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

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

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

Expert Rev Endocrinol Metab 2010 Nov;5(6):867-874

a Endocrine Practice and Molecular Laboratory, Brückenstr. 21, 69120 Heidelberg, Germany.

Medullary thyroid carcinoma (MTC) is the main component of the autosomal dominant cancer syndrome multiple endocrine neoplasia type 2 (MEN 2). MEN 2 is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. In RET-mutation carriers, an age-related progression has been documented from normal C-cells to premalignant C-cell hyperplasia and finally to MTC with or without cervical lymph node metastases. Read More

Endocr Connect 2019 Feb 1. Epub 2019 Feb 1.

A Maia, INTERNAL MEDICINE, UNIVERSIDADE FEDERAL DO RIO GRANDE DO SUL, Porto Alegre, 90035-003, 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 tumours. Several reports have demonstrated that the RET mutation profile may vary according to 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

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

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

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

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

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

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

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

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

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

Medizinische Universitätsklinik, Universitätsklinikum Freiburg, Freiburg, Deutschland.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

A A Pract 2018 Aug 7. Epub 2018 Aug 7.

From the Departments of Anesthesiology and.

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

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

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

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

Endocr Connect 2018 Jul 26. Epub 2018 Jul 26.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Department of Pathology, Institut Curie, Paris, France.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Singapore Med J 2017 12;58(12):721-722

Department of Medicine, Khoo Teck Puat Hospital, Singapore.

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

Histopathology 2018 Jan;72(1):70-81

Massachusetts General Hospital, Boston, MA, USA.

The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Read More