New therapies for patients with multiple endocrine neoplasia type 1

Geslot, Aurore; Vialon, M.; Caron, Philippe; Grunenwald, Solange; Vezzosi, Delphine

doi:10.1016/j.ando.2021.03.005

Cited by 6 publications

(7 citation statements)

References 110 publications

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“…The approach for management includes medical therapy, surgical therapy and genetic counselling [ 1 , 3 , 4 ]. Vigilant monitoring with regular workups is required in these patients [ 5 , 6 ].…”

Section: Discussionmentioning

confidence: 99%

Multiple endocrine neoplasia type 1 with suspicion of Zollinger Ellison syndrome in a family with history of renal stones and hypercalcemia in a limited resource setting: a case report

Hussain

Nahar

Abbas

et al. 2022

Oxford Medical Case Reports

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Multiple endocrine neoplasia type 1 (MEN 1) syndrome is a rare autosomal dominant endocrine tumour syndrome, which can be diagnosed clinically based on family history and the existence of MEN 1-associated tumours or molecularly based on genetic testing. We described the case of a Hispanic 55-year-old male presenting with dysphagia, chest pain and diarrhoea for three months with a family history of hypercalcaemia and nephrolithiasis in first-degree relatives. Primary hyperparathyroidism was suggested by hypercalcaemia, elevated parathyroid hormone level, hypercalciuria, nephrolithiasis on abdominal computed tomography scan and enlarged parathyroid gland on computed tomography pulmonary angiogram. Also, patient had hypergastrinemia and a hypodense lesion in the pancreas on computed tomography scan of abdomen. These findings suggested MEN 1 syndrome with high suspicion of associated Zollinger Ellison syndrome. Our case highlights the importance of family history and high clinical suspicion in patients presenting with primary hyperparathyroidism and hypergastrinemia.

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Section: Discussionmentioning

confidence: 99%

Multiple endocrine neoplasia type 1 with suspicion of Zollinger Ellison syndrome in a family with history of renal stones and hypercalcemia in a limited resource setting: a case report

Hussain

Nahar

Abbas

et al. 2022

Oxford Medical Case Reports

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“…The most frequent is MEN1, with an incidence of 1:30,000 births. Loss of function variants in the MEN1 tumor suppressor gene cause altered functioning in endocrine tissues (most frequently hyperparathyroidism) and tumorigenesis, especially involving parathyroid glands, pituitary glands, endocrine pancreas, and less frequently non-endocrine organs and tissues [ 53 ]. MEN2 is caused by pathogenic variants of the RET gene.…”

Section: Classic Cancer Predisposition Syndromes and Clinical Phenoty...mentioning

confidence: 99%

Diagnostic Strategies and Algorithms for Investigating Cancer Predisposition Syndromes in Children Presenting with Malignancy

Rossini

Durante

Bresolin

et al. 2022

Cancers

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In the past recent years, the expanding use of next-generation sequencing has led to the discovery of new cancer predisposition syndromes (CPSs), which are now known to be responsible for up to 10% of childhood cancers. As knowledge in the field is in constant evolution, except for a few “classic” CPSs, there is no consensus about when and how to perform germline genetic diagnostic studies in cancer-bearing children. Several clinical screening tools have been proposed to help identify the patients who carry higher risk, with heterogeneous strategies and results. After introducing the main clinical and molecular features of several CPSs predisposing to solid and hematological malignancies, we compare the available clinical evidence on CPS prevalence in pediatric cancer patients and on the most used decision-support tools in identifying the patients who could benefit from genetic counseling and/or direct genetic testing. This analysis highlighted that a personalized stepwise approach employing clinical screening tools followed by sequencing in high-risk patients might be a reasonable and cost-effective strategy in the care of children with cancer.

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“…The first clinical description of the syndrome came from Paul Wermer (in 1953), while the MEN1 gene was initially sequenced in 1997 [ 76 ]. More than 1500 distinct germline and somatic pathogenic variants across the syndrome have been identified so far and continue to be identified [ 77 , 78 ].…”

Section: Introductionmentioning

confidence: 99%

“…Also, atypical scenarios are reported raising additional challenges, for instance, individuals with MEN1 manifestations but negative genetic testing, non-functioning NETs (regarding the endocrine panel) that may be more difficult to be identified early unless the carrier status is already confirmed in one individual or a family, and a very aggressive neoplasia behavior with rapid multi-organ spreading [ 96 , 98 , 99 ]. Overall, the gap between the genetic background and the expected clinical picture as well as the sporadic presentation adds more challenges to the complex panel of multiple long-term comorbidities, associated with a reduced quality of life and a general increased syndrome burden including a high mortality that comes from uncontrolled hormonal disease and metastatic tumors (mostly of pancreas origin) [ 76 , 100 , 101 ].…”

Section: Introductionmentioning

confidence: 99%

Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis, MEN1 Gene-Related Tumors, and Insulin Resistance

Carsote,

Nistor,

Gheorghe

et al. 2024

IJMS

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We aimed to provide an in-depth analysis with respect to three turning points in pancreas involvement in primary hyperparathyroidism (PHP): hypercalcemia-induced pancreatitis (HCa-P), MEN1 (multiple endocrine neoplasia)-related neuroendocrine tumors (NETs), and insulin resistance (IR). This was a comprehensive review conducted via a PubMed search between January 2020 and January 2024. HCa-P (n = 9 studies, N = 1375) involved as a starting point parathyroid NETs (n = 7) or pancreatitis (n = 2, N = 167). Case report-focused analysis (N = 27) showed five cases of pregnancy PHP-HCa-P and three reports of parathyroid carcinoma (female/male ratio of 2/1, ages of 34 in women, men of 56). MEN1-NET studies (n = 7) included MEN1-related insulinomas (n = 2) or MEN1-associated PHP (n = 2) or analyses of genetic profile (n = 3), for a total of 877 MEN1 subjects. In MEN1 insulinomas (N = 77), the rate of associated PHP was 78%. Recurrence after parathyroidectomy (N = 585 with PHP) was higher after less-than-subtotal versus subtotal parathyroidectomy (68% versus 45%, p < 0.001); re-do surgery was 26% depending on surgery for pancreatic NETs (found in 82% of PHP patients). MEN1 pathogenic variants in exon 10 represented an independent risk factor for PHP recurrence. A single pediatric study in MEN1 (N = 80) revealed the following: a PHP rate of 80% and pancreatic NET rate of 35% and 35 underlying germline MEN1 pathogenic variants (and 3/35 of them were newly detected). The co-occurrence of genetic anomalies included the following: CDC73 gene variant, glucokinase regulatory protein gene pathogenic variant (c.151C>T, p.Arg51*), and CAH-X syndrome. IR/metabolic feature-focused analysis identified (n = 10, N = 1010) a heterogeneous spectrum: approximately one-third of adults might have had prediabetes, almost half displayed some level of IR as reflected by HOMA-IR > 2.6, and serum calcium was positively correlated with HOMA-IR. Vitamin D deficiency was associated with a higher rate of metabolic syndrome (n = 1). Normocalcemic and mildly symptomatic hyperparathyroidism (n = 6, N = 193) was associated with a higher fasting glucose and some improvement after parathyroidectomy. This multilayer pancreas/parathyroid analysis highlighted a complex panel of connections from pathogenic factors, including biochemical, molecular, genetic, and metabolic factors, to a clinical multidisciplinary panel.

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New therapies for patients with multiple endocrine neoplasia type 1

Cited by 6 publications

References 110 publications

Multiple endocrine neoplasia type 1 with suspicion of Zollinger Ellison syndrome in a family with history of renal stones and hypercalcemia in a limited resource setting: a case report

Multiple endocrine neoplasia type 1 with suspicion of Zollinger Ellison syndrome in a family with history of renal stones and hypercalcemia in a limited resource setting: a case report

Diagnostic Strategies and Algorithms for Investigating Cancer Predisposition Syndromes in Children Presenting with Malignancy

Turning Points in Cross-Disciplinary Perspective of Primary Hyperparathyroidism and Pancreas Involvements: Hypercalcemia-Induced Pancreatitis, MEN1 Gene-Related Tumors, and Insulin Resistance

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