2,009 results match your criteria Multiple Endocrine Neoplasia Type 2


Multiple endocrine neoplasia type 2A syndrome (MEN2A) and usefulness of 68Ga-DOTATATE PET/CT in this syndrome.

Ann Ital Chir 2019 Mar 4;8. Epub 2019 Mar 4.

Aim: The aim of this study was to evaluate a new imaging method 68Ga-DOTATATE PET/CT as an alternative method to diagnose evidence of neuroendocrine tumors or their metastasis (if any) in patient with MEN 2A.

Methods: Three patients( 2F, 1M; age 28,46 and 50 years) with MEN 2A syndrome who underwent 68Ga-DOTATATE PET/CT scan were prospectively evaluated. PET/CT images were analyzed with measurement of maximum standardized uptake value (SUVmax). Read More

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March 2019
5 Reads
0.683 Impact Factor

Calcitonin measurement in pediatrics: reference ranges are gender-dependent, validation in medullary thyroid cancer and thyroid diseases.

Clin Chem Lab Med 2019 02 22. Epub 2019 Feb 22.

Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University Hospital of Leipzig, Leipzig, Germany.

Background: There is only limited information on serum reference ranges of calcitonin (CT) in infants, children and adolescents. This gap hampers valid diagnostics in patients with multiple endocrine neoplasia type 2 (MEN 2) and planned prophylactic thyroidectomy. In addition, age-dependent reference ranges for CT are necessary to define a cure in medullary thyroid carcinoma (MTC). Read More

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http://dx.doi.org/10.1515/cclm-2018-1186DOI Listing
February 2019
4 Reads

Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study.

Endocr Connect 2019 03;8(3):289-298

Hospital de Clínicas de Porto Alegre and Faculdade de Medicina da Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazilian centers to compare the type and prevalence of RET mutations with those from other countries. Read More

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http://dx.doi.org/10.1530/EC-18-0506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410763PMC
March 2019
1 Read

[Familial medullary thyroid carcinoma: case report and literature review.]

Rev Fac Cien Med Univ Nac Cordoba 2018 12 12;75(4):303-309. Epub 2018 Dec 12.

Instituto Nacional de Enfermedades Neoplásicas Universidad Nacional Mayor de San Marcos.

Medullary thyroid carcinoma (MTC) is a malignant tumour of the calcitonin-secreting parafollicular C cells of the thyroid gland. Up to 25% of MTC are associated to pathogenic germinal variants on the proto-oncogene RET (locus 10q11.2), which cause Familial Medullary Thyroid Carcinoma (FMTC) or Multiple Endocrine Neoplasia type 2 (MEN2); genetic conditions inherited with autosomal dominant pattern. Read More

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http://dx.doi.org/10.31053/1853.0605.v75.n4.20947DOI Listing
December 2018
6 Reads

Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study.

J Surg Oncol 2019 May 15;119(6):687-693. Epub 2019 Jan 15.

Department of ORL, Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.

Background And Objectives: Recently, a comprehensive study presented evidence that a long-disputed REarranged during Transfection (RET) variant, RET Y791F, should be classified as nonpathogenic. In spite of this, several subsequently published papers, including the revised American Thyroid Association guidelines for medullary thyroid carcinoma, refer to the variant as pathogenic. This study presents data from a unique national Danish cohort of RET Y791F carriers who have been followed by watchful waiting instead of being subjected to early thyroidectomy, to determine if any carrier shows evidence of multiple endocrine neoplasia 2A (MEN2A) at long-term follow-up. Read More

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http://doi.wiley.com/10.1002/jso.25371
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http://dx.doi.org/10.1002/jso.25371DOI Listing
May 2019
10 Reads

Familial and Hereditary Forms of Primary Hyperparathyroidism.

Front Horm Res 2019 19;51:40-51. Epub 2018 Nov 19.

Individuals with a familial predisposition to the development of parathyroid tumors constitute a small minority of all patients with primary hyperparathyroidism (PHPT). These familial syndromes exhibit Mendelian inheritance patterns and the main causative genes in most families have been identified. They include multiple endocrine neoplasia (MEN; types 1, 2A, and 4), hyperparathyroidism-jaw tumor (HPT-JT) syndrome, familial isolated hyperparathyroidism, familial hypocalciuric hypercalcemia (FHH), and neonatal severe PHPT. Read More

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https://www.karger.com/Article/FullText/491037
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http://dx.doi.org/10.1159/000491037DOI Listing
November 2018
5 Reads

Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.

J Bone Miner Res 2019 Jan 10;34(1):22-37. Epub 2018 Dec 10.

Calcium Research Laboratory, Metabolic Disorders and Complications Program, Research Institute of the McGill University Health Centre, Montreal, Canada.

We review advancing and overlapping stages for our understanding of the expressions of six hyperparathyroid (HPT) syndromes: multiple endocrine neoplasia type 1 (MEN1) or type 4, multiple endocrine neoplasia type 2A (MEN2A), hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and familial isolated hyperparathyroidism. During stage 1 (1903 to 1967), the introduction of robust measurement of serum calcium was a milestone that uncovered hypercalcemia as the first sign of dysfunction in many HPT subjects, and inheritability was reported in each syndrome. The earliest reports of HPT syndromes were biased toward severe or striking manifestations. Read More

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http://dx.doi.org/10.1002/jbmr.3650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396287PMC
January 2019
5 Reads

[Pheochromocytoma in multiple endocrine neoplasia 2A associated with pulmonary tuberculosis presenting as abdominal pain: a case report and literature review].

Medwave 2018 Nov 9;18(7):e7320. Epub 2018 Nov 9.

Departamento de Medicina Interna, Hospital Nacional Edgardo Rebagliati Martins, Lima, Perú.

Pheochromocytoma is a catecholamine-producing neoplasm that may occur sporadically or associated with hereditary diseases, such as multiple endocrine neoplasia. The classic symptoms are headache, sweating, and palpitations and are attributed to the sympathetic nervous system activity, usually presenting as paroxysms. On the other hand, pulmonary tuberculosis is an infectious disease considered a public health problem in many countries, whose incidence depends on risk factors such as immunosuppression. Read More

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http://dx.doi.org/10.5867/medwave.2018.07.7320DOI Listing
November 2018
14 Reads

Prophylactic thyroidectomy in multiple endocrine neoplasia 2 (MEN2) patients with the C634Y mutation: A long-term follow-up in a large single-center cohort.

Eur J Surg Oncol 2019 04 17;45(4):625-630. Epub 2018 Oct 17.

General Surgery Service, Endocrine Surgery Unit, Instituto Murciano de Investigaciones Biomédicas (IMIB), Virgen de la Arrixaca University Hospital, Murcia, CP 30120, Spain.

Background: Medullary thyroid carcinoma (MTC) is the main cause of death in multiple endocrine neoplasia 2A (MEN2A) patients. It is therefore important to treat this disease at an early stage. The mutation in codon 634 is considered to be associated with an aggressive clinical course, whereas the C634Y mutation may result in a more indolent course. Read More

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http://dx.doi.org/10.1016/j.ejso.2018.09.002DOI Listing
April 2019
3 Reads

[Genetics of pheochromocytoma and the relevance in surgery].

Chirurg 2019 Jan;90(1):15-22

Medizinische Universitätsklinik, Universitätsklinikum Freiburg, Freiburg, Deutschland.

Chromaffin tumors, e.g. pheochromocytomas and paragangliomas are caused by germline mutations of several susceptibility genes in 30-40% of the patients. Read More

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http://link.springer.com/10.1007/s00104-018-0741-z
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http://dx.doi.org/10.1007/s00104-018-0741-zDOI Listing
January 2019
18 Reads

C-cell hyperplasia in sporadic and familial medullary thyroid carcinoma.

Indian J Pathol Microbiol 2018 Oct-Dec;61(4):485-488

Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Context: C-cell hyperplasia (CCH) is characterized by increased mass of C-cells and has been identified as a precursor condition for medullary thyroid carcinoma (MTC). Varying proportion of MTCs is associated with CCH in different studies. This could be due to the lack of uniformity of the definitions and techniques used to identify CCH in these studies. Read More

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http://www.ijpmonline.org/text.asp?2018/61/4/485/242985
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http://dx.doi.org/10.4103/IJPM.IJPM_478_17DOI Listing
February 2019
4 Reads

The RET C611Y mutation causes MEN 2A and associated cutaneous

Endocr Connect 2018 Sep 1;7(9):998-1005. Epub 2018 Sep 1.

Background: Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in ‘MEN 2A with CLA’, one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back.

Patient Findings: This study reports a large south-eastern Chinese pedigree with 17 individuals carrying the MEN 2A-harboring germline C611Y (c.1832G>A) RET mutation by Sanger sequencing. Read More

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http://dx.doi.org/10.1530/EC-18-0220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176283PMC
September 2018
6 Reads

[Study of RET proto-oncogene mutations in two pedigrees affected with multiple endocrine neoplasia type 2A].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Oct;35(5):648-652

Department of Endocrinology, Guangdong Second Provincial General Hospital, Guangzhou, Guangdong 510370, China.

Objective: To study the pattern of RET proto-oncogene mutations in two pedigrees affected with multiple endocrine neoplasia type 2A (MEN2A).

Methods: Peripheral blood samples were collected from members of the two pedigrees, with total genomic DNA extracted for polymerase chain reaction (PCR). PCR products of 7 exons of the RET proto-oncogene (including exons 8, 10, 11, 13, 14, 15, 16) which have higher mutation rates were purified and subjected to direct sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.05.006DOI Listing
October 2018
14 Reads

Invited Commentary to Static Prognostic Factors and Appropriate Surgical Designs of Patients with MTC: The 2nd Report of a Single-Institution Study in Japan.

Authors:
James C Lee

World J Surg 2018 12;42(12):3967-3968

Department of Surgery, Monash University Central Clinical School, Melbourne, Australia.

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http://dx.doi.org/10.1007/s00268-018-4793-5DOI Listing
December 2018
6 Reads

[Germline gene testing of the RET, VHL, SDHD and SDHB genes in patients with pheochromocytoma/paraganglioma].

Beijing Da Xue Xue Bao Yi Xue Ban 2018 Aug;50(4):634-639

Department of Endocrinology, Peking University First Hospital, Beijing 100034, China.

Objective: To analyze the germline variations of genes RET, VHL, SDHD and SDHB in patients with pheochromocytoma and/or paraganglioma and to evaluate variations of these genes in Chinese patients.

Methods: Patients who were treated in Peking University First Hospital from September 2012 to March 2014 and diagnosed with pheochromocytoma and/or paraganglioma by pathologists were included in this study. Twelve patients were included in total, of whom 11 had pheochromocytoma, and 1 had paraganglioma. Read More

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August 2018
2 Reads

Use of Dexmedetomidine in a Parturient With Multiple Endocrine Neoplasia Type 2A Undergoing Adrenalectomy and Thyroidectomy: A Case Report.

A A Pract 2019 Mar;12(5):136-140

From the Departments of Anesthesiology.

Dexmedetomidine is a selective α2-agonist, frequently used in perioperative medicine as anesthesia adjunct. The medication carries a Food and Drug Administration pregnancy category C designation and is therefore rarely used for parturients undergoing nonobstetric surgery. We are reporting the use of dexmedetomidine in the anesthetic management of a parturient undergoing minimally invasive unilateral adrenalectomy for pheochromocytoma during the second trimester of pregnancy. Read More

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http://dx.doi.org/10.1213/XAA.0000000000000861DOI Listing
March 2019
6 Reads

Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid Carcinoma.

J Endocr Soc 2018 Aug 13;2(8):933-943. Epub 2018 Jul 13.

Endocrine Practice Heidelberg, Molecular Genetic Laboratory, Heidelberg, Germany.

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant hereditary cancer syndrome caused by missense gain-of-function mutations in the proto-oncogene on chromosome 10. Specific mutations can predispose toward a particular phenotype and clinical course, with strong genotype-phenotype correlations. MEN2 is highly penetrant in medullary thyroid carcinoma (MTC), and it can be associated with bilateral pheochromocytoma and primary hyperparathyroidism. Read More

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http://dx.doi.org/10.1210/js.2018-00178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6065486PMC
August 2018
17 Reads

The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis.

Endocr Connect 2018 Jul 26. Epub 2018 Jul 26.

J Zhao, Department of Head and Neck Surgery, Zhejiang Cancer Hospital, Hangzhou , China.

Background: Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in 'MEN 2A with CLA', one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back.

Patient Findings: This study reports a large south-eastern Chinese pedigree with 17 individuals carrying the MEN 2A-harbouring germline C611Y (c.1832G>A) RET mutation by Sanger sequencing. Read More

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http://dx.doi.org/10.1530/EC-18-0220DOI Listing
July 2018
3 Reads

Utilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single-Center Experience.

J Genet Couns 2018 Dec 27;27(6):1411-1416. Epub 2018 Jun 27.

Genetics Department, Southern California Kaiser Permanente, 6041 Cadillac Ave, Los Angeles, CA, 90034, USA.

Medullary thyroid carcinoma (MTC) is often due to the hereditary condition multiple endocrine neoplasia type 2 (MEN2) and it is standard of care to offer genetic testing to all diagnosed patients. This study used the Kaiser Permanente integrated medical record system to identify patients at risk for MEN2, assess adherence to clinical practice guidelines, and offer genetic counseling and testing. A query of the electronic medical records system identified patients with MTC. Read More

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http://dx.doi.org/10.1007/s10897-018-0273-1DOI Listing
December 2018
18 Reads

Update on multiple endocrine neoplasia Type 1 and 2.

Presse Med 2018 Sep 13;47(9):722-731. Epub 2018 Jun 13.

Centre hospitalier de Saint-Denis, service d'endocrinologie, 2, rue du Docteur-Delafontaine, BP 279, 93205 Saint-Denis cedex, France. Electronic address:

Multiple endocrine neoplasia type 1 is a rare genetic syndrome, characterized by the co-occurrence, in the same individual or in related individuals of the same family, of hyperparathyroidism, duodenopancraetic neuroendocrine tumors, pituitary adenomas, adrenocortical tumors, and neuroendocrine tumors (carcinoids) in the thymus, the bronchi, or the stomach. Multiple endocrine neoplastic type 2 is a rare genetic syndrome, characterized by the familial occurrence of medullary thyroid carcinoma either isolated or associated with pheochromocytoma, primary hyperparathyroidism, or typical features (Marfanoid habitus, mucosal neuromas). Subjects with clinical MEN1 and those who carry a mutation in the MEN1 gene should be offered biochemical and imaging screening in order to detect tumors and evaluate their progression over time. Read More

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http://dx.doi.org/10.1016/j.lpm.2018.03.005DOI Listing
September 2018
29 Reads

Quality of life in multiple endocrine neoplasia type 2A compared with normative and disease populations.

Surgery 2018 09 11;164(3):546-552. Epub 2018 Jun 11.

Northwestern University Feinberg School of Medicine, Department of Surgery, Chicago, IL, USA. Electronic address:

Background: Patient-reported outcomes are measured in chronic disease states to inform intervention and management decisions while minimizing negative outcomes. We hypothesized that health-related quality of life in patients with multiple endocrine neoplasia type 2A would be worse than the general US population but similar to other chronic diseases.

Methods: Adults ≥18 years with multiple endocrine neoplasia type 2A were recruited to complete the Patient-Reported Outcomes Measurement Information System 29-item questionnaire (n = 45). Read More

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http://dx.doi.org/10.1016/j.surg.2018.04.036DOI Listing
September 2018
20 Reads

Secondary findings from next-generation sequencing: what does actionable in childhood really mean?

Genet Med 2019 01 6;21(1):124-132. Epub 2018 Jun 6.

Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada.

Purpose: We aimed to assess the definition of actionability of secondary findings in childhood, using a screening framework.

Methods: For 31 disorders on the American College of Medical Genetics and Genomics SF v.2. Read More

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http://dx.doi.org/10.1038/s41436-018-0034-4DOI Listing
January 2019
2 Reads

A case of pheochromocytoma with negative MIBG scintigraphy, PET-CT and genetic tests (VHL included) and a rare case of post-operative erectile dysfunction.

Hormones (Athens) 2018 Jun 2;17(2):279-284. Epub 2018 Jun 2.

Unit of Endocrinology and Diabetes, Department of Medicine, University Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, Rome, Italy.

Background: Pheochromocytoma (Ph) is a rare catecholamine-secreting neuroendocrine tumour that arises from the chromaffin cells of the adrenal medulla. Ph usually presents with symptoms including paroxysmal headache, sweating, palpitations, and hypertension.

Clinical Case: During a computed tomography (CT) scan in a normotensive 49-year-old man, an incidentaloma of 4. Read More

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http://dx.doi.org/10.1007/s42000-018-0037-1DOI Listing
June 2018
22 Reads
1.237 Impact Factor

Reply to: Genotype-Phenotype Pancreatic Neuroendocrine Tumor Relationship in Multiple Endocrine Neoplasia Type 1 Patients: A 23 Year Experience at a Single Institution.

Surgery 2018 06;163(6):1325-1329

Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX. Electronic address:

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http://dx.doi.org/10.1016/j.surg.2018.02.019DOI Listing
June 2018
4 Reads

Genotypic characteristics and their association with phenotypic characteristics of hereditary medullary thyroid carcinoma in Korea.

Surgery 2018 08 17;164(2):312-318. Epub 2018 May 17.

Department of Surgery, Yonsei University College of Medicine, Seoul, Korea.

Background: Hereditary medullary thyroid carcinoma can present as a part of multiple endocrine neoplasia syndrome by rearranged during transfection gene mutation. We evaluated the prevalence of rearranged during transfection gene mutation in patients who have medullary thyroid carcinoma and the correlations of genotype with medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism according to the revised American Thyroid Association risk level.

Methods: A total of 331 patients were diagnosed with medullary thyroid carcinoma, 172 of whom were tested for the rearranged during transfection germline mutation by sequencing of exon 8, 10, 11, and 13-16. Read More

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http://dx.doi.org/10.1016/j.surg.2018.03.018DOI Listing
August 2018
21 Reads

Over-diagnosis of potential malignant behavior in MEN 2A-associated pheochromocytomas using the PASS and GAPP algorithms.

Langenbecks Arch Surg 2018 Sep 19;403(6):785-790. Epub 2018 May 19.

Department of Oncology-Pathology, Karolinska Institutet, CCK, Karolinska University Hospital, R8:04, 171 76, Solna, Stockholm, Sweden.

Purpose: Pheochromocytomas (PCCs) exhibit malignant potential, but current histological modalities for the proper detection of aggressive behavior are debated. The two most widespread algorithms are the "Pheochromocytoma of the Adrenal Gland Scaled Score" (PASS) and the "Grading System for Adrenal Pheochromocytoma and Paraganglioma" (GAPP), both which mostly rely on histological parameters to identify PCC patients at risk of disseminated disease. Since the algorithms are derived from studies using predominantly sporadic PCCs, little is known whether the PASS or GAPP scores can predict malignant potential in hereditary cases. Read More

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http://dx.doi.org/10.1007/s00423-018-1679-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6153590PMC
September 2018
4 Reads

Intraocular metastasis of medullary thyroid carcinoma investigated by transscleral fine-needle aspiration. A case report and review of the literature.

Diagn Cytopathol 2018 Sep 16;46(9):764-768. Epub 2018 Apr 16.

Department of Pathology, Institut Curie, Paris, France.

Medullary thyroid carcinoma occurs in a sporadic setting and may also be inherited in an autosomal dominant fashion, which is related with germline mutations of the RET gene. Metastases are often present at the time of a diagnosis-most frequently within the cervical lymph nodes, followed by the liver, lungs, and bones. Intraocular metastases are extremely rare. Read More

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http://doi.wiley.com/10.1002/dc.23945
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http://dx.doi.org/10.1002/dc.23945DOI Listing
September 2018
8 Reads

Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2.

Br J Surg 2018 09 17;105(10):1319-1327. Epub 2018 Apr 17.

Division of Endocrine Surgery, University College Hospital and Great Ormond Street Hospital, London, UK.

Background: In patients with multiple endocrine neoplasia type 2 (MEN2) syndrome, genetic testing offers early diagnosis, stratifies the risk of developing medullary thyroid cancer (MTC) and informs the timing of thyroidectomy. The efficacy of treatment, which depends on timely and safe surgery, is not well established.

Methods: This was a retrospective review of diagnostic and clinicopathological outcomes of prophylactic thyroidectomy in children with MEN2 between 1995 and 2013 in the UK. Read More

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http://dx.doi.org/10.1002/bjs.10856DOI Listing
September 2018
11 Reads

[Molecular Targeted Therapies for Hereditary Cancer Syndrome].

Gan To Kagaku Ryoho 2018 Apr;45(4):587-592

Division of Medical Oncology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University.

Development of molecular targeted drugs has achieved remarkable improvement of systemic cancer therapy. Recently, the several molecular targeted drugs have become available which associated with the status of responsible genes for hereditary cancer syndrome. These drugs would allow to establish specific strategy for hereditary cancer syndrome or sporadic cancers with similar biological phenotype with hereditary cancer. Read More

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April 2018
6 Reads

Concurrent primary hyperparathyroidism and pheochromocytoma in a Chinese lady with neurofibromatosis type 1.

Endocrinol Diabetes Metab Case Rep 2018 28;2018. Epub 2018 Mar 28.

Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Kowloon, Hong Kong SAR.

We report a case of elderly Chinese lady with neurofibromatosis type-1 presenting with longstanding palpitation, paroxysmal hypertension and osteoporosis. Biochemical testing showed mild hypercalcaemia with non-suppressed parathyroid hormone level suggestive of primary hyperparathyroidism, and mildly elevated urinary fractionated normetanephrine and plasma-free normetanephrine pointing to a catecholamine-secreting pheochromocytoma/paraganglioma. Further scintigraphic investigation revealed evidence of a solitary parathyroid adenoma causing primary hyperparathyroidism and a left pheochromocytoma. Read More

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http://dx.doi.org/10.1530/EDM-18-0006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5881428PMC
March 2018
7 Reads

Metastatic pheochromocytoma in MEN 2A: A rare association.

BMJ Case Rep 2018 Mar 28;2018. Epub 2018 Mar 28.

Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

A 45-year-old woman was diagnosed as having multiple endocrine neoplasia type 2A in 2014. She had bilateral pheochromocytoma, medullary thyroid carcinoma and biopsy-proven cutaneous lichen amyloidosis in the interscapular area. She underwent bilateral adrenalectomy; following which, she achieved clinical and biochemical remission. Read More

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http://dx.doi.org/10.1136/bcr-2017-222758DOI Listing
March 2018
20 Reads

Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?

Hormones (Athens) 2017 Oct;16(4):423-428

1st Department of Internal Medicine, Laiko Hospital, Medical School, National and Kapodistrian University of Athens, 75 Mikras Asias Str., Goudi, 11527, Athens, Greece.

Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor hereditary in 35% of cases. The most common syndromic form is in the context of the multiple endocrine neoplasia type 2 (MEN 2) syndromes in association with other tumors and due to germline RET mutations. We describe a 57-year-old female patient diagnosed with sporadic MTC. Read More

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http://dx.doi.org/10.14310/horm.2002.1763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341468PMC
October 2017
21 Reads

Loss of Chromatin-Remodeling Proteins and/or CDKN2A Associates With Metastasis of Pancreatic Neuroendocrine Tumors and Reduced Patient Survival Times.

Gastroenterology 2018 06 2;154(8):2060-2063.e8. Epub 2018 Mar 2.

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania. Electronic address:

Despite prognostic grading and staging systems, it is a challenge to predict outcomes for patients with pancreatic neuroendocrine tumors (PanNETs). Sequencing studies of PanNETs have identified alterations in death domain-associated protein (DAXX) and alpha-thalassemia/mental retardation X-linked chromatin remodeler (ATRX). In tumors, mutations in DAXX or ATRX and corresponding loss of protein expression correlate with shorter times of disease-free survival and disease-specific survival of patients. Read More

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http://dx.doi.org/10.1053/j.gastro.2018.02.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985217PMC
June 2018
24 Reads

Medullary Thyroid Carcinoma: Survival Analysis and Evaluation of Mutation-Specific Immunohistochemistry in Detection of Sporadic Disease.

World J Surg 2018 05;42(5):1432-1439

University of Sydney Endocrine Surgical Unit, Suite 202, AMA House, 69 Christie St, St Leonards, Sydney, NSW, 2065, Australia.

Introduction: Medullary thyroid cancer (MTC) is a rare tumour of neuroendocrine origin with a more aggressive profile than differentiated thyroid cancer. Familial cases of MTC are associated with RET mutations whilst RAS mutations appear to be a frequent finding in RET negative tumours. The aims of this study were to analyse survival outcomes in MTC and to evaluate the role of RAS immunohistochemistry in the identification of sporadic disease. Read More

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http://dx.doi.org/10.1007/s00268-018-4551-8DOI Listing
May 2018
8 Reads

Multiple endocrine neoplasia 2A (MEN 2A) syndrome.

Authors:
J Breza J Breza

Bratisl Lek Listy 2018 ;119(2):120-125

Introduction: In the MEN 2A syndrome, which is the most common of the three types of MEN, three endocrine systems are affected simultaneously or subsequently by the development of tumours manifested by medullary thyroid gland carcinoma, pheochromocytoma (often bilateral) and hyperparathyroidism.

Material And Methods: 27 patients from 3 families affected by MEN 2A syndrome were examined clinically (by detecting the effects of catecholamine overproduction), biochemically (screening for metanephrine and normetanephrine in the serum), visualization (CT, MRI, MIBG, PET CT) and some of them also genetically (DNA fragment analysis obtained by PCR amplification).

Results: Familial incidence of pheochromocytoma was confirmed in 10 patients (4 males, 5 females and one girl) aged 6 to 54 years (average 22. Read More

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http://dx.doi.org/10.4149/BLL_2018_034DOI Listing
June 2018
7 Reads

The Clinical Spectrum of Multiple Endocrine Neoplasia Type 2A with Cutaneous Lichen Amyloidosis in Ethnic Han Chinese.

Cancer Invest 2018 Feb 8;36(2):141-151. Epub 2018 Feb 8.

d Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College , Nanjing , Jiangsu , China.

This study systematically reviewed previous literatures and analyzed the genotype-phenotype relationship between the multiple endocrine neoplasia type 2A (MEN 2A)-cutaneous lichen amyloidosis (CLA) and RET/OSMR/IL31RA mutations. RET/OSMR/IL31RA screening was performed on 8 RET-carriers from 3 independent Chinese MEN 2A families. Besides, 51 MEN 2A-CLA patients in 116 RET carriers from literatures were clustered and analyzed. Read More

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http://dx.doi.org/10.1080/07357907.2018.1430813DOI Listing
February 2018
21 Reads

A Homozygous RET K666N Genotype With an MEN2A Phenotype.

J Clin Endocrinol Metab 2018 04;103(4):1269-1272

Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas, MD Anderson Cancer Center, Houston, Texas.

Context: Germline RET K666N mutation has been described as a pathogenic mutation with low disease penetrance for medullary thyroid cancer (MTC) without other features of multiple endocrine neoplasia type 2A. We describe a patient with homozygous RET K666N mutation with MTC and bilateral pheochromocytoma (PHEO).

Case Description: A 59-year-old woman received a diagnosis of MTC after biopsy of two thyroid nodules. Read More

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http://dx.doi.org/10.1210/jc.2017-02402DOI Listing
April 2018
5 Reads

[A comparison of clinical characteristics between 2 pedigrees of multiple endocrine neoplasia type 2A with different RET mutations].

Zhonghua Nei Ke Za Zhi 2018 Feb;57(2):134-137

Department of Endocrinology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China.

Multiple endocrine neoplasia type 2A (MEN2A) is a hereditary syndrome. Here, two different RET proto-oncogen mutation were identified from family members of two MEN2A pedigrees by genetic screening. One RET mutations were found at codons 1893 and 1895 in exon 11 (1893-1895delCGA) from pedigree 1, which is a novel mutation, the other occurs at codon 634 (Cys634Arg) in exon 11 from pedigree 2. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2018.02.010DOI Listing
February 2018
11 Reads

Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.

J Endocrinol Invest 2018 Oct 2;41(10):1149-1157. Epub 2018 Feb 2.

Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus.

Purpose: Multiple endocrine neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refers to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017.

Methods And Patients: Forty patients underwent RET testing by Sanger sequencing of exons 10-11 and 13-16. Read More

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http://dx.doi.org/10.1007/s40618-018-0841-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182349PMC
October 2018
10 Reads
1.552 Impact Factor

Modifying impact of gene haplotypes on medullary thyroid carcinoma clinical course.

Endocr Relat Cancer 2018 04 31;25(4):421-436. Epub 2018 Jan 31.

Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.

The clinical course of medullary thyroid carcinoma (MTC) associated with the MEN2A syndrome as well as of sporadic MTC shows considerable heterogeneity. The disease picture varies not only between the same proto-oncogene mutation carriers but also among sporadic MTC patients with no germinal mutations, which suggests the involvement of additional modulators of the disease. However, genetic factors responsible for this heterogeneity of the MTC clinical course still remain unknown. Read More

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http://dx.doi.org/10.1530/ERC-17-0452DOI Listing
April 2018
8 Reads

Preimplantation Genetic Diagnosis of Multiple Endocrine Neoplasia Type 2A Using Informative Markers Identified by Targeted Sequencing.

Thyroid 2018 03 1;28(3):281-287. Epub 2018 Mar 1.

1 Institute of Embryo-Fetal Original Adult Disease, School of Medicine, Shanghai Jiao Tong University School of Medicine , Shanghai, China .

Background: The revised guidelines for the management of medullary thyroid carcinoma recommend that genetic counseling regarding reproductive options, including preimplantation genetic diagnosis (PGD), be considered for all RET mutation carriers of reproductive age to avoid the transmission of multiple endocrine neoplasia type 2 (MEN2). However, the high complexity and cost of PGD have hindered its widespread use. Thus, it is necessary to establish a simple and relatively inexpensive method to facilitate the PGD of MEN2. Read More

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http://dx.doi.org/10.1089/thy.2017.0200DOI Listing
March 2018
12 Reads

[A Case of Rectal Cancer with Multiple Endocrine Neoplasia Type 2].

Gan To Kagaku Ryoho 2018 Jan;45(1):175-177

Dept. of Surgery, Kansai Rosai Hospital.

A 63-year-old man with multiple endocrine neoplasia type 2(MEN2)was admitted to the hospital because of positive fecal occult blood tests. Colonoscopy revealed a 50mm type 2 tumor at the rectum, which was diagnosed as an adenocarcinoma based on histology. Since there was no apparent distant metastasis, laparoscopy-assisted low anterior resection with regional lymph node dissection was performed. Read More

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January 2018
11 Reads

Non-mammalian models of multiple endocrine neoplasia type 2.

Endocr Relat Cancer 2018 02;25(2):T91-T104

Department of Cell Developmental and Regenerative Biology, School of Biomedical Sciences, Icahn School of Medicine, New York, New York, USA

Twenty-five years ago, RET was identified as the primary driver of multiple endocrine neoplasia type 2 (MEN2) syndrome. MEN2 is characterized by several transformation events including pheochromocytoma, parathyroid adenoma and, especially penetrant, medullary thyroid carcinoma (MTC). Overall, MTC is a rare but aggressive type of thyroid cancer for which no effective treatment currently exists. Read More

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http://dx.doi.org/10.1530/ERC-17-0411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5935467PMC
February 2018
8 Reads

Novel targeted therapeutics for MEN2.

Endocr Relat Cancer 2018 02;25(2):T53-T68

School of Medicine and SurgeryUniversity of Milano-Bicocca, Monza, Italy

The rearranged during transfection () proto-oncogene was recognized as the multiple endocrine neoplasia type 2 (MEN2) causing gene in 1993. Since then, much effort has been put into a clear understanding of its oncogenic signaling, its biochemical function and ways to block its aberrant activation in MEN2 and related cancers. Several small molecules have been designed, developed or redirected as RET inhibitors for the treatment of MEN2 and sporadic MTC. Read More

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https://erc.bioscientifica.com/view/journals/erc/25/2/ERC-17
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http://dx.doi.org/10.1530/ERC-17-0297DOI Listing
February 2018
6 Reads

The evolving clinical, genetic and therapeutic landscape of multiple endocrine neoplasia type 2.

Endocr Relat Cancer 2018 02;25(2):E1-E4

Division of Cancer Biology and GeneticsCancer Research Institute, and Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada

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http://dx.doi.org/10.1530/ERC-17-0488DOI Listing
February 2018
3 Reads

Extent of surgery for phaeochromocytomas in the genomic era.

Br J Surg 2018 01;105(2):e84-e98

Department of Clinical and Experimental Medicine, Faculty of Medicine and Health Sciences, Linköping University, Linköping, Sweden.

Background: Germline mutations are present in 20-30 per cent of patients with phaeochromocytoma. For patients who develop bilateral disease, complete removal of both adrenal glands (total adrenalectomy) will result in lifelong adrenal insufficiency with an increased risk of death from adrenal crisis. Unilateral/bilateral adrenal-sparing surgery (subtotal adrenalectomy) offers preservation of cortical function and independence from steroids, but leaves the adrenal medulla in situ and thus at risk of developing new and possibly malignant disease. Read More

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http://dx.doi.org/10.1002/bjs.10744DOI Listing
January 2018
13 Reads

Re: Genotype-phenotype pancreatic neuroendocrine tumor relationship in multiple endocrine neoplasia type 1 patients: a 23-year experience at a single institution.

Surgery 2018 06 12;163(6):1325-1329. Epub 2018 Jan 12.

Department of Endocrinology, VU University Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.surg.2017.12.012DOI Listing
June 2018
5 Reads

Prophylactic thyroidectomies in MEN2 syndrome: Management and outcomes.

J Pediatr Surg 2018 Feb 13;53(2):283-285. Epub 2017 Nov 13.

Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada; Department of Surgery, Division of Pediatric Surgery, CHU Sainte-Justine, Montreal, Quebec, Canada. Electronic address:

Aim Of The Study: The aim of the study was to evaluate the outcomes of prophylactic thyroidectomies performed in an academic setting in the context of multiple endocrine neoplasia type 2 (MEN2) syndrome.

Methods: A chart review of patients <18years old who underwent prophylactic thyroidectomy for a MEN2 syndrome at a children's hospital between 2006 and 2015 was performed.

Main Results: The study included 21 patients (57% female) with a mean age of 6. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2017.11.015DOI Listing
February 2018
13 Reads