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Special Issue "Multiple Endocrine Neoplasia: Basic and Clinical Findings"

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A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Medical Research".

Deadline for manuscript submissions: closed (25 November 2022) | Viewed by 4000

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Dr. Pietro Di Fazio

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Department of Visceral, Thoracic and Vascular Surgery, University Hospital Marburg, 35043 Marburg, Germany
Interests: cell death; solid cancer; neuro-endocrine; epigenetics
Special Issues, Collections and Topics in MDPI journals

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Dear Colleagues,

Multiple endocrine neoplasia is an inherited gene aberration affecting the worldwide population. It is responsible for the development of neoplastic lesions of the human endocrine system. Up to now, the role exerted by the genes MEN1 and MEN2 is still under investigation, and their mechanism of action is not fully understood yet. We are in urgent need to focus on their activity in order to acquire knowledge on their aberrant implication in tumorigenesis, and further clinical aspects need to be highlighted. I strongly encourage submission regarding basic and clinical science findings about multiple endocrine neoplasia and its possible implication in cancer development and cellular homeostasis.

Dr. Pietro Di Fazio
Guest Editor

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Keywords

MEN1
MEN2
neoplasia
clinical experience
molecular aspects

Published Papers (3 papers)

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8 pages, 244 KiB

Open AccessEditor’s ChoiceArticle

Multiglandular Parathyroid Disease

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Life 2022, 12(8), 1286; https://doi.org/10.3390/life12081286 - 22 Aug 2022

Cited by 3 | Viewed by 1205

Abstract

Introduction: Multiglandular parathyroid disease (MGD) is an uncommon cause of primary hyperparathyroidism (pHPT) and has been reported in the literature in 8–33% of patients with pHPT. The aim of our study was to review the clinical characteristics and management of MGD and evaluation of surgical treatment failures. Methods: We performed a retrospective study of 163 patients with pHPT undergoing parathyroidectomy (PTX) at the Department of General and Endocrine Surgery between 1983 and 2018. All these patients were diagnosed with MGD. This group of patients was compared with a group of 856 patients with solitary disease operated for pHPT in the same period. Results: Among 163 patients—127 (79%) of them had two lesions, 28 (16%) had three, and 8 (5%) four. They were prevalently women over the age of 50. The diagnosis was based on PTH and ionized calcium studies and used sestamibi technetium-99m scintigraphy (MIBI) as well for us. Treatment was surgical. Conclusions: Parathyroidectomy (PTX) for multiglandular parathyroid disease (MGD) is associated with a higher operative risk of failure compared to solitary disease. Preoperative diagnosis and localization of the parathyroid glands is an extremely important element of treatment. Diagnosis is based on PTH and calcium levels. Ultrasonography (USG), MRI, and scintigraphy are very helpful in diagnosis. Mediastinal multiglandular parathyroid disease (MGD) is associated with increased surgical treatment failures. The treatment is surgical and consists of the removal of the masses or complete parathyroidectomy. Based on this study, we support the existence of multiple adenomas and advocate the removal of only macroscopically enlarged parathyroid glands in patients with primary hyperparathyroidism. Full article

(This article belongs to the Special Issue Multiple Endocrine Neoplasia: Basic and Clinical Findings)

8 pages, 243 KiB

Open AccessArticle

Medullary Thyroid Carcinoma and Associated Endocrinopathies in Slovenia from 1995 to 2021

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Life 2022, 12(7), 1091; https://doi.org/10.3390/life12071091 - 21 Jul 2022

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Abstract

Background: Medullary thyroid cancer (MTC) is a rare endocrine tumour that is sporadic in 75% of cases and occurs as a part of inherited cancer syndromes in approximately 25% of cases. The aim of this study was to determine the frequency and type of RET pathogenic variants (PVs) in the Slovenian MTC patient population diagnosed between 1995 and 2021 and to elucidate the full range of associated endocrinopathies. Methods: A retrospective analysis of medical records of 266 MTC patients and their relatives seen in a tertiary centre between 1995 and 2021 was performed. Sequence analysis of exons 10, 11, 13, 14, 15, and 16 of the RET gene was analysed in most patients using Sanger sequencing. From 2017, the entire sequence of RET gene was analysed in most patients using targeted next-generation sequencing. Results: Germline PVs in the RET proto-oncogene were identified in 21.6% probands from 21 different MTC families. Of their tested relatives, 65% (67/103) were RET-positive and 35% (36/103) were RET-negative. PVs were detected in codon 618 and codon 634 in 28.6%, and in codon 790 in 23.8%. The RET-positive group consisted of 52 MTC patients, 13 patients with C cell hyperplasia and 2 individuals with neither. Associated endocrinopathies were diagnosed in 8/21 families: primary hyperparathyroidism (PHPT) in six families and pheochromocytoma (PHEO) in five families. In 62% of RET-positive families (13/21), no associated endocrinopathies were diagnosed. PHEO was most commonly associated with C634R (6/13) and PHPT with C634R (4/7). Hirschsprung’s disease appeared in one patient with RET PV in codon 618. Based on data from the Cancer Registry of Republic of Slovenia, only individual cases of common cancers with well understood environmental risk factors were discovered; lung cancer in 2/21 of families, papillary thyroid cancer in 3/21 of families, cutaneous melanoma in 2/21 of families, cervical cancer in 1/21 families, and lymphoma in 1/21 families. Conclusions: Analysis of prospectively collected MTC cases during a 27-year period revealed that 21.6% of Slovenian patients are RET PV carriers. Sixty-two percent of families had none of the associated endocrinopathies, confirming the thesis that FMTC is the most common presentation. This could suggest using risk-stratified management approaches when screening for PHEO and PHPT in RET PV carriers. However, more studies are needed to evaluate potential genetic risk modifiers as well as safety, improved quality of life, and medical cost reduction in the case of a patient-oriented approach. Full article

(This article belongs to the Special Issue Multiple Endocrine Neoplasia: Basic and Clinical Findings)

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14 pages, 741 KiB

Open AccessSystematic Review

Outcome of Partial Adrenalectomy in MEN2 Syndrome: Personal Experience and Systematic Review of Literature

Priscilla Francesca Procopio

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Life 2023, 13(2), 425; https://doi.org/10.3390/life13020425 - 02 Feb 2023

Viewed by 1082

Abstract

Background: Partial adrenalectomy (PA) is an alternative option to total adrenalectomy for the treatment of hereditary pheochromocytoma (PHEO) to preserve cortical function and avoid life-long steroid replacement. The aim of this review is to summarize current evidence in terms of clinical outcome, recurrence, and corticosteroid therapy implementation after PA for MEN2-PHEOs. Material and Methods: From a total of 931 adrenalectomies (1997–2022), 16 of the 194 patients who underwent surgical treatment of PHEO had MEN2 syndrome. There were six patients scheduled for PA. MEDLINE^®, EMBASE^®, Web of Science, and Cochrane Library were searched for English studies from 1981 to 2022. Results: Among six patients who underwent PA for MEN2-related PHEO in our center, we reported two with bilateral synchronous disease and three with metachronous PHEOs. One recurrence was registered. Less than 20 mg/day Hydrocortison therapy was necessary in 50% of patients after bilateral procedures. Systematic review identified 83 PA for MEN2-PHEO. Bilateral synchronous PHEO, metachronous PHEO and disease recurrence were reported in 42%, 26%, and 4% of patients, respectively. Postoperative steroid implementation was necessary in 65% of patients who underwent bilateral procedures. Conclusions: PA seems to be a safe and valuable option for the treatment of MEN2-related PHEOs, balancing the risk of disease recurrence with the need for corticosteroid therapy. Full article

(This article belongs to the Special Issue Multiple Endocrine Neoplasia: Basic and Clinical Findings)

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