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    1924 results match your criteria Multiple Endocrine Neoplasia Type 2

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    Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue.
    Horm Metab Res 2017 Nov 14;49(11):805-815. Epub 2017 Nov 14.
    Hospital das Clinicas, University of São Paulo School of Medicine Sao Paulo, Sao Paulo, Brazil.
    Six syndromes of familial hyperparathyroidism are compared: 1) Familial hypocalciuric hypercalcemia (FHH) expresses primary hyperparathyroidism (PHPT) beginning at birth with lifelong hypercalcemia. There is nonsuppressed PTH secretion from outwardly normal parathyroid glands. It reflects germline heterozygous mutation in CASR, GNA11, or AP2S1. Read More

    Patient quality of life and prognosis in MEN2.
    Endocr Relat Cancer 2017 Oct 24. Epub 2017 Oct 24.
    K Winter, Counselling, Association for Multiple Endocrine Neoplasia Disorders, Tunbridge Wells, United Kingdom of Great Britain and Northern Ireland.
    Multiple endocrine neoplasia type 2 (MEN2) refers to the autosomal dominant neuroendocrine tumour syndromes, MEN type 2A (MEN2A) and MEN type 2B (MEN2B). They are typified by the development of medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid hyperplasia in MEN2A, and MTC, phaeochromocytomas, ganglioneuromatosis and skeletal abnormalities in MEN2B. The aggressiveness of MTC is variable according to genotype, and although it is still the major cause of mortality in both conditions, prognosis has improved dramatically in those diagnosed and treated at a young age thanks to predictive genetic testing. Read More

    Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome.
    JAMA Dermatol 2017 Oct 18. Epub 2017 Oct 18.
    Department of Dermatology, Fundación Jiménez Diaz, Universidad Autónoma, Madrid, Spain.
    Importance: Multiple endocrine neoplasia type 2 (MEN 2) syndrome is an autosomal dominant, hereditary cancer disorder caused by germline mutations in the RET (formerly MEN2A, MEN2B) proto-oncogene located on chromosomal band 10q11.21. Two distinct clinical forms have been described as the following phenotypes: multiple endocrine neoplasia type 2A (MEN 2A) and multiple endocrine neoplasia type 2B (MEN 2B) syndromes. Read More

    Detection of early stage medullary thyroid carcinoma by measuring serum calcitonin using an electro chemiluminescence immuno-assay: A case report of a young Japanese woman with a high-risk RET mutation.
    Clin Pediatr Endocrinol 2017 28;26(4):243-249. Epub 2017 Sep 28.
    Department of Pediatrics, Niigata City General Hospital, Niigata, Japan.
    Medullary thyroid carcinoma (MTC) in multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder caused by the mutation of the RET proto-oncogene, that shows nearly complete penetration. The American Thyroid Association guidelines recommend prophylactic thyroidectomy for patients with high-risk RET mutations. However, in Japan, ethical and medical issues may preclude prophylactic treatment in young patients. Read More

    Positive Germline Selection in Pedigrees With Multiple Endocrine Neoplasia Type 2 Carrying V804M Mutation in the RET Gene.
    World J Oncol 2016 Dec 23;7(5-6):104-108. Epub 2016 Dec 23.
    Neuroscience Institute, Saint Francis Medical Center, 601 Hamilton Avenue, Trenton, NJ, USA.
    Background: Multiple endocrine neoplasia (MEN) type 2 is an autosomal dominant cancer syndrome associated with the development of thyroid cancer and tumors or hyperplasia in other endocrine organs. It is caused by mutations in the RET gene and can be phenotypically classified into MEN types 2A and 2B. MEN2B is often sporadic resulting from a spontaneous mutation, M981T. Read More

    Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
    Thyroid 2017 Nov 3. Epub 2017 Nov 3.
    3 Réseau TenGen , France .
    Background: The presence of single nucleotide polymorphisms (SNPs) in the REarranged during Transfection (RET) gene has been investigated with regard to their potential role in the development or progression of medullary thyroid cancer or pheochromocytomas (PHEO) in patients with the multiple endocrine neoplasia type 2 (MEN2) syndrome. The aim of this study was to evaluate the spectrum of RET variants in France between 2003 and 2013, and to evaluate the impact of SNPs on the MEN2 A phenotype.

    Methods: In this retrospective cohort study, RET variants were screened in 5109 index cases, and RET pathogenic variants were screened in 2214 relatives. Read More

    A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11.
    Oncol Lett 2017 Sep 15;14(3):3552-3558. Epub 2017 Jul 15.
    MyGenostics, Inc., Beijing 101318, P.R. China.
    The present study identified the clinical features of the largest multiple endocrine neoplasia type 2 (MEN2) A pedigree from China, with a novel double missense rearranged during transfection (RET) mutation (C634Y/D707E). To the best of our knowledge, the D707E mutation has not been identified to date. In the present study, a total of 101 family members who originated from a large pedigree (134 members in total) underwent RET mutation screening by next-generation sequencing and polymerase chain reaction (PCR) amplification, followed by direct bidirectional DNA sequencing. Read More

    Perioperative outcomes of syndromic paraganglioma and pheochromocytoma resection in patients with von Hippel-Lindau disease, multiple endocrine neoplasia type 2, or neurofibromatosis type 1.
    Surgery 2017 Dec 14;162(6):1259-1269. Epub 2017 Sep 14.
    Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, MN. Electronic address:
    Background: Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel-Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms.

    Methods: Retrospective review of patients undergoing resection of syndromic pheochromocytoma/paraganglioma from 2000 through 2016. Read More

    Advances in risk-oriented surgery for multiple endocrine neoplasia type 2.
    Endocr Relat Cancer 2017 Sep 7. Epub 2017 Sep 7.
    H Dralle, Department of General, Visceral and Transplantation Surgery, Section of Endocrine Surgery, Universitat Duisburg-Essen Medizinische Fakultat, Essen, Germany.
    Genetic association studies hinge on definite clinical case definitions of the disease of interest. This is why more penetrant mutations were overrepresented in early multiple endocrine neoplasia 2 (MEN2) studies, whereas less penetrant mutations went underrepresented. Enrichment of genetic association studies with advanced disease may produce a flawed understanding of disease evolution, precipitating far-reaching surgical strategies like bilateral total adrenalectomy and 4-gland parathyroidectomy in MEN2. Read More

    Bilateral pheochromocytoma with ganglioneuroma component associated with multiple neuroendocrine neoplasia type 2A: a case report.
    J Med Case Rep 2017 Aug 1;11(1):208. Epub 2017 Aug 1.
    Department of Pathology, Hassan II University Hospital, Fès, Morocco.
    Background: Composite pheochromocytoma/paragangliomas are very rare tumors composed of ordinary pheochromocytoma paragangliomas associated with neurogenic tumors. Several hereditary susceptibility disorders are known to be associated with pheochromocytoma/paragangliomas such as multiple endocrine neoplasia type 2 (2A or B). To the best of our knowledge, only four cases of composite pheochromocytoma/paragangliomas associated with multiple endocrine neoplasia type 2 have been reported. Read More

    No calcitonin change in a person taking dulaglutide diagnosed with pre-existing medullary thyroid cancer.
    Diabet Med 2017 Jul 29. Epub 2017 Jul 29.
    Eli Lilly and Company, Indianapolis, IN.
    Background: Glucagon-like peptide-1 receptor agonists, such as dulaglutide, exenatide and liraglutide, are approved to treat Type 2 diabetes mellitus. Although these drugs provide substantial glycaemic control, studies in rodents have prompted concerns about the development of medullary thyroid carcinoma. These data are reflected in the US package insert, with boxed warnings and product labelling noting the occurrence of these tumours after clinically relevant exposures in rodents, and contraindicating glucagon-like peptide-1 receptor agonist use in people with a personal or family history of medullary thyroid carcinoma or in people with multiple endocrine neoplasia type 2. Read More

    Clinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the D631Y RET Mutation.
    Thyroid 2017 Oct 5;27(10):1332-1334. Epub 2017 Sep 5.
    4 Division of Endocrinology, Department of Medicine, Mayo Clinic , Rochester, Minnesota.
    We describe a family with multiple endocrine neoplasia type 2A (MEN2A) caused by the D631Y RET mutation resulting in an atypical phenotype. The index case was a 24-year-old man with history of recurrent anaplastic ependymoma incidentally found to have the D631Y RET mutation. At first assessment, four family members had evidence of large pheochromocytomas. Read More

    Is new American Thyroid Association risk classification for hereditary medullary thyroid carcinoma applicable to Chinese patients? A single-center study.
    Chin J Cancer Res 2017 Jun;29(3):223-230
    Department of Head and Neck Surgical Oncology, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100021, China.
    Objective: The American Thyroid Association (ATA) proposed a new risk classification for hereditary medullary thyroid carcinoma (MTC) in 2015. This study aimed to assess whether the new guidelines are suitable for the Chinese population, and reported our experience on prophylactic thyroidectomy.

    Methods: A total of 73 patients from 22 families were screened as rearranged during transfection (RET) mutation carriers from 2010 to 2016 in Cancer Hospital, Chinese Academy of Medical Science; the medical history for each patient was collected. Read More

    Oncogenesis of Thyroid Cancer
    Asian Pac J Cancer Prev 2017 05 1;18(5):1191-1199. Epub 2017 May 1.
    King Hussein Cancer center (KHCC), Amman, Jordan. Email:
    Thyroid neoplasms encompass a variety of lesions that range from benign adenomas to malignancies. These latter can be well-differentiated, poorly differentiated or undifferentiated (anaplastic) carcinomas. More than 95% of thyroid cancers are derived from thyroid follicular cells, while 2-3% (medullary thyroid cancers, MTC) originate from calcitonin producing C-cells. Read More

    Medullary Thyroid Carcinoma in MEN2A: ATA Moderate- or High-Risk RET Mutations Do Not Predict Disease Aggressiveness.
    J Clin Endocrinol Metab 2017 Aug;102(8):2807-2813
    Department of Surgical Oncology, University of Texas, MD Anderson Cancer Center, Houston, Texas 77030.
    Context: High-risk RET mutations (codon 634) are associated with earlier development of medullary thyroid carcinoma (MTC) and presumed increased aggressiveness compared with moderate-risk RET mutations.

    Objective: To determine whether high-risk RET mutations are more aggressive.

    Design: Retrospective cohort study using institutional multiple endocrine neoplasia type 2 registry. Read More

    Phaeochromocytoma in multiple endocrine neoplasia type 2: RET codon-specific penetrance and changes in management during the last four decades.
    Clin Endocrinol (Oxf) 2017 Oct 30;87(4):320-326. Epub 2017 Jun 30.
    Endocrine Practice, Heidelberg, Germany.
    Objectives: We describe phaeochromocytoma (phaeo) penetrance in multiple endocrine neoplasia type 2 (MEN2) according to RET protooncogene-specific mutations and report changes in phaeo diagnosis and management from 1968 to 2015.

    Design: This retrospective chart review included 309 MEN2 patients from one specialized ambulatory care centre. Phaeo patients were categorized by diagnosis date: early, 1968-1996, n=40, and recent, 1997-2015, n=45. Read More

    Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing.
    J Biosci 2017 Jun;42(2):209-218
    Department of Oncologic and Urologic Surgery, Nanjing Military Command Hospital Center for Endocrine and Metabolic Diseases, Wenzhou Medical University, 40 Jichang Road, Hangzhou 310004,Zhejiang Province, China.
    Approximately 98% of patients with multiple endocrine neoplasia type 2A (MEN 2A) have an identifiable RET mutation. Prophylactic or early total thyroidectomy or pheochromocytoma/parathyroid removal in patients can be preventative or curative and has become standard management. The general strategy for RET screening on family members at risk is to sequence the most commonly affected exons and, if negative, to extend sequencing to additional exons. Read More

    Genetics of Multiple Endocrine Neoplasia Type 1/Multiple Endocrine Neoplasia Type 2 Syndromes.
    Endocrinol Metab Clin North Am 2017 Jun 18;46(2):491-502. Epub 2017 Mar 18.
    Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Houston, TX 77030, USA. Electronic address:
    Multiple endocrine neoplasia syndromes types 1 and 2 represent well-characterized yet clinically heterogeneous hereditary conditions for which diagnostic and management recommendations exist; genetic testing for these inherited endocrinopathies is included in these guidelines and is an important part of identifying affected patients and their family members. Understanding of these mature syndromes is challenged as more individuals undergo genetic testing and genetic data are amassed, with the potential to create clinical conundrums that may have an impact on individualized approaches to management and counseling. Clinicians who diagnose and treat patients with MEN syndromes should be aware of these possibilities. Read More

    Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.
    Clin Med Insights Endocrinol Diabetes 2017 20;10:1179551417705122. Epub 2017 Apr 20.
    Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
    Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. Read More

    The many guises of primary hyperparathyroidism: An unchanged scenario.
    J Pak Med Assoc 2017 Apr;67(4):580-585
    Medical Unit-II, Jinnah Postgraduate Medical Centre, Karachi, Pakistan.
    Objective: To study the causes, characteristics and outcome of treatment of patients with primary hyperparathyroidism.

    Methods: This retrospective cohort analysis was conducted at the Jinnah Postgraduate Medical Centre, Karachi, and comprised data of patients with primary hyperparathyroidism between 2004 and 2014. . Read More

    PRECISION MEDICINE: AN UPDATE ON GENOTYPE/BIOCHEMICAL PHENOTYPE RELATIONSHIPS IN PHEOCHROMOCYTOMA/PARAGANGLIOMA PATIENTS.
    Endocr Pract 2017 Jun 23;23(6):690-704. Epub 2017 Mar 23.
    Objective: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors known to produce and secrete high levels of circulating catecholamines and their metabolites. The biochemical characteristics of these tumors can be used to divide them into three major phenotypes. The adrenergic, noradrenergic and dopaminergic phenotypes are defined by predominant elevations in epinephrine and metanephrine, norepinephrine and normetanephrine, and dopamine and 3-methoxytyramine, respectively. Read More

    FDOPA Patterns in Adrenal Glands: A Pictorial Essay.
    Clin Nucl Med 2017 May;42(5):379-382
    From the *Service de Médecine Nucléaire, CHU; †Service de Médecine Nucléaire, CLB; ‡Service d'Endocrinologie, Groupement Hospitalier Est, CHU; §Service de Chirurgie Endocrinienne, Groupement Hospitalier Sud, CHU; ∥Unité de Dermatologie, CLB; and ¶EA 3637, Université de Lyon 1, Lyon, France.
    F-FDOPA is a well-established tool to explore pheochromocytomas. It tends to replace I-MIBG scan in metastatic pheochromocytomas, multiple endocrine neoplasia type 2-related tumors, succinate dehydrogenase [ubiquinone] iron-sulfur subunit-negative tumors, and succinate dehydrogenase[ZERO WIDTH SPACE]-positive lesions. To our knowledge, no study has characterized physiological and pathological adrenal glands with F-FDOPA from a quantitative point of view. Read More

    Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients.
    Thyroid 2017 May 4;27(5):693-706. Epub 2017 Apr 4.
    1 Endocrine Genetics Unit (LIM-25), Endocrinology Division, Hospital das Clínicas, University of São Paulo School of Medicine , São Paulo, Brazil .
    Background: Data on psychological harm in multiple endocrine neoplasia type 2 (MEN2) are scarce.

    Objectives: The aim of this study was to assess anxiety, depression, quality of life, and coping in long-standing MEN2 patients.

    Patients And Methods: Patients were 43 adults (age ≥18 years) with clinical and genetic diagnosis of MEN2 and long-term follow-up (10. Read More

    [Clinical features and mutations of RET proto-oncogene in a pedigree affected with type 2A multiple endocrine neoplasia].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Feb;34(1):106-109
    Department of Endocrinology and Metabolism, Huai'an Second People's Hospital, Huai'an, Jiangsu 223002, China.
    Objective: To investigate the clinical features and mutations of RET proto-oncogene in a pedigree affected with multiple endocrine neoplasia type 2A (MEN2A).

    Methods: Clinical data of the family members was collected. Genomic DNA from peripheral blood leukocytes were extracted and subjected to PCR amplification. Read More

    Search of the p.M918T Mutation in the RET Oncogene in Mexican Adult Patients with Medullary Thyroid Carcinoma.
    Exp Clin Endocrinol Diabetes 2017 Apr 6;125(4):218-222. Epub 2017 Feb 6.
    Head and Neck Cancer Deparment, National Cancer Institute, Mexico City.
    Inherited mutations in the RET proto-oncogene, which encodes a receptor tyrosine kinase, predispose individuals to the multiple endocrine neoplasia type 2 (MEN 2) cancer syndromes. The major component tumor of these syndromes is medullary thyroid carcinoma (MTC). To date, somatic mutations in RET have been identified in tumors from individuals with MEN 2 finding. Read More

    Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A.
    Eur J Endocrinol 2017 May 30;176(5):515-519. Epub 2017 Jan 30.
    Departments of Medicine
    Objectives: About one-quarter of patients with medullary thyroid cancer (MTC) have inherited disease due to mutations in the RET gene. A rare mutation in exon 8 (G533C) of RET, previously described in a large Brazilian family with MEN2A, also appeared to be clustering in Greece, whereas it was rarely reported in other ethnic groups. The aim of this study was to identify a possible common ancestry between these carriers. Read More

    MiR-182 promotes cancer invasion by linking RET oncogene activated NF-κB to loss of the HES1/Notch1 regulatory circuit.
    Mol Cancer 2017 Jan 26;16(1):24. Epub 2017 Jan 26.
    Institute of Experimental Gene Therapy and Cancer Research, Rostock University Medical Center, Schillingallee 69, 18057, Rostock, Germany.
    Background: Dominant-activating mutations in the RET proto-oncogene, a receptor tyrosine kinase, are responsible for the development of medullary thyroid carcinoma (MTC) and causative for multiple endocrine neoplasia (MEN) type 2A and 2B. These tumors are highly aggressive with a high propensity for early metastasis and chemoresistance. This attribute makes this neoplasia an excellent model for probing mechanisms underlying cancer progression. Read More

    Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families.
    Medicine (Baltimore) 2017 Jan;96(3):e5967
    aDepartment of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, PR China bDepartment of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, PA.
    Backgroud: Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. Little is reported about MEN2A syndrome in the Chinese population.

    Methods: All members of the 3 families along with specific probands of MEN2A were analyzed for their clinical, laboratory, and genetic characteristics. Read More

    Disease-modifying polymorphisms and C609Y mutation of RET associated with high penetrance of phaeochromocytoma and low rate of MTC in MEN2A.
    Endocrinol Diabetes Metab Case Rep 2016 25;2016. Epub 2016 Nov 25.
    Departments of Oncology and Metabolism, University of Sheffield; Endocrinology.
    Mutations of the rearranged during transfection (RET) proto-oncogene, located on chromosome 10q11.2, cause multiple endocrine neoplasia type 2A (MEN2A). Patients with mutations at the codon 609 usually exhibit a high penetrance of medullary thyroid cancer (MTC), but a sufficiently low penetrance of phaeochromocytoma that screening for this latter complication has been called to question. Read More

    Anesthetic Management of Clinically Silent Familial Pheochromocytoma with MEN 2A: A Report of Four Cases.
    Indian J Surg 2016 Oct 15;78(5):414-417. Epub 2016 Aug 15.
    Department of Anesthesia, V.M.M.C. and Safdarjung Hospital, A7/14 Mianwali Nagar Paschim Vihar, New Delhi, 110087 India.
    Familial pheochromocytomas are commonly associated with multiple endocrine neoplasia type 2 (MEN 2) syndrome. Majority of the patients present with normal clinical and biochemical parameters in the preoperative period, the incidence of hypertension being only 50 %. Even though patients may be clinically asymptomatic, surveillance and proper preoperative evaluation is important, as surgery for associated tumors may precipitate a hypertensive crisis and result in severe complications. Read More

    Genetic predisposition to endocrine tumors: Diagnosis, surveillance and challenges in care.
    Semin Oncol 2016 Oct 21;43(5):582-590. Epub 2016 Sep 21.
    Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan Health System, Ann Arbor, MI. Electronic address:
    Endocrine tumor syndromes, eg, multiple endocrine neoplasia types 1 and 2, were among the first recognized hereditary predisposition syndromes to tumor development. Over time, the number of endocrine tumor syndromes has significantly expanded, eg, with the recent inclusion of hereditary paraganglioma syndromes. Associations of non-endocrine tumors with hereditary endocrine tumor syndromes and endocrine tumors with non-classical endocrine tumor syndromes have emerged. Read More

    [Study of Medullary Thyroid Carcinoma from a proband].
    Arch Argent Pediatr 2016 Dec;114(6):e421-e424
    Hospital Universitario Miguel Servet, Servicio de Endocrinología Pediátrica, Zaragoza, España.
    Thyroid cancer is an uncommon type of cancer, accounting less than 1% of all cancers in adults, and 0.5-3% of all cancers in children. There are four different types: papillary carcinoma (80-90% of cases), follicular (5-10%), medullary (5%) and anaplastic cell (2-3%). Read More

    All in the family? Analyzing the impact of family history in addition to genotype on medullary thyroid carcinoma aggressiveness in MEN2A patients.
    Fam Cancer 2017 Apr;16(2):283-289
    Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Houston, TX, 77030, USA.
    Several guidelines for patients with multiple endocrine neoplasia 2A (MEN2A) take into account genotype and family history of medullary thyroid carcinoma (MTC) disease aggressiveness. We sought to determine if an association exists independent of genotype, which could provide important information for counseling MEN2A patients in management of their MTC. Pedigrees of patients with ≥5 family members with MEN2A were retrospectively reviewed. Read More

    A rare missense variant in RET exon 8 in a Portuguese family with atypical multiple endocrine neoplasia type 2A.
    Hormones (Athens) 2016 Jul;15(3):435-440
    Faculdade de Medicina, Universidade de Lisboa, Genomed, Instituto de Medicina Molecular, Centro Académico de Medicina de Lisboa; Lisboa, Portugal.
    Background And Objective: Multiple Endocrine Neoplasia type 2 (MEN2) is a rare genetic disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism. MEN2 is an autosomal dominant syndrome caused by mutations in the RET proto-oncogene. In the vast majority of patients, the mutations are localized in exons 10, 11 and 13-15 of the RET gene. Read More

    Recurrence of phaeochromocytoma in pregnancy in a patient with multiple endocrine neoplasia 2A: a case report and review of literature.
    Gynecol Endocrinol 2016 Nov 3;32(11):875-880. Epub 2016 Nov 3.
    d Consultant in Obstetrics and Gynaecology, Wrexham Maelor Hospital , Wales , UK.
    Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant inherited condition with a prevalence of one in 40 000 individuals. It causes the development of tumours in endocrine glands, such as medullary thyroid cancer, pheochromocytomas, as well as primary hyperparathyroidism. MEN 2A in pregnancy is very rare with only 29 cases reported in the literature. Read More

    Surgery in MEN 2A Patients Older Than 5 Years with Micro-MTC: Outcome at Long-term Follow-up.
    Otolaryngol Head Neck Surg 2016 Nov 12;155(5):787-789. Epub 2016 Jul 12.
    Department of Surgery and Translational Medicine, Medical School, and Regional Centre for Hereditary Endocrine Tumors, University of Florence, Florence, Italy.
    In multiple endocrine neoplasia syndrome type 2A (MEN 2A), early total thyroidectomy (TT; performed before the age of 5 years) is the best option to prevent medullary thyroid carcinoma (MTC) development, but the management of MEN 2A patients diagnosed after childhood is still under debate. Seventeen consecutive patients diagnosed with MEN 2A after the age of 5 years (mean age, 23.3 years) with a pathologic diagnosis of micro-MTC without nodal involvement were enrolled. Read More

    Multifocality in Sporadic Medullary Thyroid Carcinoma: An International Multicenter Study.
    Thyroid 2016 Nov 11;26(11):1563-1572. Epub 2016 Oct 11.
    16 Veracyte, Inc. , South San Francisco, California.
    Background: Current surgical standard of care in sporadic medullary thyroid carcinoma (sMTC) consists of a minimum of total thyroidectomy with central neck dissection. Some have suggested thyroid lobectomy with isthmusectomy and central neck dissection for patients with sMTC, given their lower frequency of bilateral disease, although this topic has not been thoroughly studied. This study assessed the prevalence of multifocality in sMTC via a large international multi-institutional retrospective review to quantify this prevalence, including the impact of geography, to assess more accurately the risks associated with alternative surgical approaches. Read More

    Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1.
    Clin Endocrinol (Oxf) 2017 Mar 5;86(3):332-339. Epub 2016 Dec 5.
    Division of Endocrinology, Department of Medicine, Centre de Recherche du Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.
    Introduction: Guidelines do not currently recommend routine systematic hormonal screening for pheochromocytoma (PHEO) in all/normotensive patients with neurofibromatosis type 1 (NF1), in contrast to other PHEO-predisposing genetic syndromes such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2.

    Objectives: To characterize and compare parameters of PHEO in patients with NF1 to patients with or without other germline mutations.

    Methods: A retrospective chart review of patients with histologically proven PHEO at the Centre hospitalier de l'Université de Montréal from 2000 through 2015. Read More

    From the laboratory bench to the operating room: the role of the surgeon in cancer prevention.
    Am J Surg 2016 Dec 30;212(6):1035-1038. Epub 2016 Sep 30.
    Division of Surgical Oncology, Department of Surgery, Baylor Scott & White Health, Texas A&M University Health Science Center, MS-01-730C, 2401 South 31st Street, Temple, TX 76508, USA. Electronic address:
    Background: The last 200 years have seen remarkable achievements in the art and clinical practice of surgery. These advances include the introduction of antisepsis, anesthesia, vascular anastomosis, antimicrobials, organ transplantation, and the widespread application of minimally invasive operative procedures. Very recently, a surgical procedure has been shown to cure diabetes, representing the most effective treatment of a metabolic disorder by surgeons. Read More

    Medullary Thyroid Carcinoma Associated with Germline RET(K666N) Mutation.
    Thyroid 2016 Dec 18;26(12):1744-1751. Epub 2016 Oct 18.
    1 Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas MD Anderson Cancer Center , Houston, Texas.
    Background: Multiple endocrine neoplasia type 2 is an autosomal dominant inherited syndrome caused by activating mutations in the RET proto-oncogene. The RET(K666N) DNA variant was previously reported in two isolated medullary thyroid carcinoma (MTC) cases, but no family studies are available, and its oncogenic significance remains unknown.

    Methods: The clinical features, genetic data, and family information of eight index MTC patients with a germline RET(K666N) variant were assessed. Read More

    [Multiple Endocrine Neoplasia I (Wermers Syndrome), Forms of Clinical Manifestation, 5 Case Studies].
    Vnitr Lek Fall 2016;62(9 Suppl 3):140-149
    Multiple Endocrine Neoplasia (MEN) is a condition in which several endocrine organs of an individual are affected by adenoma, hyperplasia and less often carcinoma, either simultaneously or at different stages of life. Two existing syndromes, MEN1 and MEN2 (2A, 2B), in literature is also mentioned MEN4, are associated also with other non-endocrine disorders. MEN1 (Wermer syndrome) affects the pituitary, parathyroid, and pancreatic area. Read More

    Composite paraganglioma-ganglioneuroma concomitant with adrenal metastasis of medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 2B: A case report.
    Asian J Endosc Surg 2017 Feb 5;10(1):66-69. Epub 2016 Oct 5.
    Department of Urology, Oita University Faculty of Medicine, Yufu, Japan.
    Multiple endocrine neoplasia type 2 (MEN2) is an autosomal-dominant cancer syndrome with major components of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. MEN2B is the most aggressive and rarest of the MEN2 variants. Pheochromocytoma in MEN2 is virtually always located in the adrenal medulla, but MEN2-associated extra-adrenal pheochromocytomas (paraganglioma) are rare. Read More

    The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.
    Endocr Pathol 2017 Mar;28(1):41-48
    Cancer Genetics, Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London, London, UK.
    The REarranged during Transfection (RET) proto-oncogene is a receptor tyrosine kinase involved in growth and differentiation during embryogenesis and maintenance of the urogenital and nervous systems in mammals. Distinct mutations across hotspot RET exons can cause Multiple Endocrine Neoplasia Type 2A (MEN2A) characterised by development of medullary thyroid cancer (MTC), phaeochromocytoma (PCC) and primary hyperparathyroidism (PHPT), with a strong correlation between genotype and phenotype. Here, we report a 42-year-old man presented in the clinic with a unilateral PCC, with subsequent investigations revealing a nodular and cystic thyroid gland. Read More

    Genetic analysis and clinical investigation of a pedigree with multiple endocrine neoplasia type 2A: A case report.
    Oncol Lett 2016 Oct 16;12(4):2657-2659. Epub 2016 Aug 16.
    Department of Endocrinology and Metabolism, Institute of Endocrinology, Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning 110001, P.R. China.
    Multiple endocrine neoplasia 2A (MEN2A) is characterized by the coexistence of tumors that involve two or more endocrine glands within the same patient, and is defined as the occurrence of medullary thyroid carcinoma in association with pheochromocytoma (PHEO) and parathyroid tumors or hyperparathyroidism. The pathogenesis of MEN2A is due to the mutation of a tyrosine kinase receptor that is encoded by the rearrangement during transfection (RET) proto-oncogene. The mutation often occurs in exon 10q11. Read More

    New insights into the pathophysiology of achalasia and implications for future treatment.
    World J Gastroenterol 2016 Sep;22(35):7892-907
    Janette Furuzawa-Carballeda, Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, CP 14080, Mexico.
    Idiopathic achalasia is an archetype esophageal motor disorder, causing significant impairment of eating ability and reducing quality of life. The pathophysiological underpinnings of this condition are loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter (LES). The clinical manifestations include dysphagia for both solids and liquids, regurgitation of esophageal contents, retrosternal chest pain, cough, aspiration, weight loss and heartburn. Read More

    Recurrent hyperparathyroidism due to proliferation of autotransplanted parathyroid tissue in a multiple endocrine neoplasia type 2A patient.
    Ann Surg Treat Res 2016 Sep 29;91(3):145-8. Epub 2016 Aug 29.
    Department of Surgery, Daejeon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
    About 20%-30% of all cases of multiple endocrine neoplasia type 2A (MEN 2A) is accompanied by primary hyperparathyroidism. These patients undergo parathyroidectomy and, if needed, autotransplantation. In rare cases, autotransplanted parathyroid tissues can cause hypoparathyroidism due to failure of transplantation or hyperparathyroidism due to proliferation of the transplanted tissue. Read More

    Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation.
    Stem Cell Res 2016 Jun 27;17(1):154-157. Epub 2016 Jun 27.
    INSERM U935, Université Paris Sud, 94800 Villejuif, France; ESTeam Paris Sud, INSERM U935, Université Paris Sud, Université Paris-Saclay, 94800 Villejuif, France; INGESTEM National IPSC Infrastructure, 94800 Villejuif, France; Division of Hematology, Paris Sud University hospitals, Le Kremlin Bicêtre 94275, Villejuif 94800, France. Electronic address:
    Multiple Endocrine Neoplasia Type 2A (MEN2A) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC), pheochromocytoma, hyperparathyroidism and cutaneous lichen amyloidosis (CLA) and/or Hirschsprung disease in some variants. Currently, there is no satisfactory animal model recapitulating all the features of the disease especially at the level of stem cells. Read More

    Three siblings with familial non-medullary thyroid carcinoma: a case series.
    J Med Case Rep 2016 Aug 2;10:213. Epub 2016 Aug 2.
    Section of Endocrinology, Department of Medicine, Aga Khan University Hospital, Stadium Road, Karachi, Pakistan.
    Background: In 2015, thyroid carcinoma affected approximately 63,000 people in the USA, yet it remains one of the most treatable cancers. It is mainly classified into medullary and non-medullary types. Conventionally, medullary carcinoma was associated with heritability but increasing reports have now begun to associate non-medullary thyroid carcinoma with a genetic predisposition as well. Read More

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