Abstract:
:Two main types of RET/PTC oncogene, named RET/PTC-1 and 3, occur in papillary thyroid carcinomas especially in those from Belarus children after the Chernobyl nuclear accident. Several variants of RET/PTC-3 have also been found, having different break points with respect to the classical RET/PTC-3. To our knowledge, no variant of RET/PTC-1 has been described up to now. We found a post-Chernobyl papillary thyroid carcinoma with an RET/PTC-1 rearrangement characterized by a transcript longer than expected. Sequence analysis of the PCR product obtained after RT-PCR revealed new fusion points between H4 and RET genes. The genomic sequence showed new breakpoints in both H4 intronic and in RET exonic regions. The RET gene breakpoint occurred within exon 11, at variance with the classical form of RET/PTC-1, in which it is in intron 11. As a consequence of this new fusion point, the transcript included 132 nucleotides of exon 11, coding for 44 amino acids of RET protein. Regarding the H4 gene, the classical breakpoint is in the first intron and the cDNA contains a fragment of 339 nucleotides. In our case the cDNA had a longer fragment of H4 involving a total of 1266 nucleotides. Sequencing of genomic DNA revealed a rearrangement breakpoint at position 886 of a new H4 intron located downstream of the 1266 coding region. Furthermore, as a consequence of the activation of a cryptic splicing site, 132 nucleotides of this intron were spliced between the H4 and RET genes. Sequence analysis of the new chimera showed that the original frames of H4 and RET were joint with the intronic sequence without disruption of the open reading frame (ORF). Moreover, the genomic DNA of this case showed transforming activity in the DNA-mediated transfection assay using NIH-3T3 cells. In conclusion, we describe here the first variant of RET/PTC-1 oncogene, which we have termed 'long'-PTC-1, characterized by new breakpoints of both genes involved in the rearrangement and having transforming activity. Similar to previously reported PTC-3 variants, long-PTC-1 has been found in a post-Chernobyl papillary thyroid carcinoma confirming that RET/PTC rearrangements other than the classical forms (RET/PTC-1 and -3) are specifically associated with radiation-induced papillary thyroid cancer.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Elisei R,Romei C,Soldatenko PP,Cosci B,Vorontsova T,Vivaldi A,Basolo F,Cherstvoy ED,Pinchera A,Pacini Fdoi
10.1046/j.1365-2265.2000.01046.xkeywords:
subject
Has Abstractpub_date
2000-07-01 00:00:00pages
131-6issue
1eissn
0300-0664issn
1365-2265pii
cen1046journal_volume
53pub_type
杂志文章abstract::Growth hormone release-inhibiting hormone (GHR-IH) was administered to five patients with abnormal pituitary-adrenal function. There was immediate suppression by about 50% of ACTH levels in two patients who had undergone bilateral adrenalectomy because of Cushing's disease; one of them had Nelson's syndrome. Bromocryp...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1976.tb02831.x
更新日期:1976-03-01 00:00:00
abstract:OBJECTIVES:Mutations in the dual oxidase 2 gene (DUOX2) is the most common genetic cause of congenital hypothyroidism (CH) in Japan. All previously described DUOX2 mutation-carrying families have followed autosomal recessive inheritance. We report a nonconsanguineous Japanese family harbouring biallelic DUOX2 mutations...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12622
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVE AND DESIGN:The immediate early gene locus AP-1, incorporating the cellular oncogenes c-fos and c-jun (and their oncoprotein products Fos and Jun respectively) play a key role in regulating cell growth and differentiation. The myc-gene is also known to promote cell growth. In order to investigate the possible ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb02453.x
更新日期:1994-01-01 00:00:00
abstract:OBJECTIVE:Abnormal serum liver function tests are common in patients with untreated thyrotoxicosis, even prior to the initiation of antithyroidal medications that may worsen the severity of the abnormal serum liver biochemistries. There is a wide range of the incidence of these abnormalities in the published literature...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13312
更新日期:2017-05-01 00:00:00
abstract::We report a patient with unilateral thyroid carcinoma, who developed hyperfunction of the thyroid gland during the metastatic progression of the thyroid carcinoma. Concurrently with this event, TSI increased and it is suggested that the differentiated aggressive metastatic thyroid neoplasm had initiated the autoimmune...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb01837.x
更新日期:1994-11-01 00:00:00
abstract:OBJECTIVE:Recombinant IGF-I is now available for the treatment of GH insensitivity (Laron syndrome). We have determined the effects of IGF-I on soft connective tissue and bone metabolism in a group of patients with this disorder. PATIENTS AND DESIGN:Thirteen patients with Laron syndrome (LS) (8 children and 5 adults) ...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2265.1996.7990809.x
更新日期:1996-10-01 00:00:00
abstract:OBJECTIVE:Microprolactinomas have been reported to resolve spontaneously after pregnancy and there have been suggestions that oestrogen therapy increases the size of microprolactinomas. Little is known, however, about the effect of the menopause in patients previously known to be hyperprolactinaemic. The aim of this st...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01190.x
更新日期:2001-03-01 00:00:00
abstract::We studied the circadian rhythm and the response of the hypothalamic-pituitary-adrenal (HPA) axis to ovine corticotrophin releasing hormone (oCRH) stimulation and dexamethasone suppression in 32 children with grade II-III marasmus. Children were studied prior to and after nutritional rehabilitation. Mean baseline plas...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb00886.x
更新日期:1990-04-01 00:00:00
abstract::Two female patients with functioning adrenocortical carcinomas had plasma ACTH detectable by RIA at presentation. In both patients there was evidence for biological activity of ACTH. There was no evidence for an ectopic source of ACTH, nor for a pituitary tumour. Urinary steroid analysis showed patterns of multiple ho...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1988.tb00249.x
更新日期:1988-07-01 00:00:00
abstract:CONTEXT:Patients with primary adrenal insufficiency (PAI) and patients with congenital adrenal hyperplasia (CAH) receive weight-adapted standard glucocorticoid replacement therapy. Clinically, some patients appear more sensitive to therapeutic administration of glucocorticoids than others. Glucocorticoid sensitivity is...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12096
更新日期:2013-06-01 00:00:00
abstract:OBJECTIVE:Final adult height is determined by both childhood and pubertal growth. The later is a function of growth velocity and bone maturation, and both are regulated by growth hormone. In a study of the safety and efficacy of GH therapy, we analysed the impact of age on bone maturation and predicted adult height. P...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb02553.x
更新日期:1994-09-01 00:00:00
abstract:OBJECTIVE:Uncontrolled hypothyroidism has been associated with an increased risk of adverse pregnancy outcomes. We aimed to assess the effectiveness of increasing levothyroxine (LT4) dose on reducing the risk of adverse outcomes for pregnant women with TSH level greater than the recommended 1st trimester limit. DESIGN...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13168
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:The impact of exogenous GH on thyroid function remains controversial although most data add support to a stimulation of peripheral T4 to T3 conversion. For further elucidation we evaluated iodothyronine and circadian TSH levels in GH-deficient patients as part of a GH dose-response study. PATIENTS:Eight GH-d...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb01826.x
更新日期:1994-11-01 00:00:00
abstract::The response of plasma immunoreactive met-enkephalin (IR-met-enkephalin) to ethanol (8 g by mouth) after chlorpropamide (250 mg daily for 14 d) was studied in three groups of non-insulin dependent diabetics (a) six diabetics who showed chlorpropamide alcohol flush (CPAF) and in whom the reaction could be blocked by in...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb01386.x
更新日期:1984-11-01 00:00:00
abstract::We describe a 40-year-old male with acromegaly, multiple and recurrent cutaneous myxomas, spotty cutaneous pigmentation, a mammary myxoma, a large-cell calcifying Sertoli cell tumour of the testis, and an unusual calcifying pigmented neuroectodermal tumour. He presented a combination of clinical and histological featu...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb03605.x
更新日期:1986-11-01 00:00:00
abstract:CONTEXT:Previous studies suggested that plasma aldosterone (PAC) response to ACTH stimulation could predict the subtypes of primary aldosteronism (PA) and avoid adrenal venous sampling (AVS). OBJECTIVE:Assess the usefulness of peripheral (P) PAC response to ACTH stimulation during AVS to identify the source of aldoste...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14137
更新日期:2020-03-01 00:00:00
abstract::The association of invasive fibrous thyroiditis (IFT) with foci of extracervical fibrosclerosis is well recognized. Affected sites include the retroperitoneum, the mediastinum, the biliary tract, and the orbit. The development of subcutaneous fibrosclerosis, however, is extremely rare. We report a patient with known i...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.1941028.x
更新日期:1997-07-01 00:00:00
abstract::We have employed a syngeneic system utilizing thyroid cell monolayers initiated following thyroid surgery co-cultured with autologous T cells to demonstrate T cell autosensitization in patients with Graves' disease. Antigen-induced blastogenesis was monitored using 24 h [3H]thymidine uptake. Control experiments with 5...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb01077.x
更新日期:1985-02-01 00:00:00
abstract:OBJECTIVE:Adrenal crises are potentially life-threatening complications in patients with adrenal insufficiency (AI). Our objective was to investigate the frequency of adrenal crises in different forms of AI. DESIGN/PATIENTS:The Statutory Health Insurance (SHI) database of the Techniker Krankenkasse - covering more tha...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13043
更新日期:2016-09-01 00:00:00
abstract::Administration of the anti-inflammatory drug fenclofenac (600 mg bd) for 28 days to four females with thyrotoxicosis resulted in a rapid decline in thyroid hormone levels. The mean total thyroxine (T4) level of 173 +/- 8.6 (SEM) nmol/l before therapy was normalized to 70 +/- 6.4 nmol/l after administration of the drug...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.1982.tb00729.x
更新日期:1982-04-01 00:00:00
abstract:BACKGROUND:Between 10 and 30% of the fine needle aspiration biopsies (FNABs) of thyroid nodules are diagnosed as 'indeterminate'. A molecular diagnostic method is needed to reduce unnecessary surgery in this group. In Korea, most thyroid cancer is the classic papillary type and the BRAF(V600E) mutation is highly preval...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02646.x
更新日期:2006-11-01 00:00:00
abstract:BACKGROUND:Adrenal vein sampling (AVS) failure is mainly due to right adrenal vein unavailability. Multinomial regression modelling (MRM) and left adrenal vein-to-peripheral vein ratio (LAV/PV) were proposed to predict the lateralization index without the right AVS. OBJECTIVE:To assess external validity of MRM and LAV...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14295
更新日期:2020-12-01 00:00:00
abstract:OBJECTIVE:Insulin resistance has been linked to intrauterine growth restriction; adiponectin is a strong determinant of insulin sensitivity. We aimed at studying the contributions of birthweight and insulin sensitivity to circulating adiponectin in children born small for gestational age (SGA). DESIGN:Cross-sectional,...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02102.x
更新日期:2004-09-01 00:00:00
abstract:OBJECTIVE:To analyse the effectiveness of age on HbA1c as a criterion for the diagnosis of diabetes in Chinese different age subjects. METHODS:This retrospective study enrolled a total of 1147 outpatients with untreated newly diagnosed diabetes (aged 18-80 years, 42·55% women) from the Fujian Province, China, and 427 ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12494
更新日期:2015-02-01 00:00:00
abstract::In a prospective controlled trial we investigated the effect of an induction dose of etomidate (0.26 mg/kg i.v.) on plasma ACTH, progesterone, 17 alpha OH-progesterone, 11-deoxycortisol, cortisol, cortisone, corticosterone, 11-deoxycorticosterone, and aldosterone in seven males undergoing general anaesthesia. Seven ot...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.1985.tb03241.x
更新日期:1985-03-01 00:00:00
abstract:OBJECTIVES:There is no licensed, dose-appropriate formulation of hydrocortisone for children with adrenal insufficiency (AI) and patients rely on compounded adult medication. The aim of this study was to evaluate the absorption, palatability and safety of Infacort® , an immediate-release, granule formulation of hydroco...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13447
更新日期:2018-01-01 00:00:00
abstract:OBJECTIVE:To analyse the clinical and biochemical effects of metyrapone in the treatment of Cushing's syndrome. DESIGN:An evaluation of the standard clinical practice at one institution. PATIENTS:Ninety-one patients with Cushing's syndrome: 57 pituitary-dependent Cushing's disease, 10 adrenocortical adenomas, six adr...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1991.tb03517.x
更新日期:1991-08-01 00:00:00
abstract:OBJECTIVE:Although abnormalities of the humoral immune system, such as increased immunoglobulin production, are known in sarcoidosis, the relationship between sarcoidosis and autoimmune disorders in uncertain. We studied the incidence of thyroid autoantibodies and the prevalence of Hashimoto's thyroiditis in patients w...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.1630976.x
更新日期:1997-04-01 00:00:00
abstract:OBJECTIVE:Women with impaired glucose tolerance (IGT) and type 2 diabetes (T2D) are more at risk of cardiovascular disease. The aim of this study was to test the hypothesis that increased visceral adipose tissue (VAT) could explain to a large extent alterations in the cardiovascular disease risk profile of postmenopaus...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03933.x
更新日期:2011-03-01 00:00:00
abstract::Thyroid antibodies were demonstrated in 57% of thirty pernicious anaemia patients without overt thyroid disease. Elevated basal thyroid stimulating hormone (TSH) levels and an enhaced TSH response to thyrotrophin releasing hormone (TRH) only occurred in thyroid antibody positive subjects; by contrast the thyroid antib...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1977.tb02005.x
更新日期:1977-02-01 00:00:00