Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence

Akhtar, Yasmin; Verardo, Angela; Crane, Janet L.

doi:10.1186/s13633-018-0061-6

Cited by 4 publications

(2 citation statements)

References 13 publications

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“…Инсулинома при МЭН1 диагностируется в молодом возрасте (30-35 лет, приблизительно на 10 лет раньше, чем при спорадической инсулиноме) и очень редко в детском. Необходимо отметить, что в большинстве случаев правильный диагноз устанавливается с запозданием, часто спустя несколько лет после появления первых признаков гипогликемического синдрома [4][5][6][7][8][9].…”

Section: герминальные мутации ассоциированные с инсулиномойunclassified

Genetic predictors of insulin-producing pancreatic tumor

Юкина¹,

Nuralieva²,

Трошина³

2019

Alʹm. klin. med.

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Insulinoma is the most common functioning tumor of the pancreas. Approximately 5% of its cases are associated with the multiple endocrine neoplasia syndrome type 1 (MEN1), caused by mutation in the MEN1 gene. MEN1 can be manifested by pituitary and parathyroid adenomas, pancreatic neuroendocrine tumors, tumors of the thyroid gland, adrenals, intestine, carcinoids of lungs and other organs. However, in 5–10% of the patients with clinical manifestation of this syndrome, MEN1 mutations cannot be identified. Moreover, the disease can be caused by various abnormalities (mutations, polymorphisms, etc.) in other genes. More than 30 genes, associated with insulin-producing pancreatic tumors, have been described in the literature. With a known germinal mutation, the prognosis and management of patients with insulinoma can be determined by the hereditary disease with which the tumor is associated. The article emphasizes the need to search for new genetic markers that predispose to the development of insulinoma. The necessity of extended genetic testing of patients with insulinomas is discussed, primarily of young patients with multifocal lesions, family history and associated disorders.

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Section: герминальные мутации ассоциированные с инсулиномойunclassified

Genetic predictors of insulin-producing pancreatic tumor

Юкина¹,

Nuralieva²,

Трошина³

2019

Alʹm. klin. med.

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“…Insulinomas are the most frequent functioning endocrine pancreatic tumors, which may present malignant behavior in 10% of the cases and be associated with Multiple Endocrine Neoplasia type 1 (MEN1) in another 4–6% [ 12 ]. The recurrence rate in these is significantly higher after treatment, reaching about 21% in 10–20 years, whereas this rate in insulinomas not associated with MEN1 varies from 5 to 7% in 20 years [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

Surgical resection of pancreatic insulinoma during pregnancy: Case report and literature review

Neto

Lira

Albuquerque

et al. 2019

International Journal of Surgery Case Reports

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Highlights Insulinomas represent an unusual but usually curable cause of hypoglycemia. Surgery is still the only possibly curative treatment for pancreatic neuroendocrine tumors. There are a limited number of cases of insulinoma treated during pregnancy. In all reported cases, both the woman and the child experienced good results.

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Search for germinal mutations in insulin-producing pancreatic tumors

Yukina,

Troshina,

Nuralieva

et al. 2024

Obes. metabol.

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BACKGROUND: It is known that insulinoma in approximately 5% of cases is associated with multiple endocrine neoplasia type 1 syndrome (MEN1), in which the prognosis and management tactics of patients have been developed in detail. The diagnosis of MEN1 often does not require genetic confirmation, since the syndrome has a typical clinical picture. At the same time, a combination of this tumor with other hereditary syndromes is found in the literature, which are characterized by the presence of malignant neoplasms of various localizations, primary multiple lesions, hormonal and other disorders. Thus, it is relevant to search for the genetic causes that cause the development of insulinoma, in addition to MEN1.AIM: to evaluate the frequency of detection of genetic causes of the development of insulin-producing tumors of the pancreas, in addition to MEN1; to analyze the phenotypic characteristics of patients with such tumors.MATERIALS AND METHODS: Based on the analysis of literature for the period up to 2020, a panel has been developed that includes coding regions of 10 genes (MEN1, VHL, TSC1, TSC2, KRAS, YY1, CDKN2A, MLH1, ADCY1, CACNA2D2) involved in the development of insulinoma. In 32 patients diagnosed with insulinoma, verified by pathomorphological examination, with the absence of clinical and/or genetic data indicating MEN1 syndrome, a panel of genes was sequenced with subsequent analysis of the identified genetic variants and phenotypic data obtained from the medical records of patients. In one patient, an additional molecular genetic study of the «Endom» panel was performed, revealing genetic variants of coding regions of 377 genes associated with endocrine diseases.RESULTS: In 8 patients (25%, 95% CI (11%; 43%)), 9 variants of mutations were identified that were not classified as benign, at that two mutations in the TSC2 gene were detected in one patient. Frequencies of genetic variants: TSC2 — 13%, 95% CI (4%; 29%), MEN1 — 6% (1%; 21%), MLH1 — 3% (0%;16%), CDKN2A/P16INK4A — 3% (0%;16%). When comparing patients with the identified mutation, with the exception of benign (n=8), and patients without mutation or with a benign mutation (n=24), there were no differences in the Grade (degree of differentiation), Ki67 proliferation index, frequency of concomitant tumors, burdened history, multiple pancreatic lesions or recurrence of insulinoma, however, patients with germinal mutation were found at the level of statistical trend to be younger at the manifestation of insulinoma and to have bigger tumors. In a patient who underwent an additional molecular genetic study using the new «Endome» panel, previously undescribed gene variants (APC and KIF1B) associated with various sporadic tumors, including endocrine ones, were identified.CONCLUSION: A panel of 10 genes has been developed, mutations of which are associated with insulinoma. A relatively high incidence of genetically determined insulinoma was determined (25% of cases), in half of cases — against the background of tuberous sclerosis. We consider it relevant to evaluate the effectiveness of genetic testing for patients with insulinoma. We believe that, first of all, patients with a high risk of hereditary pathology should be examined: with the manifestation of the disease at a young age and with a large tumor. The identification of a genetic mutation will make it possible to determine the prognosis of the disease, optimize the monitoring algorithm in order to timely identify concomitant diseases-components of the hereditary syndrome, and conduct genetic counseling of the family.

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Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence

Cited by 4 publications

References 13 publications

Genetic predictors of insulin-producing pancreatic tumor

Genetic predictors of insulin-producing pancreatic tumor

Surgical resection of pancreatic insulinoma during pregnancy: Case report and literature review

Search for germinal mutations in insulin-producing pancreatic tumors

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