A pediatric case of insulinoma and a novel &lt;i&gt;MEN1&lt;/i&gt;          mutation: the efficacy of the combination therapy of diazoxide and          cornstarch

Nakano, Satsuki; Satô, Takeshi; Hosokawa, Mayumi; Takagi, Chisato; Yoshida, Fumiko; Ishii, Tomohiro; Sato, Seiji; Hasegawa, Tomonobu

doi:10.1297/cpe.27.197

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“…We further analyzed PAX8-PPARγ gene rearrangements in FTC, and CDKN1B gene mutation status in parathyroid adenoma, did not show any mutations (data not shown). Genetic analysis was performed as previously described [8][9][10][11][12]. Briefly, genomic DNA was extracted using a QIAamp ® DNA FFPE tissue kit (QIAGEN, Hilden, Germany) following the manufacturer's instructions.…”

Section: Case Presentationmentioning

confidence: 99%

“…Briefly, genomic DNA was extracted using a QIAamp ® DNA FFPE tissue kit (QIAGEN, Hilden, Germany) following the manufacturer's instructions. All the coding exons and the flanking introns of the exons in the MEN1 gene were analyzed by direct sequencing [8]. NF1 gene analysis were performed by a target sequencing panel with the next-generation sequencing technology [9].…”

Section: Case Presentationmentioning

confidence: 99%

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Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1

et al. 2019

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Although acromegaly has been reported in patients with Neurofibromatosis type 1 (NF1), these cases have not been associated with growth hormone (GH)-producing somatotroph adenoma, but with optic pathway glioma. A 68 year-old Japanese woman, who had been clinically diagnosed with NF1, was referred to our hospital due to a thyroid tumor and hypercalcemia. Acromegaly was suspected due to her facial features, and subsequent examinations revealed the presence of GH excess with a pituitary tumor, leading to the diagnosis of acromegaly. Histological and immunohistochemical analysis demonstrated an eosinophilic pituitary adenoma with diffuse positivity for GH, indicating typical somatotroph adenoma. In addition, her thyroid tumor was diagnosed histologically as follicular thyroid carcinoma (FTC) with primary hyperparathyroidism (PHPT). To investigate the pathogenesis of this untypical multiple endocrine tumor case of NF1, genetic analysis was performed using peripheral leukocytes and tissue of resected tumors. A heterozygous novel germline nonsense mutation (p.Arg1534*) in exon 35 of the NF1 gene was detected from peripheral leukocytes, which results in a truncated protein lacking the critical domain for GTPase activity, strongly suggesting its causal role in NF1. The loss of heterozygosity (LOH) in exon 35 of the NF1 gene was not detected in the somatotroph adenoma, parathyroid adenoma, and FTC. Although any mutations of the following genes; MEN1, CDKN1B, and PAX8-PPARγ were not detected, a heterozygous GNAS R201C mutation was detected in the somatotroph adenoma. To our knowledge, this is the first rare MEN1-like case of genetically diagnosed NF1 complicated with acromegaly caused by a somatotroph adenoma.

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