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    1896 results match your criteria Multiple Endocrine Neoplasia Type 2

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    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

    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 Apr 4. 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 Feb 6. 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

    [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

    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

    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

    [Genotype-phenotype correlations in multiple endocrine neoplasia type 2].
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2016 Jul;51(7):538-41
    Department of Head and Neck Surgery, Cancer Institute & Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100021, China.
    Objective: To evaluate the relationship between different RET mutations and the aggressiveness of hereditary medullary thyroid cancer (HMTC) or the presentation of other endocrine disorders in patients with multiple endocrine neoplasia type 2 (MEN2).

    Methods: A total of 73 thyroid medullary carcinoma patients from 22 Chinese kindreds who were treated in our center from 2010 to 2015 were enrolled. RET genes in the patients and their relatives were screened. Read More

    A Nationwide Study of Multiple Endocrine Neoplasia Type 2A in Norway: Predictive and Prognostic Factors for the Clinical Course of Medullary Thyroid Carcinoma.
    Thyroid 2016 Sep 11;26(9):1225-38. Epub 2016 Aug 11.
    2 Institute of Clinical Medicine, University of Oslo , Oslo, Norway .
    Background: Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant syndrome caused by activating germline mutations in the RET (REarranged during Transfection) proto-oncogene. MEN 2A has a strong (>95%) and age-dependent (5-25 years) clinical penetrance of medullary thyroid carcinoma (MTC). Several major studies have analyzed the predictive and prognostic factors for MEN 2A to find indicators that predict the optimal timing of prophylactic thyroidectomy. Read More

    Notalgia Paresthetica and Multiple Endocrine Neoplasia Syndrome 2A: A Case Report.
    Pediatr Dermatol 2016 Sep 11;33(5):e303-5. Epub 2016 Jul 11.
    Department of Dermatology, Hospital La Paz, Madrid, Spain.
    Notalgia paresthetica is characterized by a hyperpigmented macular pruritic skin lesion most commonly localized unilaterally in the middle and upper back region. This condition has been reported in association with multiple endocrine neoplasia syndrome type 2A (MEN 2A) in several families; it rarely affects children and it may serve as an early marker of MEN 2A. We report a 9-year-old girl diagnosed with MEN 2A and notalgia paresthetica. Read More

    Detection of Molecular Alterations in Medullary Thyroid Carcinoma Using Next-Generation Sequencing: an Institutional Experience.
    Endocr Pathol 2016 Dec;27(4):359-362
    Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA, 19104, USA.
    Medullary thyroid carcinoma (MTC) harbors rearranged during transfection (RET) gene and rarely RAS gene mutations. The knowledge of the type of gene mutation in MTC is important to determine the treatment of the patients and the management of their family members. Targeted next-generation sequencing with a panel of 47 genes was performed in a total of 12 cases of sporadic (9/12) and hereditary MTC (3/12). Read More

    Retrospective analysis of 140 cases of medullary thyroid carcinoma followed-up in a single institution.
    Oncol Lett 2016 Jun 20;11(6):3870-3874. Epub 2016 Apr 20.
    Department of Endocrinology, Portuguese Institute of Oncology Francisco Gentil, Lisbon 1099-023, Portugal.
    Familial cases of medullary thyroid carcinoma (MTC) may be diagnosed by genetic screening, while in sporadic tumors the diagnosis relies mainly on fine-needle aspiration cytology. The aim of the present study was to determine the demographic, clinical and pathological characteristics of MTC patients followed-up at the Portuguese Institute of Oncology Francisco Gentil (Lisbon, Portugal). For that purpose, a retrospective analysis of 140 MTC patients diagnosed between 1990 and 2010 was performed. Read More

    Clinical significance of RET mutation screening in a pedigree of multiple endocrine neoplasia type 2A.
    Mol Med Rep 2016 Aug 6;14(2):1413-7. Epub 2016 Jun 6.
    Department of Surgical Oncology, Taizhou Cancer Hospital, Taizhou Branch of Fudan University, Taizhou, Zhejiang 317502, P.R. China.
    The clinical characteristics and RET proto-oncogene (RET‑PO) mutation status of a patient with multiple endocrine neoplasia type 2A pedigree (MEN2A) was analyzed with the aim of preliminarily exploring the molecular mechanisms and clinical significance of the disease. Clinical characteristics of a single MEN2A patient were analyzed. Genomic DNA was extracted from the peripheral blood of the proband and 10 family members. Read More

    Endocrine neoplasms in familial syndromes of hyperparathyroidism.
    Endocr Relat Cancer 2015 Jun 20;23(6):R229-47. Epub 2016 May 20.
    National Institutes of HealthBethesda, Maryland, USA
    Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw tumor (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases. Familial syndromes of hyperparathyroidism are also associated with a range of endocrine and nonendocrine tumors, including potential malignancies. Complications of the associated neoplasms are the major causes of morbidities and mortalities in these familial syndromes, e. Read More

    Laparoscopic bilateral cortical-sparing adrenalectomy for pheochromocytoma.
    Surg Endosc 2016 Dec 13;30(12):5622-5623. Epub 2016 May 13.
    Department of Surgery, Medical Faculty Associates, The George Washington University Medical Center, 2150 Pennsylvania Ave NW, 6th Floor, Washington, DC, 20073, USA.
    Introduction: Since laparoscopic adrenalectomy for pheochromocytoma was reported in 1992, the laparoscopic technique has largely replaced the open approach [4]. Numerous studies have demonstrated that the laparoscopic approach is associated with decreased blood loss, shorter hospitalization, faster recovery, and lower cost [1]. Conversion rates are reported at less than 5. Read More

    How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?
    Eur Thyroid J 2016 Mar 25;5(1):73-7. Epub 2016 Feb 25.
    Department of Internal Medicine III, Giessen University Hospital, Giessen, Germany.
    Introduction And Background: Familial medullary thyroid cancer (FMTC) is caused by gain of function mutations in the proto-oncogene RET (rearranged during transfection). Missense mutations within exon 14 including p.Val804Met are known to cause FMTC and multiple endocrine neoplasia type 2a/b. Read More

    Diagnosis and Management of Hereditary Thyroid Cancer.
    Recent Results Cancer Res 2016 ;205:29-44
    St. George's, University of London, London, UK.
    Thyroid cancers are largely divided into medullary (MTC) and non-medullary (NMTC) cancers , depending on the cell type of origin. Familial non-medullary thyroid cancer (FNMTC) comprises about 5-15% of NMTC and is a heterogeneous group of diseases, including both non-syndromic and syndromic forms. Non-syndromic FNMTC tends to manifest papillary thyroid carcinoma , usually multifocal and bilateral . Read More

    Emerging Roles of Epigenetic Regulator Sin3 in Cancer.
    Adv Cancer Res 2016 2;130:113-35. Epub 2016 Mar 2.
    The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States. Electronic address:
    Revolutionizing treatment strategies is an urgent clinical need in the fight against cancer. Recently the scientific community has recognized chromatin-associated proteins as promising therapeutic candidates. However, there is a need to develop more targeted epigenetic inhibitors with less toxicity. Read More

    Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients.
    Oncotarget 2016 May;7(18):26465-79
    UOC Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy.
    Germline and somatic mutations play a crucial role in breast cancer (BC), driving the initiation, progression, response to therapy and outcome of the disease. Hormonal therapy is limited to patients with tumors expressing steroid hormone receptors, such as estrogen receptor (ER), nevertheless resistance often limits its success.The RET gene is known to be involved in neurocristopathies such as Hirschsprung disease and Multiple Endocrine Neoplasia type 2, in the presence of loss-of-function and gain-of-function mutations, respectively. Read More

    Local recurrence of pheochromocytoma in multiple endocrine neoplasia type 2A: a diagnostic and therapeutic challenge.
    Clin Case Rep 2016 Mar 12;4(3):298-300. Epub 2016 Feb 12.
    Service d'Endocrinologie et Maladies Métaboliques Pôle Cardio-Vasculaire et Métabolique CHU Larrey Toulouse France.
    In a patient with multiple endocrine neoplasia type 2A (MEN2A), an inverted physiological ratio between urinary normetanephrines and metanephrines is an early marker of recurrence in epinephrine-secreting pheochromocytoma, and 131I MIBG treatment appears to be a useful therapeutic option in order to avoid multiple invasive surgical procedures in pheochromocytomatosis. Read More

    Medullary thyroid carcinoma: a review on ethical considerations in treatment of children.
    J Pediatr Endocrinol Metab 2016 Jun;29(6):633-9
    Thyroid carcinoma is the most common malignancy of the endocrine system and it accounts approximately 1%-3% of all human cancers. Among the three subtypes of thyroid cancers, medullary thyroid carcinoma (MTC) is the most common cause of death in patients with multiple endocrine neoplasia (MEN) type 2A (MEN2A), MEN type 2B (MEN2B) and familial medullary thyroid carcinoma (FMTC). Generally, MTC accounts for up to 10% of all types of thyroid cancers. Read More

    Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
    Hum Mol Genet 2016 May 3;25(9):1836-45. Epub 2016 Mar 3.
    Centre for Rare Diseases and Personalised Medicine, West Midlands Regional Genetics Service, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK
    Familial medullary thyroid cancer (MTC) and its precursor, C cell hyperplasia (CCH), is associated with germline RET mutations causing multiple endocrine neoplasia type 2. However, some rare families with apparent MTC/CCH predisposition do not have a detectable RET mutation. To identify novel MTC/CCH predisposition genes we undertook exome resequencing studies in a family with apparent predisposition to MTC/CCH and no identifiable RET mutation. Read More

    MEN 2A-related cutaneous lichen amyloidosis: report of three kindred and systematic literature review of clinical, biochemical and molecular characteristics.
    Fam Cancer 2016 Oct;15(4):625-33
    Thyroid Section, Endocrine Division, Serviço de Endocrinologia, Hospital de Clínicas de Porto Alegre, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Ramiro Barcelos 2350, Porto Alegre, RS, 90035-003, Brazil.
    Multiple endocrine neoplasia type 2A (MEN2A) may be rarely associated with cutaneous lichen amyloidosis (CLA), a skin lesion located in the interescapular region. Here, we describe 3 MEN2A-related CLA kindred and perform a systematic review (SR) of the literature on clinical, biochemical and molecular characteristics of MEN2A-related CLA patients. Thirty-eight patients with MEN2A-related CLA followed at our institution were evaluated. Read More

    Risk-reduction surgery in pediatric surgical oncology: A perspective.
    J Pediatr Surg 2016 Apr 3;51(4):675-87. Epub 2016 Feb 3.
    Department of Surgery,St. Jude Children's Research Hospital,Memphis,TN,United States.
    Objective: A small percentage of pediatric solid cancers arise as a result of clearly identified inherited predisposition syndromes and nongenetic lesions. Evidence supports preemptive surgery for children with genetic [multiple endocrine neoplasia type 2 (MEN2), familial adenomatous polyposis syndrome (FAP), hereditary nonpolyposis colorectal cancer (HNPCC), and hereditary diffuse gastric cancer (HDGC) and nongenetic [thyroglossal duct cysts (TGDC), congenital pulmonary airway malformations (CPAM), alimentary tract duplication cysts (ATDC), and congenital choledochal cysts (CCC)] developmental anomalies. Our aim was to explore the utility of risk reduction surgery to treat and prevent cancer in children. Read More

    Occurrence of phaeochromocytoma tumours in RET mutation carriers - a single-centre study.
    Endokrynol Pol 2016 ;67(1):54-8
    Department of Nuclear Medicine and Endocrine Oncology, Maria Skłodowska-Curie Memorial Cancer Centre and Institute of Oncology, Gliwice Branch.
    Introduction: Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant genetic syndrome caused by germline mutation in RET proto-oncogene. The most common mutations are in a cysteine rich domain. Phaeochromocytoma will develop in approximately 50% of RET proto-oncogene carriers. Read More

    Multiple endocrine neoplasia type 2 kindred with novel tandem RET mutations: Case report with an applied in silico mutational tolerance analysis.
    Head Neck 2016 Apr 15;38 Suppl 1:E1881-5. Epub 2016 Feb 15.
    Weill Cornell Medical College/NewYork Presbyterian Hospital, Department of Otolaryngology-Head and Neck Surgery, New York, New York.
    Background: The American Thyroid Association (ATA) has established guidelines for prophylactic thyroidectomy in multiple endocrine neoplasia type 2A (MEN2A) based on rearranged during transfection (RET) mutations. In silico analysis, which uses computer modeling to predict alterations in protein structure, is a new method for studying these mutations.

    Methods: We describe a kindred with MEN2A, all sharing a well-documented RET mutation, p. Read More

    A comprehensive overview of the role of the RET proto-oncogene in thyroid carcinoma.
    Nat Rev Endocrinol 2016 Apr 12;12(4):192-202. Epub 2016 Feb 12.
    Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Via Paradisa 2, 56124 Pisa, Italy.
    The rearranged during transfection (RET) proto-oncogene was identified in 1985 and, very soon thereafter, a rearrangement named RET/PTC was discovered in papillary thyroid carcinoma (PTC). After this discovery, other RET rearrangements were found in PTCs, particularly in those induced by radiation. For many years, it was thought that these genetic alterations only occurred in PTC, but, in the past couple of years, some RET/PTC rearrangements have been found in other human tumours. Read More

    A rare presentation of multiple endocrine neoplasia (MEN) type 2A syndrome.
    Ann Med Surg (Lond) 2016 Feb 25;5:35-7. Epub 2015 Nov 25.
    Department of Surgery, Faculty of Health Sciences, University of Buea, PO Box 126, Limbe S.W. Region, Buea, Cameroon.
    Peptic ulcer disease may be a manifestation of symptomatic primary hyperparathyroidism. A case of an intractable complicated peptic ulcer disease secondary to hypercalcaemia from multiple endocrine neoplasia type 2A is presented. Hypercalcaemia should always be excluded as a cause of recurrent, or complicated peptic ulcer disease. Read More

    Somatic RET mutation in a patient with pigmented adrenal pheochromocytoma.
    Endocrinol Diabetes Metab Case Rep 2016 18;2016:150117. Epub 2016 Jan 18.
    Endocrine Research Unit, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München , Munich , Germany.
    Unlabelled: Pheochromocytomas (PCC) and paraganglioma (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the neural crest. Mutations in the RET-proto-oncogene are associated with sporadic pheochromocytoma, familial or sporadic medullary thyroid carcinoma (MTC) and multiple endocrine neoplasia type 2. In the past, only few cases of pigmented PCCs, PGLs, and one case of pigmented MTC have been reported in the literature. Read More

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