Multiple endocrine neoplasia type 1

Thakker, R V

doi:10.4103/2230-8210.104058

Cited by 21 publications

(1 citation statement)

References 15 publications

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“…Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to inactivating mutations of the MEN1 gene on chromosome 11q13. MEN1 mutations are scattered within and around the menin open reading frame and are mainly represented by nonsense, deletions/ insertions, splice site or missense mutations which can be detected readily by direct sequencing of genomic DNA [1,2]. MEN1 germline mutations are identified in 70 % of the familial forms and in 10 % of sporadic cases, while in almost 20 % of clinically affected patients MEN1 gene analysis fails to detect germline mutations (cases that are termed MEN1 phenocopies) [3].…”

Section: Introductionmentioning

confidence: 99%

Deletion of exons 1–3 of the MEN1 gene in a large Italian family causes the loss of menin expression

et al. 2014

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Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to inactivating mutations of the MEN1 gene (chromosome 11q13). MEN1 mutations are mainly represented by nonsense, deletions/insertions, splice site or missense mutations that can be detected by direct sequencing of genomic DNA. However, MEN1 patients with large heterozygous deletions may escape classical genetic screening and may be misidentified as phenocopies, thereby hindering proper clinical surveillance. We employed a real-time polymerase chain reaction application, the TaqMan copy number variation assay, to evaluate a family in which we failed to identify an MEN1 mutation by direct sequencing, despite a clear clinical diagnosis of MEN1 syndrome. Using the TaqMan copy number variation assay we identified a large deletion of the MEN1 gene involving exons 1 and 2, in three affected family members, but not in the other nine family members that were to date clinically unaffected. The same genetic alteration was not found in a group of ten unaffected subjects, without family history of endocrine tumors. The MEN1 deletion was further confirmed by multiplex ligation-dependent probe amplification, which showed the deletion extended from exon 1 to exon 3. This new approach allowed us to correctly genetically diagnose three clinical MEN1 patients that were previously considered as MEN1 phenocopies. More importantly, we excluded the presence of genetic alterations in the unaffected family members. These results underline the importance of using a variety of available biotechnology approaches when pursuing a genetic diagnosis in a clinically suggestive setting of inherited endocrine cancer.

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Section: Introductionmentioning

confidence: 99%

Deletion of exons 1–3 of the MEN1 gene in a large Italian family causes the loss of menin expression

et al. 2014

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Algorithmic approach to neuroendocrine tumors in targeted biopsies: Practical applications of immunohistochemical markers

Duan

Mete

2016

Cancer Cytopathology

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Neuroendocrine tumors (NETs) constitute a heterogeneous group of neoplasms with distinct biological behaviors, depending on the site of origin and the degree of tumor proliferation. Although advances in biochemical and radiological modalities have enhanced the ability to detect NETs, tissue diagnosis remains the gold standard to assess tumor characteristics for treatment decision making. In an era with growing demands for precision diagnostics based on smaller tissue samples, immunohistochemistry has become an indispensable tool in the pathologist's repertoire. In conjunction with clinical findings and cytomorphology, complementary use of 1) markers of neuroendocrine differentiation, 2) markers confirming epithelial nature, 3) markers of cellular proliferation, 4) transcription factors and hormonal markers, as well as 5) predictive and prognostic markers may be necessary to guide patient management in NETs. The current review summarizes common applications of these immunohistochemical markers when confronted with a potential neuroendocrine neoplasm, and proposes a stepwise algorithmic approach to avoid diagnostic errors in targeted biopsies. Cancer Cytopathol 2016;124:871-84. V C 2016 American Cancer Society.

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The Multiple Endocrine Neoplasia Syndromes

Grozinsky‐Glasberg

Gross

2015

Neuroendocrine Tumours

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The term multiple endocrine neoplasia (MEN) refers to hereditary neoplastic disorder involving more than one endocrine organ and includes the MEN type 1 (MEN1), the MEN type 2 (MEN2), and the familial medullary thyroid carcinoma (FMTC). The estimated frequency of each of these syndromes is around 1 in 30,000 and is characterized by complete penetrance with variable expression [ 1 , 2 ]. The recent progress in our knowledge of both the molecular and the clinical genetics of these syndromes has improved the clinical management of the patients [ 3 ]. On the one hand, the MEN1 gene, a tumor suppressor gene responsible of MEN1 syndrome, is involved in the regulation of several cell functions (e.g., DNA replication and repair and transcriptional machinery). On the other hand, the RET proto-oncogene encodes for a receptor tyrosine kinase protein whose expression is fundamental for appropriate migration, development, and differentiation of neuroendocrine cells originating from neural crest [ 4 ]. Currently, DNA testing allows the early identifi cation of germline mutations in presymptomatic mutant gene carriers in the MEN syndromes [ 5 ]. Consequently, an early identifi cation of the MEN-associated neoplasms and the genotype-phenotype correlation improve the outcome and the quality of life for affected subjects [ 6 ].

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Multiple endocrine neoplasia type 1

Cited by 21 publications

References 15 publications

Deletion of exons 1–3 of the MEN1 gene in a large Italian family causes the loss of menin expression

Deletion of exons 1–3 of the MEN1 gene in a large Italian family causes the loss of menin expression

Algorithmic approach to neuroendocrine tumors in targeted biopsies: Practical applications of immunohistochemical markers

The Multiple Endocrine Neoplasia Syndromes

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