scholarly journals Bilateral Pheochromocytoma and Medullary Thyroid Cancer

2017 ◽  
Vol 10 (3) ◽  
pp. 201-206
Author(s):  
Vyacheslav Petrovich Zemlyanoy ◽  
Aleksandr Aleksandrovich Lisitsyn ◽  
Mikhail Mikhailovich Nakhumov ◽  
Evgeniya Mikhailovna Nesvit
Keyword(s):  
Thyroid Cancer ◽  
Genetic Screening ◽  
Clinical Case ◽  
Medullary Thyroid Cancer ◽  
Genetic Research ◽  
Medullary Thyroid ◽  
Men 2 ◽  
Bilateral Pheochromocytoma ◽  
Comprehensive Examination ◽  
High Concordance

Introduction: Pheochromocytoma is one of representative of neuroendocrine tumors. According this fact, pheochromocytoma remains to evaluation for multiply endocrine neoplasia, especially if disease is bilateral. In this case, it is necessary to additionally carry out a genetic screening test. The aim of the study is to Improve diagnosis and treatment outcomes for patients with MEN syndrome. Materials and methods: The authors present a clinical case of a 37-year-old man diagnosed and treated for a bilateral pheochromocytoma. Results: The patient was diagnosed medullary thyroid cancer after successful bilateral adrenalectomy. The patient underwent thyroidectomy. A genetic research showed the T1900 mutation in the codon of 634 RET gene, which confirmed the presence of the patient MEN 2 syndrome. According to the high concordance of the mutated gene, patient's son was carried out to genetic examinations, which confirmed the presence of this mutation. The boy underwent thyroidectomy opportunely. Discussion: Due to primary oncological observation if the patient has pheochromacytoma, it is necessary to exclude MAN 2 syndrome both in the patient himself and his relatives. The safest and informative method is genetic research. Conclusion: presently a comprehensive examination of both the patient himself and his relatives is necessary for timely diagnosis and correct management of treatment patients with MEN 2 syndrome.

ACTH-producing medullary thyroid cancer. Clinical case.

2016 ◽  
Vol 62 (4) ◽  
pp. 45-49
Author(s):  
Evgenia I. Marova ◽  
Ludmila Ya. Rozhinskaya ◽  
Iya A. Voronkova ◽  
Oleg V. Remizov ◽  
Anna I. Zavalishina ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Clinical Picture ◽  
Clinical Case ◽  
Medullary Thyroid Cancer ◽  
Diagnostic Errors ◽  
Ectopic Acth Syndrome ◽  
Ectopic Acth ◽  
Medullary Thyroid ◽  
Ectopic Acth Production

Medullary thyroid cancer with ectopic ACTH production - the disease is extremely rare. The literature describes only a few cases of this disease. Rare ectopic ACTH syndrome caused by medullary thyroid cancer, and the diversity of the clinical picture are responsible for numerous diagnostic errors leading to ineffective treatment. In this regard, we consider it expedient to share our own experience in this area.

scholarly journals A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals

2018 ◽  
Vol 62 (6) ◽  
pp. 623-635 ◽  
Author(s):  
Maria Cecília Martins-Costa ◽  
Susan C. Lindsey ◽  
Lucas L. Cunha ◽  
Fernando Porto Carreiro-Filho ◽  
André P. Cortez ◽  
...  
Keyword(s):  
At Risk ◽  
Thyroid Cancer ◽  
Genetic Screening ◽  
Medullary Thyroid Cancer ◽  
The State ◽  
Medullary Thyroid ◽  
Screening Study

scholarly journals Medullary Thyroid Cancer Metastatic to the Oral Cavity: Clinical Case

2019 ◽  
Vol 16 (1) ◽  
Author(s):  
Luis Cruz-Benítez ◽  
Angélica Julián-Castrejón ◽  
Juan de Dios Pérez-Reyna
Keyword(s):  
Thyroid Cancer ◽  
Oral Cavity ◽  
Clinical Case ◽  
Medullary Thyroid Cancer ◽  
Medullary Thyroid

scholarly journals Genetic screening of patients with medullary thyroid cancer in a referral center in Greece during the past two decades

2015 ◽  
Vol 172 (4) ◽  
pp. 501-509 ◽  
Author(s):  
H-L Sarika ◽  
A Papathoma ◽  
M Garofalaki ◽  
K Saltiki ◽  
T Pappa ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Genetic Screening ◽  
Medullary Thyroid Cancer ◽  
Cell Hyperplasia ◽  
Medullary Thyroid ◽  
Referral Center ◽  
Familial Cases ◽  
C Cell Hyperplasia ◽  
Hereditary Medullary Thyroid Cancer ◽  
Exon 11

ObjectiveMutations in theRETgene are responsible for hereditary medullary thyroid cancer (MTC) and may vary between ethnic groups. We report the spectrum of mutations detected in patients with MTC in a referral center in Greece.Patients and methodsScreening forRETmutations was performed in 313 subjects from 188 unrelated families: 51 patients had clinical suspicion for familial disease, 133 were apparently sporadic, four patients had only C cell hyperplasia, and 125 were family members. Exons 8, 10, 11, and 13–16 were screened.ResultsA total of 58 individuals (30.85%) wereRETmutations carriers, 120 (63.8%) were finally classified as sporadic, 13 apparently sporadic cases (9.8%) were identified withRETmutation: ten carried the exon 8 at codon 533 mutation (previously reported), two the exon 14 at codon 804 mutation, and one the exon 13 at codon 768 mutation. Six patients (3.19%) with clinical features of multiple endocrine neoplasia type 2A and negative forRETmutations were classified as ‘unknown cause’. The mutations of hereditary cases were as follows: 21 cases (36.2%) in exon 8 codon 533, 19 (32.8%) in exon 11 codon 634, nine (15.5%) in exon 10, five (8.6%) in exon 16, three (5.2%) in exon 14 codon 804, and one in exon 13 codon 768 (1.7%).ConclusionThe spectrum ofRETmutations in Greece differs from that in other populations and the prevalence of familial cases is higher. The exon 8 (Gly533Cys) mutation was the most prevalent in familial cases unlike other series, followed by exon 11 (codon 634) mutations which are the most frequent elsewhere. The wide application of genetic screening in MTC reveals new molecular defects and helps to characterize the spectrum of mutations in each ethnic group.

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