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Thyroid adenoma, hyperfunctioning, somatic

MedGen UID:
350308
•Concept ID:
C1863960
•
Neoplastic Process
Synonym: Thyroid adenoma, hyperfunctioning

Recent clinical studies

Diagnosis

Mini-invasive videoassisted thyroid lobectomy for neonatal hyperfunctioning adenoma related to a somatic TSHr gene mutation.
Stocco E, Pelizzo MR, Grassetto G, Pagetta C, Larizza D, Massaro A, Marzola MC, Rubello D
Ann Endocrinol (Paris) 2012 Jun;73(3):230-2. Epub 2012 Apr 12 doi: 10.1016/j.ando.2012.03.037. PMID: 22503667
Thyrotropin receptor mutations and thyroid hyperfunctioning adenomas ten years after their first discovery: unresolved questions.
Arturi F, Scarpelli D, Coco A, Sacco R, Bruno R, Filetti S, Russo D
Thyroid 2003 Apr;13(4):341-3. doi: 10.1089/105072503321669811. PMID: 12804102
Somatic mutations in thyroid nodular disease.
Krohn K, Paschke R
Mol Genet Metab 2002 Mar;75(3):202-8. doi: 10.1006/mgme.2001.3290. PMID: 11914031
Functioning and nonfunctioning thyroid adenomas involve different molecular pathogenetic mechanisms.
Tonacchera M, Vitti P, Agretti P, Ceccarini G, Perri A, Cavaliere R, Mazzi B, Naccarato AG, Viacava P, Miccoli P, Pinchera A, Chiovato L
J Clin Endocrinol Metab 1999 Nov;84(11):4155-8. doi: 10.1210/jcem.84.11.6157. PMID: 10566665
The molecular basis of disorders caused by defects in G proteins.
Spiegel AM
Horm Res 1997;47(3):89-96. doi: 10.1159/000185441. PMID: 9050946

Therapy

A case of autonomous cortisol secretion in a patient with subclinical Cushing's syndrome, GNAS mutation, and paradoxical cortisol response to dexamethasone.
Sakaguchi C, Ashida K, Kohashi K, Ohe K, Fujii Y, Yano S, Matsuda Y, Sakamoto S, Sakamoto R, Oda Y, Nomura M, Ogawa Y
BMC Endocr Disord 2019 Jan 22;19(1):13. doi: 10.1186/s12902-019-0345-8. PMID: 30670014Free PMC Article
Mini-invasive videoassisted thyroid lobectomy for neonatal hyperfunctioning adenoma related to a somatic TSHr gene mutation.
Stocco E, Pelizzo MR, Grassetto G, Pagetta C, Larizza D, Massaro A, Marzola MC, Rubello D
Ann Endocrinol (Paris) 2012 Jun;73(3):230-2. Epub 2012 Apr 12 doi: 10.1016/j.ando.2012.03.037. PMID: 22503667
Rarity of oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in Japan.
Takeshita A, Nagayama Y, Yokoyama N, Ishikawa N, Ito K, Yamashita T, Obara T, Murakami Y, Kuma K, Takamatsu J
J Clin Endocrinol Metab 1995 Sep;80(9):2607-11. doi: 10.1210/jcem.80.9.7673402. PMID: 7673402

Prognosis

A case of autonomous cortisol secretion in a patient with subclinical Cushing's syndrome, GNAS mutation, and paradoxical cortisol response to dexamethasone.
Sakaguchi C, Ashida K, Kohashi K, Ohe K, Fujii Y, Yano S, Matsuda Y, Sakamoto S, Sakamoto R, Oda Y, Nomura M, Ogawa Y
BMC Endocr Disord 2019 Jan 22;19(1):13. doi: 10.1186/s12902-019-0345-8. PMID: 30670014Free PMC Article
Thyrotropin receptor mutations and thyroid hyperfunctioning adenomas ten years after their first discovery: unresolved questions.
Arturi F, Scarpelli D, Coco A, Sacco R, Bruno R, Filetti S, Russo D
Thyroid 2003 Apr;13(4):341-3. doi: 10.1089/105072503321669811. PMID: 12804102
Structural studies of the thyrotropin receptor and Gs alpha in human thyroid cancers: low prevalence of mutations predicts infrequent involvement in malignant transformation.
Spambalg D, Sharifi N, Elisei R, Gross JL, Medeiros-Neto G, Fagin JA
J Clin Endocrinol Metab 1996 Nov;81(11):3898-901. doi: 10.1210/jcem.81.11.8923835. PMID: 8923835
Rarity of oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in Japan.
Takeshita A, Nagayama Y, Yokoyama N, Ishikawa N, Ito K, Yamashita T, Obara T, Murakami Y, Kuma K, Takamatsu J
J Clin Endocrinol Metab 1995 Sep;80(9):2607-11. doi: 10.1210/jcem.80.9.7673402. PMID: 7673402

Clinical prediction guides

Primary culture of cells from hyperfunctioning thyroid adenoma with an activating mutation of G alphas.
Kamiya Y, Murakami M, Yanagita Y, Koitabashi H, Nagamachi Y, Hosoi Y, Ogiwara T, Mizuma H, Iriuchijima T, Mori M
Mol Cell Endocrinol 1998 Mar 16;138(1-2):137-42. doi: 10.1016/s0303-7207(98)00011-2. PMID: 9685222
Structural studies of the thyrotropin receptor and Gs alpha in human thyroid cancers: low prevalence of mutations predicts infrequent involvement in malignant transformation.
Spambalg D, Sharifi N, Elisei R, Gross JL, Medeiros-Neto G, Fagin JA
J Clin Endocrinol Metab 1996 Nov;81(11):3898-901. doi: 10.1210/jcem.81.11.8923835. PMID: 8923835
Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas.
Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont J, Vassart G
Nature 1993 Oct 14;365(6447):649-51. doi: 10.1038/365649a0. PMID: 8413627

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