removal of the parathyroid tumors.Outcomes: After 6 months of follow-up, ultrasonic examination of the patient’s neck showed no abnormality. Serum calcium and parathyroid hormone levels were normal.Conclusion: This is the first experience of a case of MEN1 combined with PTC and nodular goiter in China. MEN1 syndrome may have predisposed the present patient to PTC and nodular goiter. PTC and/or nodular goiter may be new components of MEN1. More cases are required to confirm this association.

scholarly journals Papillary Thyroid Carcinoma and Cushing’s Disease: A Rare Association With Multiple Endocrine Neoplasia Type 1

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A1003-A1003
Author(s):  
Léo Nunes Benevides ◽  
Pedro Gomes Pinto Holanda ◽  
Aline Teixeira de Melo ◽  
Juliana Tomaz Pinheiro ◽  
Carlos Eduardo Lopes Soares ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Papillary Thyroid ◽  
Rare Association ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Abstract Introduction: Multiple Endocrine Neoplasia type 1 (MEN1) is characterized by tumours of the parathyroid glands, neuroendocrine pancreatic tumour (PNET), and anterior pituitary. Studies suggest that MEN1 gen is not etiologically related to the oncogenesis of the papillary thyroid carcinoma (PTC). Expression of menin is preserved in human normal thyroid tissue and THc. Papillary thyroid carcinoma (PTC) combined with multiple endocrine neoplasia type 1 is a rare association. Cushing Syndrome (CS) is another rare associated condition with MEN-1. In patients with MEN1, CS can result from pituitary, adrenal, or other endocrine tumours. In large series of MEN-1 CS has low frequency (0.5%) or not described. Clinical Case: A.M.F.A, 49 years, female. In 2007, cytological study of thyroid nodules resulted in PTC, underwent total thyroidectomy. Anatomopathological (AP) confirmed PTC. She was followed with an excellent response to therapy. In 2018, abdominal ultrasound due to epigastric pain showed pancreatic lesion. MRI confirmed lesion in the head and body of the pancreas of 8.2cm. She underwent total gastroduodenopacreatectomy (TGDP), AP showed a well-differentiated PNET (KI67: 2%). Before TGDP, tests for MEN-1 were collected: IGF-1 of 450 ng/ml (RV for age: 90-249 ng/ml); calcium: 1,46 nmol/l (RV: 1,12-1,40), PTH: 91,7 pg/ml (RV: 15-65), prolactin 13,3 ng/ml (RV: 5-23), gastrin 22pg/ml (RV 13-115), and late night salivary cortisol (LNSC): 8,3 nmol/l (RV <7,6). Pituitary MRI showed a 0.5cm intrasellar nodule. Genetic study revealed c654 + 1G>T mutation in heterozygosity. O3 family members had the same mutation. To investigate hypercortisolism, it was made basal ACTH (56,1 pg/ml (VR 46 pg/ml), urine free cortisol (UFC) of 261,0 mcg/24h, 1mg DST of 15,2 mcg/dl (RV <1,8), basal cortisol of 16,5 mcg/dl and 8mg DST of 13,7 mcg/dl (not 50% suppressing of basal value). Another measurement of IGF-1 (after the PNET surgery) was normal. A petrosal venous sinus catheterization (PVSC) was made, which was compatible with Cushing’s disease (CD). She had brittle hair, facial plethora, proximal muscle weakness and easily bruising, without other clinical CS aspects. Treatment with ketoconazole was initiated and she was referred to transesphenoidal surgery. Conclusion: Patient had two rare presentation of MEN1, first manifestation was PTC. PNET and CD was diagnosed 11 years late during clinical follow up. In this patient, MEN1 syndrome may have predisposed the patient to developing PTC. Currently, little is known about the prevalence of THc in MEN1 and it is unclear whether tumorigenesis is related. Further studies and additional case reports are required to clarify this connection. Also, we observed IGF-1 value normalized after TGDP, so it could be caused by a functional PNET. Rare causes of acromegaly are excess secretion of GH-releasing hormone (GHRH) by hypothalamic tumours, and ectopic GHRH or GH secretion by NET.

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