Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts

Koyama, Nobuyuki; Nagase, Terumasa; Kure, Masahiko; Odaka, Tomotada; Kogure, Koichiro; Takeda, Yukihisa; Ishii, Tomoya; Narisawa, Kenichiro; Fujita, Tomoyuki; Fujimori, Minoru; Katsura, Yoshiya

doi:10.2169/internalmedicine.7505-21

Cited by 1 publication

(5 citation statements)

References 23 publications

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“…At a lower level of statistical evidence, we mention the sample-focused analysis of case reports with regard to the parathyroid and pancreatic MEN1-NETs having a specified genetic confirmation of the MEN1 pathogenic variant (regardless of if the type was detailed by the original authors) [68,73,75,77,81,97,100,[116][117][118][119][120][121][122][123][124][125][126][127][128][129][130][131][132] (Table 6). There were 24 MEN1 subjects (including index cases with genetic analysis for their relatives) within 24 papers; they were aged between 17 years (only two pediatric cases were found) and 74 years; the female-to-male ratio was 0.84.…”

Section: Case Studiesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…There were 24 MEN1 subjects (including index cases with genetic analysis for their relatives) within 24 papers; they were aged between 17 years (only two pediatric cases were found) and 74 years; the female-to-male ratio was 0.84. The female population (N = 11) had an average age of 43.63 years (ranges between 28 and 60); males (N = 13) had a mean age of 40.07 years (ranges between 17 and 74) [ 68 , 73 , 75 , 77 , 81 , 97 , 100 , 116 , 117 , 118 , 119 , 120 , 121 , 122 , 123 , 124 , 125 , 126 , 127 , 128 , 129 , 130 , 131 , 132 ].…”

Section: Introductionmentioning

confidence: 99%

“…The exceptional hormonal spectrum in the field of ACTH (Adrenocorticotropic Hormone) involved an ectopic (paraneoplastic) ACTH syndrome in a case with pancreatic and thymic NETs [ 121 ], the co-diagnosis of ACTH-independent macronodular hyperplasia (with cortisol excess) in a young lady with MEN1 [ 119 ], and bilateral adrenal tumors with subclinical Cushing’s syndrome in another adult [ 122 ].…”

Section: Introductionmentioning

confidence: 99%

“…Case studies (one patient per article) addressing the clinical presentation in MEN1 patients diagnosed with pancreatic NETs and primary hyperparathyroidism and having a genetic confirmation of the MEN1 pathogenic variant (according to our methods of literature research)[68,73,75,77,81,97,100,[116][117][118][119][120][121][122][123][124][125][126][127][128][129][130][131][132].…”

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confidence: 99%

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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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