RET Proto-Oncogene and Its Role in Multiple Endocrine Neoplasia and Medullary Thyroid Cancer

1996 ◽  
pp. 73-89
Author(s):  
Paul Goodfellow ◽  
Jeffrey F. Moley
Keyword(s):  
Thyroid Cancer ◽  
Multiple Endocrine Neoplasia ◽  
Medullary Thyroid Cancer ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia

Prophylactic thyroidectomy as method of medullary thyroid carcinoma prevention in children from MEN syndrom families

2017 ◽  
Vol 8 (5) ◽  
pp. 5-11
Author(s):  
Zoya S. Matveeva ◽  
Anatoliy F. Romanchishen ◽  
Alexandr V. Gostimsky ◽  
Kristina V. Vabalayte
Keyword(s):  
Thyroid Cancer ◽  
Thyroid Gland ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Multiple Endocrine Neoplasia ◽  
Medullary Thyroid Cancer ◽  
Parathyroid Glands ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia ◽  
The Family

The article presents results of diagnostics, surgical treatment and follow-up of patients with rare hereditary-conditioned forms of thyroid cancer – medullary thyroid carcinoma in content of multiple endocrine neoplasia syndrome. Particular attention is paid to the examination and tactics of treatment of children and adolescents with family genetically confirmed Sipple syndrome. The disease is diagnosed in 4 families. Syndrome of multiple endocrine neoplasia 2a type we found in 7 (0.024%) of 29,325 children and adult patients. All the children were from families in which one of the blood relatives suffered medullary thyroid cancer. The family nature of the disease was confirmed by molecular genetic studies that revealed mutations in C634 (T1900C) in the 11 exon of the RET gene. Only in 3 out of 7 cases thyroidectomy was prophylactic. Four children were fond foci of medullary carcinoma in the removed thyroid gland. In total, 22 operations were performed for the members of 4 families suffering from the family syndrome MEN-2a. The article shows that if a patient is diagnosed Sippl's syndrome, all his blood relatives need to be checked for the mutation of the RET gene to identify familial medullary thyroid cancer, adenomas of parathyroid glands and pheochromocytomas. Early removal of the thyroid gland (in children under the age of 5 years) prevents medullary cancer, and timely diagnosis and adequate surgical removal of neoplasms of parathyroid glands and adrenal glands ensure recovery of the patients. Closest relatives should be checked for the level of calcium and calcitonin, catecholamines, vanillylmandelic acid and metanephrine, ACTH, cancer-embryonic antigen.

scholarly journals Metastatic Thyroid Cancer After Thyroidectomy in Patient With Neuroendocrinal Tumor

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A1000-A1001
Author(s):  
Maram Khalifa ◽  
Hassaan Aftab ◽  
Vitaly Kantorovich
Keyword(s):  
Thyroid Cancer ◽  
Early Diagnosis ◽  
Total Thyroidectomy ◽  
Multiple Endocrine Neoplasia ◽  
Medullary Thyroid Cancer ◽  
Multiple Endocrine Neoplasia Type ◽  
Parathyroid Hyperplasia ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Abstract Background: Multiple endocrine neoplasia type 2 is an autosomal dominant disorder with an estimated prevalence of 1 per 30,000 in the general population. Classical multiple endocrine neoplasia 2A is the most common variant. It is a heritable predisposition to medullary thyroid cancer, pheochromocytoma, and primary parathyroid hyperplasia. The respective frequency of these tumors in classical MEN2A is over 90 percent for MTC, approximately 10 to 50 percent for pheochromocytoma, and 10 to 20 percent for multigland parathyroid hyperplasia. Discussion: our interesting patient is a 67-year-old patient with past medical history of prophylactic total thyroidectomy at the age of 25 years after a positive pentagastrin test (sister was diagnosed with MTC, pheochromocytoma),niece with metastatic kidney cancer.at that time, patient had benign pathology. Patient presented to the ED with a complain of shortness of breath after being referred by her PCP for evaluation of possible pneumonia. In the ED, her vitals were within normal, chest X-ray was done and didn’t show pneumonia but the patient was found to have elevated procalcitonin of 22.7 ng/mL(0.09 ng/mL) CT chest was done and showed enlarged necrotic cervical lymphadenopathy which was confirmed by obtaining CT of the neck. Patient had right cervical LN core biopsy, pathology was positive for medullary thyroid cancer with Immunohistochemical studies positive for TTF-1, chromogranin, synaptophysin and calcitonin, testing for pheochromocytoma came back within normal, CEA 70.7ng/ml (<0.25 ng/ml), calcitonin 2949 pg/ml (5 pg/mL) Chromogranin was high at 453 ng/ml (25 - 140 ng/mL) had PET CT with multiple low right cervical and supraclavicular lymph nodes with internal calcifications and abnormal FDG activity, which were suspicious for medullary thyroid cancer metastases, she eventually had radical neck dissection with pathology from inferior parathyroid gland positive for medullary thyroid cancer and 12/15 regional LN positive for malignancy, after the procedure her calcitonin dropped nicely to 194pg/ml, CEA dropped to 4.0, chromogrannin to 394, she was referred to genetic testing and tested positive for pathogenic variant within RET (c.1859G>T, p.Cys620Phe), which is known to be associated with multiple endocrine neoplasia type 2A, she is currently being evaluated for Lutathera treatment. Conclusion: In contrast to MEN1, in which the long-term benefit of early diagnosis by genetic screening is not well established, early diagnosis by screening of “at-risk” family members in MEN2 with positive RET mutation kindreds is essential because MTC is a life-threatening disease that can be cured or prevented by early thyroidectomy. Total thyroidectomy has been recommended for patients as young as 3 years for MEN2A if they contain the genetic mutation.

scholarly journals Interdisciplinary data bank in oncoendocrinology. Medullary thyroid cancer and type 2 multiple endocrine neoplasia syndromes

2020 ◽  
Vol 13 (3) ◽  
pp. 105-117
Author(s):  
Pavel O. Rumiantsev ◽  
Konstantin Y. Slashchuk ◽  
Sergey V. Korenev ◽  
Andrei G. Goncharov ◽  
Dmitriy G. Beltsevich ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Multiple Endocrine Neoplasia ◽  
Medullary Thyroid Cancer ◽  
Data Bank ◽  
Automated Control ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia ◽  
Long Run ◽  
Medical Institutions

Medullary thyroid cancer (MTC) is about 5% of all thyroid carcinomas and is hereditary in 2030% of cases. Multiple endocrine neoplasia syndrome type 2 (MEN2), in addition to medullary thyroid cancer, may include pheochromocytoma, hyperparathyroidism, and some other manifestations. The multidisciplinary data bank (MDB) developed by us is a specialized resource for storing, accumulating and subsequent analysis of data on patients with MTC and MEN2 syndromes. The MDB allows you to collect data from any sources (primary care, medical institutions at various levels, federal centers) and provides internal automated control of the quality and quantity of input data. It is necessary to keep a record of such data to improve the efficiency of diagnostics, treatment and rehabilitation of patients. MDB is an integrated digital platform containing reference materials for doctors, which allows combining evidence-based clinical experience in patients, and provides the opportunity for expert support of medical decisions. In the long run, it will help us organize digitally stored data for machine learning and lays the groundwork for the development of artificial neural networks.

Surgical Curability of Medullary Thyroid Cancer in Multiple Endocrine Neoplasia 2B

2014 ◽  
Vol 259 (4) ◽  
pp. 800-806 ◽  
Author(s):  
Michael Brauckhoff ◽  
Andreas Machens ◽  
Kerstin Lorenz ◽  
Trine Bjøro ◽  
Jan Erik Varhaug ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Multiple Endocrine Neoplasia ◽  
Medullary Thyroid Cancer ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia

scholarly journals Recurrent Pheochromocytoma, as Component of Multiple Endocrine Neoplasia

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A1004-A1005
Author(s):  
Hydelene Beray Dominguez ◽  
Elizabeth P Pacheco ◽  
Cecilia Jimeno ◽  
Franceslina C Lantion-Ang ◽  
Edrome Hernandez ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Multiple Endocrine Neoplasia ◽  
Medullary Thyroid Cancer ◽  
Signs And Symptoms ◽  
Cervical Lymph Nodes ◽  
Genetic Syndrome ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia ◽  
Adrenal Masses

Abstract Background: Pheochromocytoma is a rare neuroendocrine tumor from the adrenal medulla’s chromaffin cells that secrete catecholamines. The mainstay of treatment is surgery. Although rare, it has a recurrence rate of 6.5-16.5% even after adequate surgical removal with a notable increase in prevalence among genetic syndromes, extra-adrenal tumors, larger tumor size, and younger age of diagnosis. Case: A 23-year-old Filipino male with no known familial disease presented with episodic headache, palpitations, diaphoresis, and resistant hypertension. Two masses in the left adrenal gland, with the larger one measuring 6.0cm x 5.0cm x 3.0cm, were surgically removed. Histologic examination revealed pheochromocytoma. Post-operatively, there was the normalization of urinary metanephrines and the resolution of the signs and symptoms. He was lost to follow-up and returned five years later with an abdominal ultrasound demonstrating a right adrenal mass. He had no accompanying signs and symptoms; the physical examination was unremarkable. On workup, biochemical testing revealed two 24-hour urinary metanephrine levels were markedly elevated, 14.49 and 19.97 (NV:0-1mg/24 hours). Calcitonin: 644 (NV:0-18pg/ml) and carcinoembryonic antigen (CEA): 23.52 (NV:<5ng/ml) were also elevated. Mild hypercalcemia was noted with elevated intact PTH 101.74 (NV:0-65pg/ml). Parathyroid scintigraphy was normal. The neck ultrasound showed multiple bilateral thyroid nodules, with the largest measuring 1.2cmx0.9cm (TIRADS IV). The abdominal CT scan showed two well-defined, homogenous right adrenal masses, with the largest measuring 6.3cm x 5.6cm x 7.4cm. He underwent right adrenalectomy, and histopathology showed pheochromocytoma with Pheochromocytoma of the Adrenal Scale Score (PASS) of 3. One month later, he underwent total thyroidectomy with neck dissection and inferior parathyroid gland resection. Histopathology confirmed medullary thyroid cancer with nodal metastasis and parathyroid adenoma. The patient recovered well without complications. Biochemical tests normalized eight weeks post-surgery. The presence of synchronous recurrent pheochromocytoma, medullary thyroid cancer (MTC), and primary hyperparathyroidism is consistent with multiple endocrine neoplasia 2A (MEN2A) syndrome. Conclusion: Lifelong follow-up is essential in patients treated for pheochromocytoma despite the complete removal of the adrenal masses due to recurrence risk. Recurrence should likewise raise the suspicion of MEN2, a genetic syndrome. In addition, the pheochromocytoma has malignant characteristics, and the MTC has metastases to the cervical lymph nodes. Early detection and prompt intervention are essential for the treatment of the disease.

Sign in / Sign up

Export Citation Format

Share Document