Jes Sloth Mathiesen

A Protocolled Implementation of Upfront Ultrasound, A Stepwise Pre‐Operative Imaging Regimen in Primary Hyperparathyroidism

Vanessa Dedeic, Oke Gerke, Mette Bay, Jes Sloth Mathiesen et autres

OBJECTIVE: To evaluate the sensitivity of a stepwise preoperative imaging regimen for patients with primary hyperparathyroidism. STUDY DESIGN: Prospective cohort study. SETTING: A high-volume tertiary referral center for parathyroidectomy. METHODS: Patients with primary hyperparathyroidism referred for parathyroidectomy underwent surgeon-performed ultrasound as the …

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Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

Donato Iacovazzo, Federica Begalli, Oniz Suleyman, Márton Doleschall et autres

Abstract While most individuals with familial medullary thyroid carcinoma (fMTC) carry RET mutations, in some instances the causative mutations remain unknown. We studied two related families with RET -negative fMTC in 21 affected individuals through linkage analysis, exome/genome sequencing, and high-density array …

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RET C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Study

Anders Würgler Hansen, Peter Vestergaard, Morten Møller Poulsen, Åse Krogh Rasmussen et autres

Background: Multiple endocrine neoplasia type 2A (MEN 2A) is a rare hereditary cancer syndrome caused by pathogenic variants in the rearranged during transfection (RET) gene and is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), primary hyperparathyroidism (PHPT), cutaneous lichen amyloidosis (CLA), …

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Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study

Magnus Holm, Peter Vestergaard, Morten Poulsen, Åse Krogh Rasmussen et autres

Studies of primary hyperparathyroidism (PHPT) in multiple endocrine neoplasia type 2A (MEN 2A) shows divergence in frequency, disease definition, reporting of clinical characteristics and traces of selection bias. This is a nationwide population-based retrospective study of PHPT in MEN 2A, suggesting a …

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Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2

Anna Reimer Hansen, Line Borgwardt, Åse Krogh Rasmussen, Christian Godballe et autres

Activating variants in the receptor tyrosine kinase REarranged during Transfection (RET) cause multiple endocrine neoplasia type 2 (MEN 2), an autosomal dominantly inherited cancer-susceptibility syndrome. The variant c.166C>A, p.Leu56Met in RET was recently reported in two patients with medullary thyroid cancer (MTC). …

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Multiple endocrine neoplasia type 2: A review

Jes Sloth Mathiesen, Grigoris Effraimidis, Maria Rossing, Åse Krogh Rasmussen et autres

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Maternal and fetal outcomes in phaeochromocytoma and pregnancy: a multicentre retrospective cohort study and systematic review of literature

Irina Bancos, Elizabeth J. Atkinson, Charis Eng, William F. Young et autres

BACKGROUND: Phaeochromocytoma or paraganglioma (collectively known as PPGL) in pregnant women can lead to severe complications and death due to associated catecholamine excess. We aimed to identify factors associated with maternal and fetal outcomes in women with PPGL during pregnancy. METHODS: We …

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Preimplantation Genetic Testing of Multiple Endocrine Neoplasia Type 2A

Anders Würgler Hansen, Laura Roos, Kristine Løssl, Christian Godballe et autres

Background: When discussing matters of reproduction, the 2015 revised guidelines for the management of medullary thyroid carcinoma recommend that patients diagnosed with multiple endocrine neoplasia type 2A (MEN 2A) are informed about the option of Preimplantation Genetic Testing for Monogenic Disorders (PGT-M). …

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Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study

Louise Vølund Larsen, Delphine Mirebeau‐Prunier, Tsuneo Imai, Cristina Álvarez‐Escolá et autres

OBJECTIVE: Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are …

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Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients

Jes Sloth Mathiesen, Søren Grønlund Nielsen, Åse Krogh Rasmussen, Katalin Kiss et autres

BACKGROUND: 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 REarranged during Transfection (RET) mutation may be caused by additional …

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Incidental and Non-incidental Papillary Thyroid Microcarcinoma in Denmark 1996–2015: A national study on incidence, outcome and thoughts on active surveillance

Rasmus Reinke, Jes Sloth Mathiesen, Stine Rosenkilde Larsen, Christoffer Holst Hahn et autres

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Noninvasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features is Rare: A Population Based Study of Incidence

Rasmus Reinke, Stine Rosenkilde Larsen, Jes Sloth Mathiesen, Christian Godballe et autres

The renaming of encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC) to noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) was proposed by a group of experts in 2016 to prevent overtreatment of indolent, low-risk thyroid cancers. The aim of this …

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