Search Our Scientific Publications & Authors

Endocr J 2020 May 29. Epub 2020 May 29.

Department of Medicine (DIMED), Endocrinology Unit, Padua University, Padua, Italy.

Autoimmune Addison's disease (AAD) is a rare condition occurring either in isolation or associated with other autoimmune diseases as part of an autoimmune polyglandular syndrome (APS) type 1, 2 or 4. Multiple endocrine neoplasia (MEN) type 1, 2 or 4 is a hereditary autosomal dominant cancer syndrome. Medullary thyroid carcinoma and pheochromocytoma are neoplasms common to MEN-2a and MEN-2b. Read More

Endocr Relat Cancer 2020 May 1. Epub 2020 May 1.

R Gagel, Section of Endocrinology, MD Anderson Cancer Center, Houston, 77030-4009, United States.

Forty years ago, physicians caring for the J-kindred, a 100+ member family with multiple endocrine neoplasia type 2A (MEN2A), hypothesized that early thyroidectomy based on measurement of the biomarker calcitonin could cure patients at risk for development of medullary thyroid carcinoma (MTC). We re-evaluated 22 family members with proven RET proto-oncogene mutations (C634G) who underwent thyroidectomy and central lymphadenectomy between 1972-1994 based on stimulated calcitonin abnormalities. Current disease status was evaluated by serum calcitonin measurement and neck ultrasound in eighteen of the 22 prospectively screened patients. Read More

Am J Surg Pathol 2020 May 22. Epub 2020 May 22.

Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research.

We investigated the prognostic value of a range of histologic parameters in medullary thyroid carcinoma (MTC) to design a grading system to predict overall survival. We assessed 76 patients with MTCs undergoing primary tumor resection for age, sex, tumor size, vascular space invasion, lymph node metastasis, multiple endocrine neoplasia type 2 (MEN2) status, mitotic count, Ki-67 proliferative index, spindled morphology, sheet-like growth pattern, coagulative necrosis, incipient necrosis, nuclear grade, multinucleation, prominent nucleoli, fibrosis, and amyloid deposition. In addition to the clinical features of age and the diagnosis of MEN2, the only histologic features that significantly predicted reduced overall survival were Ki-67 proliferative index, mitotic count, and the presence of coagulative necrosis. Read More

Front Endocrinol (Lausanne) 2020 28;11:251. Epub 2020 Apr 28.

Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark.

Previous studies have suggested that the variability in age of onset and aggressiveness of medullary thyroid carcinoma (MTC) in patients with multiple endocrine neoplasia type 2A (MEN 2A) carrying the same arranged during ransfection () mutation may be caused by additional germline variants or somatic variants. This study was a retrospective case comparison study of all MEN 2A index patients ( = 2) with the L790F germline mutation in Denmark. Whole blood and MTC tissue were analyzed for germline variants and other somatic variants (>500), respectively. Read More

Endocrine 2020 May 10. Epub 2020 May 10.

Department of Endocrinology, Aix-Marseille University, INSERM U1251, Endo-ERN Reference Center for Rare Genetic Tumor Syndromes, Assistance Publique-Hopitaux de Marseille, Marseille, France.

Multiple endocrine neoplasia type 2 (MEN2) is a rare hereditary syndrome due to mutations of the proto-oncogene REarranged during Transfection (RET), defined by the association of medullary thyroid carcinoma (MTC) in almost 100% cases, and pheochromocytoma in roughly 50% (primary hyperparathyroidism can be seen in 10-20% of patients with MEN2A). Early thyroidectomy and the efficacy of novel tyrosine kinase inhibitors modified the natural history of MTC, with possibilities of cure or long-term control. The second main compound, pheochromocytoma, is reported with a variable penetrance, from 10 to 80% cases, depending on the mutation of RET. Read More

Endocr Connect 2020 May 1. Epub 2020 May 1.

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

Objective: Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations, and have been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases. Read More

Horm Metab Res 2020 Apr 16. Epub 2020 Apr 16.

Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.

Medullary Thyroid Carcinoma (MTC) is a rare neuroendocrine cancer that accounts for 1-2% of thyroid cancers in the United States (U.S.). Read More

J Med Genet 2020 Apr 13. Epub 2020 Apr 13.

Internal Medicine-Oncology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China

Background: Rearranged during transfection () is a well-known proto-oncogene. Multiple oncogenic alterations have been identified, including fusions and mutations. Although fusions have been reported in multiple cancers, mutations were mainly found in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma. Read More

Dev Growth Differ 2020 May 28;62(4):214-222. Epub 2020 Apr 28.

Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan.

Missense mutations of the RET gene have been identified in both multiple endocrine neoplasia (MEN) type 2A/B and Hirschsprung disease (HSCR: congenital absence of the enteric nervous system, ENS). Current consensus holds that MEN2A/B and HSCR are caused by activating and inactivating RET mutations, respectively. However, the biological significance of RET missense mutations in vivo has not been fully elucidated. Read More

Tokai J Exp Clin Med 2020 Apr 20;45(1):18-23. Epub 2020 Apr 20.

Department of Internal Medicine, Kanagawa Dental School, Inaoka-cho 82, Yokosuka, Kanagawa 238-8580, Japan.

A 61-year-old female was diagnosed with multiple endocrine neoplasia type 2A (MEN2A), caused by a heterozygous point mutation in the RET gene (TGC to TAC at codon 634) resulting in the substitution of cytosine with leucine (C634Y). The patient had pheochromocytoma (PCC) in the left adrenal gland and medullary thyroid carcinoma (MTC) with liver metastasis. Primary hyperparathyroidism (PHP) was not evident. Read More

J Endocr Soc 2020 Apr 18;4(4):bvaa020. Epub 2020 Feb 18.

Department of Medicine, Houston Methodist Hospital, Houston, TX, and Weill Cornell Medicine, New York, NY.

The coexistence of multiple endocrine neoplasia type 1 (MEN1) and type 2A (MEN2A) is a rare occurrence and has been reported only twice in the literature. We present a patient with primary hyperparathyroidism and medullary thyroid cancer with strong family history of both MEN1- and MEN2A-associated conditions. Genetic testing showed the patient had a novel loss-of-function mutation, c0. Read More

Endocrine 2020 May 25;68(2):368-376. Epub 2020 Feb 25.

Medical Faculty, Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, D-06097, Halle (Saale), Germany.

Purpose: To determine whether published disease penetrance estimates of 50% for pheochromocytoma and 20-30% for primary hyperparathyroidism in multiple endocrine neoplasia (MEN 2A), conceivably reflecting overrepresentation of index patients with completely developed MEN 2A, may be too high.

Methods: Cross-sectional study of carriers at high risk of MEN 2A from a tertiary referral center.

Results: There were 213 carriers of RET mutations in codon 634, born between 1922 and 2014. Read More

J Clin Oncol 2020 Apr 21;38(11):1209-1221. Epub 2020 Feb 21.

Department of Investigational Cancer Therapy, The University of Texas MD Anderson Cancer Center, Houston, TX.

Activating receptor tyrosine kinase RET (rarranged during transfection) gene alterations have been identified as oncogenic in multiple malignancies. RET gene rearrangements retaining the kinase domain are oncogenic drivers in papillary thyroid cancer, non-small-cell lung cancer, and multiple other cancers. Activating RET mutations are associated with different phenotypes of multiple endocrine neoplasia type 2 as well as sporadic medullary thyroid cancer. Read More

Indian J Nucl Med 2020 Jan-Mar;35(1):48-53. Epub 2019 Dec 31.

Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi, India.

Type 2 multiple endocrine neoplasia (MEN2A) is a variant of hereditary medullary thyroid carcinoma (MTC). MEN2A is characterized by the presence of the following: MTC, hyperparathyroidism, and pheochromocytoma (PHEO). The pathogenesis includes proto-oncogene mutation; the most frequently observed mutation is in exon 11 codon 634. Read More

Pediatr Blood Cancer 2020 Apr 11;67(4):e28171. Epub 2020 Jan 11.

Pediatric Oncology Department, Otto von Guericke University Children´s Hospital, Magdeburg, Germany.

Background: Medullary thyroid carcinomas (MTC) account for 3% to 5% of all thyroid cancers. In most cases, MTC is hereditary and occurs as part of the multiple endocrine neoplasia (MEN) type 2A and 2B syndromes. There is a strong genotype-phenotype correlation associated with the respective RET mutations, making risk-adapted management possible. Read More

Orv Hetil 2020 Jan;161(2):75-79

Belgyógyászati Intézet, Endokrinológia Tanszék, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen, Nagyerdei krt. 98., 4032.

The authors present the case of a multiplex endocrine neoplasia type 2A (MEN2A). The 55-year-old woman underwent detailed examinations for abdominal complaints. Bilateral adrenal masses and thyroid nodular goiter were found. Read More

Curr Oncol 2019 12 1;26(6):389-394. Epub 2019 Dec 1.

Endocrine Oncology Site Group, Princess Margaret Cancer Centre, Toronto, ON.

Medullary thyroid cancer is a rare type of neuroendocrine tumour that arises from the parafollicular cells (C cells) of the thyroid gland. It accounts for 3%-5% of thyroid cancer cases. Close to 25% of cases are familial, and 75% are considered sporadic. Read More

BMC Endocr Disord 2019 Oct 16;19(1):103. Epub 2019 Oct 16.

Division of Thyroid Surgery - Department of Medical and Advanced Surgical Sciences, University of Campania "Luigi Vanvitelli", School of Medicine, Via Sergio Pansini, 5, 80131, Naples, Italy.

Background: Medullary thyroid carcinoma is a malignant uncommon and aggressive tumour of the parafollicular C cells. In about 75% of cases it is sporadic while, in case of RET mutation, it is associated to multiple endocrine neoplasia type 2 (25% of cases). The biochemical features of medullary thyroid carcinoma include the production of calcitonin and carcinoembryogenic antigen. Read More

Endocrinol Diabetes Metab Case Rep 2019 Oct 12;2019. Epub 2019 Oct 12.

Department of Urology and Andrology, Kansai Medical University, Hirakata, Japan.

Summary: A 21-year-old woman was referred to our hospital to treat bilateral pheochromocytomas (PCCs) after a diagnosis of multiple endocrine neoplasia type 2A (MEN2A). We performed bilateral laparoscopic adrenalectomy. One year after the operation, urinary fractionated metanephrines in 24-h urine increased. Read More

Exp Suppl 2019 ;111:105-127

2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary.

In this chapter, we present an overview of multiple endocrine neoplasia syndromes including their most important clinical and molecular features. Multiple endocrine neoplasia type 1 and 2 syndromes (MEN1 and MEN2) are discussed in detail. Syndromes that are presented in other chapters are only briefly mentioned. Read More

Ann Surg Oncol 2019 Dec 23;26(13):4423-4429. Epub 2019 Sep 23.

Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Introduction: Long-term outcomes after curative resection in patients with germline RET mutations and medullary thyroid cancer (MTC) are highly variable and mutation-specific oncologic outcomes are not well-described.

Methods: Sixty-six patients identified from 1986 to 2017 from a single-institution cancer database were assessed for recurrence and survival using Kaplan-Meier estimates, and correlated with clinicopathologic features using log-rank or Cox proportional hazards.

Results: Median follow-up was 9. Read More

Int J Pediatr Otorhinolaryngol 2019 Dec 10;127:109673. Epub 2019 Sep 10.

Department of Surgical Oncology, Comenius University Bratislava, St. Elizabeth Cancer Institute, Bratislava, Slovakia. Electronic address:

Introduction: Thyroid cancer in children is a hot topic because of the large clinical heterogeneity and the risk of severe complications. We aimed to study 1. The frequency, 2. Read More

Genes (Basel) 2019 09 10;10(9). Epub 2019 Sep 10.

Department of Clinical and Experimental Medicine, Unit of Endocrinology University of Pisa, 56124 Pisa, Italy.

Background: Pathogenic germline mutations affecting the proto-oncogene underlie the development of hereditary medullary thyroid carcinoma (MTC). The aims of this study were to evaluate the prevalence of germline mutations in a large series of MTC, collected over the last 25 years, and to reappraise their clinical significance.

Methods: We performed genetic screening in 2031 Italian subjects: patients who presented with sporadic (n = 1264) or hereditary (n = 117) MTC, plus 650 relatives. Read More

Endokrynol Pol 2019 ;70(4):367-379

Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Institute - Oncology Centre Gliwice Branch, Gliwice, Poland.

Medullary thyroid carcinoma (MTC) still remains a rare endocrine tumor. 20-25% of MTC cases are genetically determined. The detection of the RET proto-oncogene mutation in 1993 allowed to understand the unique genotype-phenotype relationships in hereditary medullary thyroid carcinoma (HMTC) and formed the basis for therapeutic decisions based on the molecular results. Read More

BMJ Case Rep 2019 Aug 30;12(8). Epub 2019 Aug 30.

Pediatric-Nephrology, University of Michigan, Ann Arbor, Michigan, USA.

Pathogenic variants in the gene can cause isolated and multi-system diseases. We report a patient diagnosed prenatally with unilateral multicystic dysplastic kidney and genitourinary abnormality whose mother had multiple endocrine neoplasia type 2A (MEN2A). Targeted sequencing found the same pathogenic variant p. Read More

J Pediatr Surg 2019 Jul 19. Epub 2019 Jul 19.

Centre for Endocrine Surgery, University College London Hospital and Great Ormond Street Hospital, London, United Kingdom.

Purpose: Disruption of calcium homeostasis is the most common complication after total thyroidectomy in adults. We explored the incidence and risk factors of hypocalcaemia and hypoparathyroidism after total thyroidectomy in children (≤18 years of age).

Methods: One hundred six children underwent total thyroidectomy. Read More

Curr Cardiol Rep 2019 07 31;21(9):104. Epub 2019 Jul 31.

Department of Medicine, Division of Endocrinology, Metabolism and Diabetes, Division of Biomedical Informatics and Personalized Medicine, University of Colorado School of Medicine, 12801 E. 17th Ave, MS 8106, Aurora, CO, 80045, USA.

Pheochromocytomas and paragangliomas (PCC/PGL) are neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia which often over-secrete catecholamines leading to cardiovascular morbidity and even mortality. These unique tumors have the highest heritability of all solid tumor types with up to 35-40% of patients with PCC/PGL having a germline predisposition. PURPOSE OF REVIEW: To review the germline susceptibility genes and clinical syndromes associated with PCC/PGL. Read More

Thyroid 2019 10 11;29(10):1447-1456. Epub 2019 Sep 11.

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

Inherited medullary thyroid carcinoma (MTC) is primarily caused by mutations that are commonly localized in exons 5, 8, 10, 11, and 13-16. In this study, we report pedigrees for individuals with MTC that harbor a germline S409Y variant within exon 6 of the proto-oncogene. Targeted sequencing was used to diagnose four apparently sporadic MTC index cases carrying the germline S409Y (c. Read More

J Pediatr Endocrinol Metab 2019 Aug;32(8):889-893

Department of Paediatric Surgery, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.

Background To describe the complications and long-term results in patients with multiple endocrine neoplasia type 2A (MEN 2A) syndrome in whom a prophylactic thyroidectomy was performed, in relation to the recommendations of the American Thyroid Association (ATA). Methods A retrospective study of 14 patients with MEN 2A thyroidectomized between 2000 and 2017. We reviewed demographic, clinical, analytical and radiological data. Read More

Front Genet 2019 11;10:544. Epub 2019 Jun 11.

HAS-SE "Lendulet" Hereditary Endocrine Tumors Research Group, Hungarian Academy of Sciences, Semmelweis University, Budapest, Hungary.

Coincidences of more than one pathogenic mutation in high and/or moderate risk-associated cancer genes have been rarely reported, and the implication for disease progression has been debated. We present a case harboring two autosomal dominant inherited mutations potentially aggravating the phenotype. A 16-year-old female was referred to the Endocrine Unit due to two palpable thyroid nodules and hair loss. Read More

Surg Clin North Am 2019 Aug 27;99(4):693-709. Epub 2019 May 27.

Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street, FCT 17.6000, Houston, TX 77030, USA.

This article summarizes the surgical management of tumors associated with multiple endocrine neoplasia 1 (MEN1) and multiple endocrine neoplasia 2 (MEN2) and includes discussion of the preoperative planning, the goals, and extent of surgery, as well as the intraoperative considerations and the management of recurrent disease. Read More

Ann Pathol 2019 Dec 25;39(6):433-436. Epub 2019 Jun 25.

Service de pathologie, hôpital Saint-Louis, université Paris Diderot, AP-HP, 1, avenue Claude-Vellefaux, 75010 Paris, France. Electronic address:

Gastrointestinal tract ganglioneuromatosis is a rare condition, which is isolated or included in a syndromique disease. Multiple endocrine neoplasia type 2 is the most frequently associated syndrome. Association with type 1 neurofibromatosis has also been established, but much rarely. Read More

Aging (Albany NY) 2019 06;11(11):3416-3417

Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale, Marseille Medical Genetics, Marseille, France.

J Pediatr Endocrinol Metab 2019 Jun;32(6):585-595

Department of Pediatrics, Teikyo University Chiba Medical Center, 3426-3 Anesaki, Ichihara-shi, Chiba 299-0111, Japan.

Background In Japan, prophylactic thyroidectomy involves out-of-pocket expense. The American Thyroid Association (ATA) recommends prophylactic thyroidectomy for medullary thyroid carcinoma (MTC) during early childhood in patients with multiple endocrine neoplasia type 2 (MEN2). The ATA reports a high frequency of postoperative complications in childhood, which also influenced the delay of prophylactic thyroidectomy in Japan. Read More

J Clin Endocrinol Metab 2019 10;104(10):4264-4272

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

Context: Recent data on long-term outcomes and aggressiveness of medullary thyroid carcinoma (MTC) are lacking for patients with multiple endocrine neoplasia type 2 (MEN2).

Objectives: To analyze the long-term outcomes in MEN2 and compare MTC aggressiveness in three defined RET mutation-risk categories: moderate risk (MOD), high risk (H), and highest risk (HST).

Design, Setting: Retrospective study of 263 operated patients with MEN2 from one German tertiary referral center from 1979 to 2017 comparing demographic, biochemical, genetic, and outcome parameters. Read More

J Endocr Soc 2019 Jun 15;3(6):1167-1174. Epub 2019 Apr 15.

Instituto do Câncer do Estado de São Paulo, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

Scarce data are available on the quality of life and psychosocial distress of patients with multiple endocrine neoplasia type 2 (MEN2), a genetic cancer syndrome caused by germline mutations. Carriers of mutations can face several challenges, including fear for the future, guilt for transmission of a germline mutation to an offspring, side effects of cancer treatment, coping behaviors in the face of a chronic and frequently incurable cancer, and difficulties in access to adequate health care. We have addressed the effects of genetic testing on the quality of life of patients with MEN2 and the lifelong physical and psychosocial challenges experienced by these patients. Read More

Am J Med 2019 11 17;132(11):e767-e770. Epub 2019 May 17.

Division of Endocrinology, Department of Medicine, National University Health System, Singapore.

Indian J Cancer 2019 Apr-Jun;56(2):173-175

Department of Surgical Oncology, Taizhou Cancer Hospital, Taizhou Branch of Zhejiang Cancer Hospital, Taizhou, Zhejiang Province, China.

A 41 year old man presented with a familial history of multiple endocrine neoplasia type 2A (MEN2A) and severe hypertension. Rearranged during transfection (RET) gene sequencing confirmed a Cys634Tyr mutation of TGC to TAC. Total thyroidectomy and bilateral neck dissection were performed and the pathological assessment revealed a medullary thyroid carcinoma (MTC), 0. Read More

Ann Endocrinol (Paris) 2019 Jun 11;80(3):187-190. Epub 2019 Apr 11.

Department of clinical and experimental medicine, unit of endocrinology, university of Pisa, Pisa, Italy.

Medullary thyroid cancer (MTC) is a rare thyroid tumor whose prevalence is 3-5% among all thyroid tumors. The pathogenesis of MTC is mainly related to germline or somatic RET activating point mutations that are causative of hereditary and sporadic cases, respectively. Hereditary MTC can occur as multiple endocrine neoplasia type 2A (MEN 2A), type 2B (MEN 2B) and familial MTC (FMTC) that differ for the association with other endocrine neoplasia. Read More

Eur J Endocrinol 2019 Jul;181(1):13-21

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Objective: Multiple clinical, pathological and biochemical variables, including the response to initial treatment, are associated with medullary thyroid carcinoma (MTC) prognosis. Studies that include separate analyses of familial and sporadic MTC patients followed for long period are scarce. This study evaluated the association between baseline clinico-pathologic variables and response to initial treatment and short- and long-term disease outcomes in sporadic and familial MTC. Read More

Best Pract Res Clin Endocrinol Metab 2019 08 17;33(4):101274. Epub 2019 Apr 17.

Medical Faculty, Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, D-06097 Halle (Saale), Germany; Department of General, Visceral and Transplantation Surgery, Section of Endocrine Surgery, University of Duisburg-Essen, D-45122 Essen, Germany.

Advances in sequencing technology, providing unprecedented insights into cancer progression, have shifted the treatment paradigm towards precision medicine for hereditary medullary thyroid cancer (MTC), away from the 'one-size-fits-all' approach predicated on genetic risk alone. The DNA-based/biochemical concept, factoring serum calcitonin into the benefit-risk equation, optimizes biochemical cure while minimizing extent of prophylactic surgery and operative morbidity in children at risk. The transformative effect that has taking effect on medical practice has been impressive: Increasingly earlier molecular diagnosis and more limited prophylactic neck operations yielded excellent clinical outcomes at expert facilities 7-16 years postoperatively: biochemical cure rates approximating 100%; absence of residual structural disease or recurrence; and rarely any permanent operative morbidity. Read More

Ann Ital Chir 2019 ;90:497-503

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

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

Clin Chem Lab Med 2019 07;57(8):1242-1250

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

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

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

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

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

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

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

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

Endocr Pathol 2019 Jun;30(2):113-117

Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, St Leonards, NSW, 2065, Australia.

C cell hyperplasia is considered a precursor lesion for hereditary forms of medullary thyroid carcinoma. It has therefore been suggested as a morphological marker to distinguish hereditary from sporadic medullary thyroid carcinoma and to triage genetic testing in resource poor settings. However, numerous definitions for C cell hyperplasia have been suggested, and there is surprisingly little data regarding the number of C cells present in thyroid glands removed for conditions other than medullary carcinoma. Read More

Best Pract Res Clin Endocrinol Metab 2018 12 28;32(6):861-875. Epub 2018 Sep 28.

EndOsMet, Endocrinology and Metabolic Bone Diseases Branch, Villa Donatello Private Hospital, Firenze, Italy; Endocrinology, Villa Alba Clinic, Villa Maria Group, Bologna, Italy. Electronic address:

While primary hyperparathyroidism (PHPT) generally represents a common endocrine disorder, being the more frequent cause of hypercalcemia in outpatients, familial forms of PHPT (FPHPT) account for no more than 2-5% of the overall PHPT. In the last decades, many technical progresses in both molecular and biochemical-radiological evaluation have been made, and substantial advancements in understanding these disorders have been reached. Differences both in the pathogenesis and clinical presentation exist among the various hyperparathyroid syndromic forms, and, since FPHPT is frequently associated to other endocrine, proliferative and/or functional disorders, as also non-endocrine tumours, with varying clinical spectrum of occurrence in each syndrome, its early clinically detection for appropriately preventing complications (i. Read More

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

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

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