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    Intraocular metastasis of medullary thyroid carcinoma investigated by transscleral fine-needle aspiration. A case report and review of the literature.
    Diagn Cytopathol 2018 Apr 16. 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

    Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2.
    Br J Surg 2018 Apr 17. 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

    [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

    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

    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

    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, Department of Biological Chemistry, National and Kapodistrian University of 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

    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

    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

    [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

    Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.
    J Endocrinol Invest 2018 Feb 2. 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

    Preimplantation Genetic Diagnosis of Multiple Endocrine Neoplasia Type 2A Using Informative Markers Identified by Targeted Sequencing.
    Thyroid 2018 Mar 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

    [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

    Non-mammalian models of multiple endocrine neoplasia type 2.
    Endocr Relat Cancer 2018 Feb;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

    Novel targeted therapeutics for MEN2.
    Endocr Relat Cancer 2018 Feb;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

    Extent of surgery for phaeochromocytomas in the genomic era.
    Br J Surg 2018 Jan;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

    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

    Pathology and genetics of phaeochromocytoma and paraganglioma.
    Histopathology 2018 Jan;72(1):97-105
    Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards, NSW, Australia.
    Phaeochromocytoma and paraganglioma (PHEO/PGL) are rare tumours with an estimated annual incidence of 3 per million. Advances in molecular understanding have led to the recognition that at least 30-40% arise in the setting of hereditary disease. Germline mutations in the succinate dehydrogenase genes SDHA, SDHB, SDHC, SDHD and SDHAF2 are the most prevalent of the more than 19 hereditary genetic abnormalities which have been reported. Read More

    Functional analysis of RET with multiple endocrine neoplasia type 2.
    J Cancer Res Ther 2017 ;13(5):823-828
    Oral Medicine Department, Beijing Stomatological Hospital, Capital Medical University, Beijing 100050, China.
    Background: Multiple endocrine neoplastic type 2 (MEN2) is an endocrine carcinoma syndrome which is caused by a germline activation mutation that occurs during transfection (RET) proto-oncogene transmission. MEN2A patients are affected by RET (C634Y, C634R) mutation; MEN2B patients are affected by RET (M918T) mutation.

    Aims: We aim to identify RET mutations' (C634R and M918T) expression, location, and signaling activation during the disease's progression, which providing a theoretical basis for the study on etiology of multiple endocrine neoplasia. Read More

    Transcriptional landscape of a RET-mutated iPSC and its CRISPR-corrected isogenic control reveals the putative role of EGR1 transcriptional program in the development of multiple endocrine neoplasia type 2A-associated cancers.
    Stem Cell Res 2018 Jan 23;26:8-16. Epub 2017 Nov 23.
    Inserm UMRS 935, Université Paris Sud, Villejuif, France; ESTeam Paris Sud, Infrastructure INGESTEM, Villejuif, France; APHP, Division of Hematology-of Paris Sud University Hospitals, University Paris Sud, Le Kremlin Bicêtre, France. Electronic address:
    MEN2A is a hereditary cancer-predisposing syndrome that affects patients with germline RET mutations. The effects of this oncogenic tyrosine kinase in the context of primitive stem cells are not known. In order to study these events, we generated a MEN2A induced Pluripotent Stem Cell (iPSC) line from a patient with RET mutation and an isogenic counterpart by CRISPR-Cas9 correction of the mutation. Read More

    Structure and function of RET in multiple endocrine neoplasia type 2.
    Endocr Relat Cancer 2018 Feb 24;25(2):T79-T90. Epub 2017 Nov 24.
    KinasesProtein Phosphorylation and Cancer, Structural Biology Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
    It has been twenty-five years since the discovery of oncogenic germline RET mutations as the cause of multiple endocrine neoplasia type 2 (MEN2). Intensive work over the last two and a half decades on RET genetics, signaling and cell biology has provided the current bases for the genotype-phenotype and functional correlations within this cancer syndrome. On the contrary, the structural and molecular basis for RET tyrosine kinase domain activation and oncogenic deregulation has remained largely elusive. Read More

    Next-generation panel sequencing identifies germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.
    Eur J Endocrinol 2018 Feb 20;178(2):K1-K9. Epub 2017 Nov 20.
    Institute for Clinical GeneticsFaculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany.
    Objective: Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next-generation sequencing (NGS) multi-gene panel analysis. Derived from this study, we here present three cases that were diagnosed with germline mutations but did not have a prior clinical diagnosis of neurofibromatosis type 1 (NF1).

    Design: We performed genetic analysis of known tumor predisposition genes, including , using a multi-gene NGS enrichment-based panel applied to a total of 1029 PPGL patients. Read More

    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 or . Read More

    Patient quality of life and prognosis in multiple endocrine neoplasia type 2.
    Endocr Relat Cancer 2018 Feb 24;25(2):T69-T77. Epub 2017 Oct 24.
    Association for Multiple Endocrine Neoplasia Disorders (AMEND)Tunbridge Wells, Kent, UK.
    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 cancer (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 Dec;153(12):1298-1301
    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 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 proto-oncogene, that shows nearly complete penetration. The American Thyroid Association guidelines recommend prophylactic thyroidectomy for patients with high-risk 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 Dec 3;27(12):1511-1522. 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 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 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 mutation screening by next-generation sequencing and polymerase chain reaction (PCR) amplification, followed by direct bidirectional DNA sequencing. Read More

    RET-mediated modulation of tumor microenvironment and immune response in multiple endocrine neoplasia type 2 (MEN2).
    Endocr Relat Cancer 2018 Feb 20;25(2):T105-T119. Epub 2017 Sep 20.
    Istituto di Endocrinologia ed Oncologia Sperimentale del CNR 'G. Salvatore'Naples, Italy
    Medullary thyroid carcinomas (MTC) arise from thyroid parafollicular, calcitonin-producing C-cells and can occur either as sporadic or as hereditary diseases in the context of familial syndromes, including multiple endocrine neoplasia 2A (MEN2A), multiple endocrine neoplasia 2B (MEN2B) and familial MTC (FMTC). In a large fraction of sporadic cases, and virtually in all inherited cases of MTC, activating point mutations of the proto-oncogene are found. encodes for a receptor tyrosine kinase protein endowed with transforming potential on thyroid parafollicular cells. 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 2018 Feb 7;25(2):T41-T52. Epub 2017 Sep 7.
    Department of GeneralVisceral and Transplantation Surgery, Section of Endocrine Surgery, University of Duisburg-Essen, 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 type 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 2018 Mar;35(3):381-385
    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 () mutation carriers from 2010 to 2016 in Cancer Hospital, Chinese Academy of Medical Science; the medical history for each patient was collected. Read More

    C Cell and Follicular Epithelial Cell Precursor Lesions of the Thyroid.
    Arch Pathol Lab Med 2017 Dec 23;141(12):1646-1652. Epub 2017 Jun 23.
    Context: - The identification of precursor or dysplastic lesions in the thyroid is difficult. Pathology of the C cell has been extensively studied, and the preneoplastic nature of C-cell hyperplasia in the setting of familial medullary thyroid carcinomas is well established. However, the distinction between neoplastic and physiologic/reactive C-cell hyperplasia remains a challenge. Read More

    ATTITUDES TOWARD GENETIC COUNSELING AND TESTING IN PATIENTS WITH INHERITED ENDOCRINOPATHIES.
    Endocr Pract 2017 Sep 14;23(9):1039-1044. Epub 2017 Jun 14.
    Objective: Inherited endocrinopathies are rare tumor predisposition syndromes associated with significant morbidity and mortality and have implications for both patients and their families. Prior studies suggest that early diagnosis of inherited endocrinopathies may reduce morbidity and mortality. Although genetic counseling and testing can help inform the appropriate management of at-risk relatives, barriers to care still exist. 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 medullary thyroid cancer: An overview.
    Int J Surg 2017 May;41 Suppl 1:S2-S6
    Department of Neurological, Metabolic and Geriatric Science, University of Campania "Luigi Vanvitelli", Naples, Italy. Electronic address:
    Medullary thyroid carcinoma (MTC) represents 3-5% of thyroid cancers. 75% is sporadic and 25% is the dominant component of the hereditary multiple endocrine neoplasia (MEN) type 2 syndromes. Three different subtypes of MEN2, such as MEN2A, MEN2B, and Familial MTC (FMTC) have been defined, based on presence or absence of hyperparathyroidism, pheocromocytoma and characteristic clinical features. 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 , and 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 , and 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

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