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  • multiple endocrine neoplasia 2A syndrome x
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Francesca Orsolini Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Alessandro Prete Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Pierpaolo Falcetta Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Domenico Canale Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Fulvio Basolo Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy

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Greta Alì Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy

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Francesca Manassero Division of Urology, Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy

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Paolo Vitti Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Rossella Elisei Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Eleonora Molinaro Department of Clinical and Experimental Medicine, Endocrine Unit, University of Pisa, Pisa, Italy

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Introduction Multiple endocrine neoplasia 2A (MEN2A) syndrome is an autosomal dominant disorder that includes medullary thyroid carcinoma (MTC), pheochromocytoma and hyperparathyroidism. MTC is the most common manifestation (90–100%) of MEN2A

Article Type:
Case Report
Collections:
Thyroid cancer - clinical
DOI:
https://doi.org/10.1530/ETJ-21-0016
Volume/Issue:
Volume 11: Issue 2
Open access
Abbas Al-Kurd Department of Surgery, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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David J. Gross Neuroendocrine Tumor Unit, Department of Endocrinology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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David Zangen Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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Karine Atlan Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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Haggi Mazeh Department of Surgery, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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Simona Grozinsky-Glasberg Neuroendocrine Tumor Unit, Department of Endocrinology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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–460. 10.1038/363458a0 8099202 2 Grozinsky-Glasberg S, Gross DJ: The multiple endocrine neoplasia syndromes; in Yalcin S, Öberg K (eds): Neuroendocrine Tumours: Diagnosis and Management. Berlin, Heidelberg, Springer Berlin Heidelberg, 2015, pp 317

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000489170
Volume/Issue:
Volume 7: Issue 5
Free access
R. Elisei Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy

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M. Alevizaki Endocrine Unit, Department of Medical Therapeutics, Athens University School of Medicine, Athens, Greece

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B. Conte-Devolx Department of Endocrinology, La Timone Hospital, Aix Marseille University, Marseille, France

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K. Frank-Raue Endocrine Practice, Molecular Laboratory, Heidelberg, Germany

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V. Leite Department of Endocrinology, Portuguese Institute of Oncology and CEDOC, Faculty of Medical Sciences, Lisbon, Portugal

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G.R. Williams Molecular Endocrinology Group, Department of Medicine, Hammersmith Hospital, Imperial College London, London, UK

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disease occurs in the youngest affected children [ 13 , 14 , 15 ]. In hereditary cases, MTC is one of the components of multiple endocrine neoplasia type 2 (MEN 2) syndrome, an autosomal dominant inherited syndrome with a variable phenotype displaying an

Article Type:
Guideline
DOI:
https://doi.org/10.1159/000346174
Volume/Issue:
Volume 1: Issue 4
Free access
Minoru Kihara Departments of Surgery, Kobe, Japan

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Akira Miyauchi Departments of Surgery, Kobe, Japan

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Hiroshi Yoshida Research, Kuma Hospital, Kobe, Japan

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Osamu Yamada Departments of Surgery, Kobe, Japan

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Hiroo Masuoka Departments of Surgery, Kobe, Japan

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Tomonori Yabuta Departments of Surgery, Kobe, Japan

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Takuya Higashiyama Departments of Surgery, Kobe, Japan

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Mitsuhiro Fukushima Departments of Surgery, Kobe, Japan

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Yasuhiro Ito Departments of Surgery, Kobe, Japan

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Kaoru Kobayashi Departments of Surgery, Kobe, Japan

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Akihiro Miya Departments of Surgery, Kobe, Japan

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sporadic or hereditary variant [ 1 ]. Hereditary MTC arises as a component of multiple endocrine neoplasia (MEN) type 2A or 2B or as familial MTC (FMTC). These are genetic tumor syndromes caused by germline mutations in the RET proto-oncogene and are

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000369134
Volume/Issue:
Volume 3: Issue 4
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Thomas Szabo Yamashita Department of Surgery, Mayo Clinic, Rochester, Minnesota, USA

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Fady J. Baky Department of Surgery, Mayo Clinic, Rochester, Minnesota, USA

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Travis J. McKenzie Department of Surgery, Mayo Clinic, Rochester, Minnesota, USA

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Geoffrey B. Thompson Department of Surgery, Mayo Clinic, Rochester, Minnesota, USA

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David R. Farley Department of Surgery, Mayo Clinic, Rochester, Minnesota, USA

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Melanie L. Lyden Department of Surgery, Mayo Clinic, Rochester, Minnesota, USA

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Benzon M. Dy Department of Surgery, Mayo Clinic, Rochester, Minnesota, USA

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Introduction Cowden syndrome (multiple hamartoma syndrome) is an autosomal dominant, inherited cancer syndrome associated with a mutation in the PTEN tumor suppressor gene. While Cowden syndrome is the most common inherited PTEN mutation

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000506422
Volume/Issue:
Volume 9: Issue 5
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Francesca Carlomagno Dipartimento di Biologia e Patologia Cellulare e Molecolare L. Califano, Università degli Studi di Napoli Federico II, Napoli, Italia

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;10:509–513. 7845675 22 Ponder BA: The phenotypes associated with ret mutations in the multiple endocrine neoplasia type 2 syndrome. Cancer Res 1999;59:1736s–1741s. 23 Elisei R, Cosci B, Romei C, Bottici V, Renzini G, Molinaro E, Agate L, Vivaldi A

Article Type:
Review Article
DOI:
https://doi.org/10.1159/000336975
Volume/Issue:
Volume 1: Issue 1
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Haggi Mazeh Department of Surgery, Jerusalem, Israel

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Amir Orlev Department of Surgery, Jerusalem, Israel

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Ido Mizrahi Department of Surgery, Jerusalem, Israel

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David J. Gross Endocrinology and Metabolism Service Hadassah-Hebrew University Medical Center, Jerusalem, Israel

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Herbert R. Freund Department of Surgery, Jerusalem, Israel

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part of the autosomal dominant inherited multiple endocrine neoplasia (MEN) type 2 syndrome or familial MTC in about 20-25% of cases and as a sporadic tumor in the remainder [ 2 , 3 ]. Concurrent appearance of medullary, follicular, and papillary

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000368750
Volume/Issue:
Volume 4: Issue 1
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Thomas Karrasch Department of Internal Medicine III, Giessen University Hospital, Giessen

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Saskia M. Herbst Center for and Institute of Human Genetics, University of Regensburg, Regensburg, Germany

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Ute Hehr Center for and Institute of Human Genetics, University of Regensburg, Regensburg, Germany

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Andreas Schmid Department of Internal Medicine III, Giessen University Hospital, Giessen

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Andreas Schäffler Department of Internal Medicine III, Giessen University Hospital, Giessen

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during transfection). Missense mutations within exon 14 including p.Val804Met are known to cause FMTC and multiple endocrine neoplasia type 2a/b (MEN2a/b). However, the clinical significance of novel missense variants within this hotspot region of exon 14

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000443730
Volume/Issue:
Volume 5: Issue 1
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Laura Moss Velindre Cancer Centre, Velindre University NHS Trust, Cardiff, United Kingdom

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Catrin Cox Centre for Trials Research, Cardiff University, Cardiff, United Kingdom

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Jonathan Wadsley Weston Park Cancer Centre, Sheffield, United Kingdom

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Kate Newbold The Royal Marsden NHS Foundation Trust, London, United Kingdom

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Mark W.J. Strachan Western General Hospital, Edinburgh, United Kingdom

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Maralyn Druce Barts and the London School of Medicine and Dentistry, London, United Kingdom

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Neil Tolley Imperial College Healthcare NHS Trust, London, United Kingdom

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Kathryn Graham Beatson Oncology Centre, Glasgow, United Kingdom

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Sarah Jefferies Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom

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Lydia Fresco University Hospitals Coventry and Warwickshire NHS Trust, Coventry, United Kingdom

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Suganya Sivabalasingham University College Hospital NHS Foundation Trust, London, United Kingdom

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Alistair Balfour East Kent Hospitals University NHS Foundation Trust, Canterbury, United Kingdom

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Chris Hurt Centre for Trials Research, Cardiff University, Cardiff, United Kingdom

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as a sporadic tumour in approximately 75% of cases and as an inherited disease in 25% [ 3 ]. Inherited cases are associated with multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B (MEN2B), and familial MTC (FMTC

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000509227
Volume/Issue:
Volume 10: Issue 1
Free access
Else Marie Opsahl Section of Breast and Endocrine Surgery, Department of Oncology, Oslo University Hospital, Oslo, Norway
Institute of Clinical Medicine, University of Oslo, Oslo, Norway

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Lars Andreas Akslen Section for Pathology, Department of Clinical Medicine, Centre for Cancer Biomarkers CCBIO, University of Bergen, Bergen, Norway
Department of Pathology, Haukeland University Hospital Bergen, Bergen, Norway

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Ellen Schlichting Section of Breast and Endocrine Surgery, Department of Oncology, Oslo University Hospital, Oslo, Norway

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Turid Aas Department of Breast and Endocrine Surgery, Haukeland University Hospital, Bergen, Norway

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Katrin Brauckhoff Department of Breast and Endocrine Surgery, Haukeland University Hospital, Bergen, Norway

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Anne Irene Hagen Department of Breast and Endocrine Surgery, St. Olavs University Hospital, Trondheim, Norway

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Alf Frimann Rosenlund Section of Breast and Endocrine Surgery, Department of Surgery, University Hospital of North Norway, Tromsø, Norway

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Eva Sigstad Department of Pathology, Oslo University Hospital, Oslo, Norway

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Krystyna K. Grøholt Department of Pathology, Oslo University Hospital, Oslo, Norway

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Lovise Mæhle Department of Medical Genetics, Oslo University Hospital, Oslo, Norway

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Lars Fredrik Engebretsen Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
Department of Medical Genetics, St. Olavs University Hospital, Trondheim, Norway

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Lars H. Jørgensen Department of Thoracic Surgery, Oslo University Hospital, Oslo, Norway

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Jan Erik Varhaug Department of Clinical Science, University of Bergen, Bergen, Norway

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Trine Bjøro Institute of Clinical Medicine, University of Oslo, Oslo, Norway
Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway

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multiple endocrine neoplasia type 2A . Nature . 1993 Jun ; 363 ( 6428 ): 458 – 60 . 10.1038/363458a0 8099202 0028-0836 7 Eng C , Smith DP , Mulligan LM , Nagai MA , Healey CS , Ponder MA , et al. Point mutation within the

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000493977
Volume/Issue:
Volume 8: Issue 1
Free access