Absence of somatic RET gene mutation in sporadic parathyroid tumors and hyperplasia secondary to uremia, and absence of somatic MEN1 gene mutation in MEN2A-associated hyperplasia

Uchino, Shigehiko; Noguchi, Shiro; Nagatomo, M.; Sato, Mari; Yamashita, Hirot.; Yamashita, Hiroy.; Watanabe, Shin; Murakami, Tsukasa; Toda, Masakatsu; Wakiya, Shigeko; Adachi, Mitsuo

doi:10.1016/s0753-3322(00)80023-2

Cited by 17 publications

(8 citation statements)

References 21 publications

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“…Interestingly, an association between somatic MEN1 mutations and mild PHPT symptoms has been observed, possibly arguing for early-stage events in parathyroid tumorigenesis [55]. Moreover, while somatic CDC73 gene mutations have been reported in small subsets of sporadic parathyroid adenomas, no reports on somatic RET gene mutations in parathyroid adenoma have been noted [35,56,57].…”

Section: Somatic Genetics In Parathyroid Adenomasmentioning

confidence: 99%

Genomics and Epigenomics in Parathyroid Neoplasia: from Bench to Surgical Pathology Practice

Juhlin

Erickson

2020

Endocr Pathol

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The majority of parathyroid disease encountered in routine practice is due to single parathyroid adenoma, of which the majority arise as sporadic tumors. This is usually a straightforward diagnosis in endocrine pathology when in the appropriate clinical setting, although subsets of cases will exhibit atypical histological features that may warrant additional immunohistochemical and genetic analyses to estimate the malignant potential. Parathyroid carcinomas on the other hand, are bona fide malignant tumors characterized by their unequivocal invasion demonstrated through routine histology or metastasis. The ultimate endpoint for any molecular marker discovered through laboratory investigations is to be introduced in clinical routine practice and guide the surgical pathologist in terms of diagnostics and prognostication. For parathyroid tumors, the two main diagnostic challenges include the distinction between parathyroid adenoma and parathyroid carcinoma, as well as the pinpointing of hereditable disease for familial screening purposes. While numerous markers on genetic, epigenetic, and protein levels have been proposed as discriminative in these aspects, this review aims to condense the scientific coverage of these enigmatic topics and to propose a focused surgical pathology approach to the subject.

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Section: Somatic Genetics In Parathyroid Adenomasmentioning

confidence: 99%

Genomics and Epigenomics in Parathyroid Neoplasia: from Bench to Surgical Pathology Practice

Juhlin

Erickson

2020

Endocr Pathol

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“…The main gene identified for five of six PHPT syndromes has important applications beyond its syndrome. For example, somatic mutation of some of these genes (MEN1, CDC73, CDKN1B) can be a tumor driver in parathyroid tissue [49,70,71,99]; this is rare or not seen in the sporadic parathyroid with other FH genes (CASR, GNA11, AP2S1, RET, GCM2) [120][121][122][123].…”

Section: Relevance Of the Fh Genes Beyond Their Syndromesmentioning

confidence: 99%

Familial Hyperparathyroidism – Disorders of Growth and Secretion in Hormone-Secretory Tissue

Marx

Lourenço

2017

Horm Metab Res

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Six syndromes of familial hyperparathyroidism are compared: 1) Familial hypocalciuric hypercalcemia (FHH) expresses primary hyperparathyroidism (PHPT) beginning at birth with lifelong hypercalcemia. There is nonsuppressed PTH secretion from outwardly normal parathyroid glands. It reflects germline heterozygous mutation in or. 2) Neonatal severe primary hyperparathyroidism is severest of the six syndromes. It requires urgent total parathyroidectomy in infancy. It usually reflects biallelic inactivation of the 3) Multiple endocrine neoplasia type 1 (MEN1) is most frequently expressed as PHPT with asymmetric enlargement of 3-4 parathyroids. Benign or malignant tumors may occur among 30 other tissues. It is predisposed by germline inactivation of or rarely by inactivation of a cyclin dependent kinase inhibitor, and then termed MEN4. 4) Multiple endocrine neoplasia type 2A from activating mutation rarely presents as familial hyperparathyroidism, because medullary thyroid cancer and pheochromocytoma are more prominent. 5) Hyperparathyroidism-jaw tumor syndrome (HPT-JT) has frequent PHPT and benign jaw tumors. Twenty percent develop parathyroid cancer. It is predisposed by inactivating mutation in. 6) Familial isolated hyperparathyroidism causes multiple parathyroid tumors. It can be an incomplete expression of FHH, MEN1, HPT-JT or even of relatives without a shared driver mutation. However, in 20% of families it reflects activating mutation. Five of the PHPT syndromes reflect overgrowth of parathyroid tissue; in contrast, familial hypocalciuric hypercalcemia reflects dysregulation of PTH secretion with little or no parathyroid overgrowth. These differences underlie major differences in clinical expression.

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“…In addition to point mutations, a few cases of somatic gene deletions have been reported (Elisei et al, 2007;Romei et al, 1996;Ceccherini et al 1997). Somatic RET point mutations are also found in nearly 10% of sporadic PHEO (Eng et al, 1994;Romei et al, 1996;Beldjord et al, 1995;Lindor et al, 1995; but not in hyperPTH Padberg et al, 1995;Pausova et al 1996;Uchino et al, 2000). Few years ago, a correlation between the presence of a somatic RET mutation and a more aggressive phenotype of the sporadic MTC was reported by several groups (Romei et al, 1996;Zedenius et al, 1998;Zedenius et al, 1995;Schilling et al, 2001).…”

Section: Ret Screening In Patients Presenting With Apparently Sporadimentioning

confidence: 99%

RET point mutations in Thyroid Carcinoma

Elisei¹,

Romei²,

Cosci³

et al. 2011

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Absence of somatic RET gene mutation in sporadic parathyroid tumors and hyperplasia secondary to uremia, and absence of somatic MEN1 gene mutation in MEN2A-associated hyperplasia

Cited by 17 publications

References 21 publications

Genomics and Epigenomics in Parathyroid Neoplasia: from Bench to Surgical Pathology Practice

Genomics and Epigenomics in Parathyroid Neoplasia: from Bench to Surgical Pathology Practice

Familial Hyperparathyroidism – Disorders of Growth and Secretion in Hormone-Secretory Tissue

RET point mutations in Thyroid Carcinoma

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