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Endocrine 2022 May 17. Epub 2022 May 17.

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

Purpose: The objective of this study was to provide RET genotype-specific data on recurrent ipsilateral pheochromocytoma in multiple endocrine neoplasia type 2A (MEN2A), which are sparse.

Methods: Kaplan-Meier analyses were performed to determine the risk of recurrent ipsilateral adrenalectomy after subtotal and total adrenalectomy in 221 carriers of RET p.Cys634 missense mutations. Read More

Front Endocrinol (Lausanne) 2022 29;13:864253. Epub 2022 Mar 29.

Department of Clinical and Experimental Medicine, Endocrine Unit, University Hospital of Pisa, Pisa, Italy.

Medullary thyroid carcinoma (MTC) is a neuroendocrine malignant tumor originating from parafollicular C-cells producing calcitonin. Most of cases (75%) are sporadic while the remaining (25%) are hereditary. In these latter cases medullary thyroid carcinoma can be associated (multiple endocrine neoplasia type IIA and IIB) or not (familial medullary thyroid carcinoma), with other endocrine diseases such as pheochromocytoma and/or hyperparathyroidism. Read More

Front Endocrinol (Lausanne) 2022 28;13:829103. Epub 2022 Feb 28.

Department of Pathology, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Galician Healthcare Service (SERGAS), Santiago de Compostela, Spain.

Thyroid cancer is the malignant tumor that is increasing most rapidly in the world, mainly at the expense of sporadic papillary thyroid carcinoma. The somatic alterations involved in the pathogenesis of sporadic follicular cell derived tumors are well recognized, while the predisposing alterations implicated in hereditary follicular tumors are less well known. Since the genetic background of syndromic familial non-medullary carcinoma has been well established, here we review the pathogenesis of non-syndromic familial non-medullary carcinoma emphasizing those aspects that may be useful in clinical and pathological diagnosis. Read More

Proc Jpn Acad Ser B Phys Biol Sci 2022 ;98(3):112-125

International Center for Cell and Gene Therapy, Fujita Health University.

The RET proto-oncogene encodes a receptor tyrosine kinase whose alterations are responsible for various human cancers and developmental disorders, including thyroid cancer, non-small cell lung cancer, multiple endocrine neoplasia type 2, and Hirschsprung's disease. RET receptors are physiologically activated by glial cell line-derived neurotrophic factor (GDNF) family ligands that bind to the coreceptor GDNF family receptor α (GFRα). Signaling via the GDNF/GFRα1/RET ternary complex plays crucial roles in the development of the enteric nervous system, kidneys, and urinary tract, as well as in the self-renewal of spermatogonial stem cells. Read More

Asian J Surg 2022 05 9;45(5):1143-1144. Epub 2022 Mar 9.

Department of Pathology, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address:

Probl Endokrinol (Mosk) 2021 11 15;68(1):8-17. Epub 2021 Nov 15.

Saint Petersburg State University, Saint Petersburg State University Hospital.

The widespread introduction of genetic testing in recent years has made it possible to determine that more than a third of cases of pheochromocytomas and paragangliomas (PPPGs) are caused by germline mutations. Despite the variety of catecholamine-producing tumors manifestations, there is a sufficient number of clinical and laboratory landmarks that suggest a hereditary genesis of the disease and even a specific syndrome. These include a family history, age of patient, presence of concomitant conditions, and symptoms of the disease. Read More

Ther Adv Chronic Dis 2022 25;13:20406223221079246. Epub 2022 Feb 25.

Section Head, Endocrine Surgery and Oncology, Division of General Surgery, Sprott Department of Surgery, Toronto General Hospital, University Health Network, 200 Elizabeth Street, Toronto, ON M5G 2C4, Canada.

This review article discusses the diagnosis and treatment of patients with multiple endocrine neoplasia type 2 (MEN2). The most common tumors associated with MEN2 are those of the parathyroid, thyroid, and adrenal glands. Additional manifestations include characteristic clinical phenotypes or features as described in the article. Read More

Bone 2022 Jun 26;159:116373. Epub 2022 Feb 26.

Bone Biology division, Garvan Institute of Medical Research, Sydney, Australia; Clinical School, St Vincent's Hospital, Faculty of Medicine, University of New South Wales Sydney, Sydney, Australia; Department of Endocrinology and Diabetes, St Vincent's Hospital, Sydney, Australia.

Purpose: Diabetes and fractures are both associated with increased mortality, however the effect of the combination is not well-established. We examined the mortality risk following all types of fractures in type 2 diabetes (T2D).

Methods: In the Dubbo Osteoporosis Epidemiology Study (1989-2017), participants were grouped according to T2D and/or incident fracture. Read More

Int J Clin Oncol 2022 May 21;27(5):992-1000. Epub 2022 Feb 21.

La Paz Hospital Institute for Health Research (IdiPAZ), Madrid, Spain.

Introduction: Approximately 10% of pediatric patients with cancer have an inherited, sometimes masked, cancer predisposition syndrome (CPS). Identifying patients with genetic susceptibility to malignant disease is essential for their correct diagnosis and clinical management.

Materials And Methods: Here, we present the workflow and experience of a multidisciplinary cancer predisposition unit focused on pediatric patients with cancer. Read More

Eur J Endocrinol 2022 Feb 25;186(4):469-476. Epub 2022 Feb 25.

Department of Visceral, Vascular and Endocrine Surgery, Medical Faculty, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.

Objective: This study aimed to delineate the age-dependent clinical penetrance and expression of heterozygous rearranged during transfection (RET) missense mutations associated with multiple endocrine neoplasia 2A (MEN2A) according to parental inheritance.

Design: This was an observational study of RET carriers operated for MEN2A-associated tumors between 1985 and 2021.

Methods: Kaplan-Meier time-to-event and multivariable Cox proportional hazards regression analyses were performed on node metastases from medullary thyroid cancer, pheochromocytoma, bilateral pheochromocytoma, and primary hyperparathyroidism. Read More

Minerva Endocrinol (Torino) 2022 Feb 1. Epub 2022 Feb 1.

Endocrinology Department, Instituto Português De Oncologia Do Porto Francisco Gentil, Porto, Portugal.

Purpose: Due to the low incidence and heterogeneous behaviour of medullary thyroid carcinoma (MTC), its prognostic factors are still not well stablished. While several large studies have investigated the impact of gender in differentiated thyroid cancer (DTC), its role in MTC outcomes remains controversial. We aim to identify MTC prognostic features, specially focusing on the role of gender. Read More

Clin Nucl Med 2022 Mar;47(3):e284-e286

From the Nuclear Medicine Research Center, Mashhad University of Medical Science, Mashhad.

Abstract: A patient with multiple endocrine neoplasia type 2A syndrome who had exhausted several surgeries and radiotherapy was referred to nuclear medicine department for theranostic approaches. [68Ga]-DOTATATE PET/CT and [131I]I-mIBG SPECT/CT were performed, but the degree of uptake was insufficient for using the treatment companion of these tracers. Finally, 1 year later, [68Ga]-FAPI-46 PET/CT showed progressive disease with metastases to the lung, liver, bone, and lymph nodes with intense [68Ga]-FAPI-46 uptake. Read More

Oxf Med Case Reports 2021 Nov-Dec;2021(11-12):omab122. Epub 2021 Dec 28.

Division of Endocrinology and Metabolism, Atrium Health Wake Forest Baptist Medical Center, Winston-Salem 27157, USA.

Hirschprung's disease co-occurs with multiple endocrine neoplasia type 2A infrequently but at a higher rate with certain RET mutations. We present a case of a patient evaluated for an adrenal incidentaloma with a history of familial Hirschprung's. Our patient was found to have synchronous pheochromocytoma and medullary thyroid carcinoma illustrating the importance of genetic testing in these patients to determine appropriate screening for endocrine tumors. Read More

Front Endocrinol (Lausanne) 2021 1;12:764512. Epub 2021 Dec 1.

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

Activating variants in the receptor tyrosine kinase arranged during ransfection (RET) cause multiple endocrine neoplasia type 2 (MEN 2), an autosomal dominantly inherited cancer-susceptibility syndrome. The variant c.166C>A, p. Read More

Ann Endocrinol (Paris) 2022 Apr 16;83(2):114-118. Epub 2021 Dec 16.

Hôpital Haut-Lévêque, CHU de Bordeaux, Endocrinology Department, 33600 Pessac, France.

Medullary thyroid cancer (MTC) is a rare form of thyroid cancer, frequently linked to a germline or somatic mutation in the RET proto-oncogene. MTC has a good prognosis at the localized stage but prognosis is worse in case of metastases, although there is considerable heterogeneity in progression even in advanced stages. Classical chemotherapy shows little efficacy in this type of cancer. Read More

Korean J Intern Med 2022 Mar 15;37(2):398-410. Epub 2021 Dec 15.

Department of Biomedicine and Health Science, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Background/aims: Germline mutations of the rearranged during transfection (RET) gene cause multiple endocrine neoplasia type 2 (MEN2). About 85% of RET mutations in MEN2 occur in codon Cys634. The RET D631Y mutation has recently been discovered, and we have studied its molecular expression and clinical consequences. Read More

Eur J Endocrinol 2022 Jan 6;186(2):223-231. Epub 2022 Jan 6.

Universitätsklinikum Halle, Halle, Germany.

Aim: Calcitonin (Ctn) measurement in patients with thyroid disease could potentially increase the detection rates of medullary thyroid carcinoma (MTC) but remains a controversial issue. The aim of this study was to evaluate routine preoperative Ctn measurements.

Methods: All patients with thyroid surgery documented in the prospective StuDoQ|Thyroid registry between March 2017 and September 2020 were included. Read More

World J Surg 2022 03 2;46(3):591-599. Epub 2021 Dec 2.

Department of Endocrine Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raibareli Rd, Lucknow, Uttar Pradesh, 226014, India.

Objective: To compare clinical, biochemical, tumoural and mutational characteristics of Von Hippel Lindau Syndrome (VHL)-associated pheochromocytoma (PCC) to multiple endocrine neoplasia 2A (MEN2A)-associated pheochromocytoma.

Design: Retrospective study design in a tertiary health care centre in Northern India.

Methods: A total of 47 patients with biochemical and histologically proven pheochromocytoma/paraganglioma (PCC/PGL): 29 associated with VHL and 18 with MEN2A, were divided in two cohorts, respectively. Read More

Front Endocrinol (Lausanne) 2021 11;12:703410. Epub 2021 Nov 11.

Department of Neurosurgery, Nippon Medical School, Tokyo, Japan.

To the best of our knowledge, we report a case of MEN2A complicated by moyamoya syndrome. A 52-year-old woman presented with vertigo. Magnetic resonance angiography (MRA) revealed bilateral supraclinoid stenosis of the internal carotid artery and abnormal moyamoya-like vessels around the basal ganglia. Read More

Dtsch Med Wochenschr 2021 11 26;146(23):1527-1532. Epub 2021 Nov 26.

Medizinische Klinik und Poliklinik IV, LMU Klinikum, Ludwig-Maximilians-Universität München, Deutschland.

Medullary thyroid cancer (MTC) is infrequently found among all thyroid nodules in previously iodine deficient regions. Measurement of serum calcitonin is an important tool for early identification of MTC among the large number of thyroid nodules. With the use of modern laboratory assays and sex-specific reference intervals, clinical diagnostic specificity has considerably improved. Read More

IJU Case Rep 2021 Nov 4;4(6):347-350. Epub 2021 Jul 4.

Department of Urology Osaka University Graduate School of Medicine Suita Japan.

Introduction: Although bilateral pheochromocytoma is prevalent in patients with multiple endocrine neoplasia type 2, extra-adrenal tumors rarely occur in the aortocaval area.

Case Presentation: A 35-year-old man with multiple endocrine neoplasia type 2A ( codon Cys634Arg mutation) underwent bilateral adrenalectomy for metachronous pheochromocytoma. After bilateral adrenalectomy, urinary metanephrines decreased below the measurement sensitivity. Read More

J Mol Model 2021 Nov 2;27(11):337. Epub 2021 Nov 2.

Department of Neurology, Ezhou Central Hospital, Hubei, 436000, China.

Targeted drug therapies represent a therapeutic breakthrough in the treatment of human cancer. However, the emergence of acquired resistance inevitably compromises therapeutic drugs. Rearranged during transfection (RET) proto-oncogene, which encodes a receptor tyrosine kinase, is a target for several kinds of human cancer such as thyroid, breast, and colorectal carcinoma. Read More

Int J Mol Sci 2021 Oct 18;22(20). Epub 2021 Oct 18.

F.I.R.M.O. Fondazione Italiana Ricerca sulle Malattie dell'Osso (Italian Foundation for the Research on Bone Diseases), 50141 Florence, Italy.

Parathyroid tumors are rare endocrine neoplasms affecting 0.1-0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases), intermediate atypical parathyroid adenomas (aPAs; 1. Read More

Fam Cancer 2021 Oct 22. Epub 2021 Oct 22.

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

There are no data on the impact of parent-of-origin effects on the expression of multiple endocrine neoplasia type 2A (MEN2A). The present study aimed to explore effects of parent-of-origin and offspring gender in MEN2A. In total, 224 carriers harbored heterozygous RET (REarranged during Transfection) p. Read More

Curr Opin Oncol 2022 01;34(1):1-8

Department of Endocrinology.

Purpose Of Review: Systemic treatment is the only therapeutic option for patients with progressive, metastatic medullary thyroid cancer (MTC). Since the discovery of the rearranged during transfection (RET) proto-oncogene (100% hereditary, 60-90% sporadic MTC), research has focused on finding effective systemic therapies to target this mutation. This review surveys recent findings. Read More

Front Endocrinol (Lausanne) 2021 29;12:718418. Epub 2021 Sep 29.

Department of Endocrinology, Diabetology and Metabolism, Endocrine Tumour Center at West German Cancer Center, University of Duisburg-Essen, Essen, Germany.

Background: The tyrosine kinase inhibitors (TKI) vandetanib and cabozantinib are approved as targeted therapies in advanced medullary thyroid carcinoma (MTC) with symptoms or high tumour burden. Only recently, toxicity in long-time TKI usage was analysed. However, little is known about the impact of TKI discontinuation on MTC disease course after longer-term therapy. Read More

Eur J Cancer 2021 Oct 11;158:38-46. Epub 2021 Oct 11.

Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Background: Medullary thyroid carcinoma (MTC) in the context of multiple endocrine neoplasia type 2 (MEN2) is caused by mutations in the RET proto-oncogene. Therefore, in children with MEN2 and advanced MTC, the RET tyrosine kinase (TK) pathway is a target for treatment with selpercatinib, a selective RET TK inhibitor.

Patients And Methods: A retrospective review of the clinical, genetic, biochemical (calcitonin and carcinoembryonic antigen [CEA]) and imaging data of six medically untreated children with MEN2 and recurrent and or progressive MTC. Read More

Endocrine 2022 Feb 12;75(2):478-486. Epub 2021 Oct 12.

Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Context: RET p.V804M is classified as a moderate risk mutation for familial medullary thyroid cancer (FMTC). There is a significant controversy on the management of patients carrying this mutation. Read More

Exp Ther Med 2021 Nov 22;22(5):1345. Epub 2021 Sep 22.

Department of Obstetrics and Gynecology, 'Carol Davila' University of Medicine and Pharmacy, 050474 Bucharest, Romania.

This review provides a brief clinically relevant review of pheochromocytoma in pregnancy, to raise awareness among doctors in obstetrics and the aim is to serve as the first point of reference when confronted by their presence. Pheochromocytomas are neuroendocrine, catecholamine-secreting tumours. Despite having the highest incidence rate among other hormone-secreting adrenal tumours, they remain rare especially when associated with pregnancy. Read More

J Pediatr Endocrinol Metab 2022 Jan 1;35(1):1-10. Epub 2021 Oct 1.

Department of Pediatric Surgery, University General Hospital "ATTIKON", National and Kapodistrian University of Athens School of Medicine, Athens, Greece.

Medullary thyroid carcinoma (MTC) is a distinct type of malignant thyroid tumor in cell origin, biological behavior, and natural history. It accounts for 1.6% of all thyroid cancers and presents either sporadically or as a hereditary disease, the latter occurring as a part of multiple endocrine neoplasia (MEN) 2A and MEN2B syndromes or as a familial MTC disease with no other manifestations. Read More