title: A novel mutation of thyroid hormone receptor β in exon 10 in a case of thyroid hormone-resistant non-Hodgkin's lymphoma of the thyroid.
abstract: Only a few previous studies have demonstrated an association between resistance to thyroid hormone (RTH) and thyroid cancer. The current study presents the case of a 67-year-old female who was referred to the Third Xiangya Hospital of Central South University with an enlargement of the neck that had grown gradually over two years and subsequently, rapidly enlarged over the two months prior to admission, alongside a slight sensation of shortness of breath. Laboratory data revealed a significantly increased level of thyroid-stimulating hormone (TSH), total triiodothyronine, total thyroxine, free triiodothyronine, free thyroxine, thyroprotein and thyroglobulin antibody; however, the levels of thyroperoxidase and TSH receptor antibody were within the normal ranges. A thyroid hormone suppression test revealed a TSH reduction of 32%, Magnetic resonance imaging of the pituitary gland was negative for abnormalities. The patient's thyroid pathology revealed a non-Hodgkin's lymphoma of the thyroid. CHOP + nimustine chemotherapy significantly reduced the clinical symptoms. The genetic analysis revealed a novel point mutation of the thyroid hormone receptor β (THRB) gene in exon 10 (g1680 G to A) in the 3'-untranslated region of the patient. To the best of our knowledge, this is the first case report of RTH with thyroid non-Hodgkin's lymphoma, which involved a mutation (g1680 G to A) in exon 10 of THRB.
authors.affiliation: Department of Endocrinology, Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
authors.forename: Ke
authors.initials: K
authors.lastname: Chen
authors.affiliation: Department of Endocrinology, Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
authors.forename: Yanhong
authors.initials: Y
authors.lastname: Xie
authors.affiliation: Department of Endocrinology, Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
authors.forename: Liling
authors.initials: L
authors.lastname: Zhao
authors.affiliation: Department of Endocrinology, Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
authors.forename: Shaoli
authors.initials: S
authors.lastname: Zhao
authors.affiliation: Department of Endocrinology, Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
authors.forename: Honghui
authors.initials: H
authors.lastname: He
authors.affiliation: Department of Endocrinology, Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
authors.forename: Zhaohui
authors.initials: Z
authors.lastname: Mo
keywords: mutation; thyroid hormone receptor β; thyroid non-Hodgkin’s lymphoma; thyroid resistance syndrome