Cases reported "Thyroid Neoplasms"

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1/338. A Val 677 activating mutation of the thyrotropin receptor in a Hurthle cell thyroid carcinoma associated with thyrotoxicosis.

    Thyroid nodules presenting as hot at 131I-scintigraphy are usually benign follicular adenomas. We report a 42-year-old female patient with an autonomously functioning Hurthle cell thyroid carcinoma causing thyrotoxicosis. Genetic analysis of her thyroid tumoral dna revealed a heterozygotic activating mutation of the thyrotropin receptor (TSHR) gene that was located downstream to all of the other genetic alterations currently identified, and is due to a base substitution at codon 677 (normal cytosine replaced by guanine, CTG for GTG causing leucine substitution by valine in the seventh transmembrane domain of the receptor). This mutation was detected in the tumor, but not in the leucocytes from the same patient. The Val 677-TSHR mutant showed constitutive activity, in terms of cyclic adenosine monophosphate (cAMP) production, when permanently transfected in Chinese hamster ovary (CHO) cells. Gsp and ras oncogenes and the p53 tumor suppressor gene were not present in the Hurthle cell cancer. The TSHR mutation in this Hurthle cell carcinoma may be responsible for maintaining differentiated thyroid function and hyperthyroidism.
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ranking = 1
keywords = adenoma
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2/338. Appearance of anti TSH-receptor antibodies and clinical Graves' disease after radioiodine therapy for hyperfunctioning thyroid adenoma.

    Radioiodine treatment use is frequent in patients with benign hyperfunctioning thyroid diseases and the side-effects are rare. In this paper we described the appearance of TSH-receptor antibodies and the concomitant development of persistent hyperthyroidism in a patient with hyperfunctioning thyroid adenoma after 131I treatment. A 70-year-old man presented a hyperfunctioning thyroid adenoma with suppressed uptake in the adjacent normal gland. antibodies against the thyroglobulin (TgAb), thyroid peroxidase (TPOAb) and TSH-receptor (TRAb) were absent. One year after remission by radioiodine therapy the patient developed severe and persistent hyperthyroidism associated with diffuse 131I uptake in the gland. TgAb and TPOAb remained absent, but TRAb were present. Although spontaneous development of Graves' disease cannot be excluded, the time sequence and the negative familial and personal history for autoimmune diseases suggest a possible connection between the two phenomena. The release of TSH-receptor antigen from follicular cells damaged by 131I may have triggered the autoimmune response turning a toxic nodular goiter patient into a Graves' disease patient.
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ranking = 6
keywords = adenoma
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3/338. Cribriform-morular variant of papillary carcinoma: a distinctive variant representing the sporadic counterpart of familial adenomatous polyposis-associated thyroid carcinoma?

    We describe herein four cases of an unusual sporadic thyroid tumor that shares the morphologic features of a distinctive follicular cell neoplasm previously proposed as a feasible indicator of familial adenomatous polyposis. We also review five other similar cases reported in the literature. All of the nine patients were young women, aged 16 to 30 years. Grossly, the neoplasms measured 1.5 to 5.6 cm; they were solid and solitary, except one case, which showed two tumor nodules, one in each lobe. Histologically, the lesions were encapsulated, and they exhibited an intricate blending of cribriform, follicular, papillary, trabecular, and solid patterns of growth, with morular (squamoid) areas. Cribriform structures were prominent, being formed by anastomosing bars and arches of cells in the absence of intervening fibrovascular stroma. Follicular areas were usually devoid of colloid, and the papillae were lined by columnar cells. There were focal areas of trabecular arrangement reminiscent of hyalinizing trabecular adenoma. The tumor cells were cuboidal or tall, with frequent nuclear pseudostratification and abundant eosinophilic-to-oxyphilic cytoplasm. The nuclei were usually hyperchromatic, but nuclear grooves, pale or clear nuclei, and intranuclear cytoplasmic inclusions were variably present. Morules with peculiar nuclear clearing caused by biotin accumulation were scattered in the tumors. Vascular and/or capsular invasion were noted in all of the cases except one, and lymph node metastasis was found in two cases. Immunohistochemical stains showed reactivity for thyroglobulin, epithelial membrane antigen, cytokeratins (including 34betaE12), vimentin, estrogen and progesterone receptors, bcl-2, and Rb proteins. Follow-up in seven cases showed that all of the patients were alive with no evidence of disease at 1 to 13 years after diagnosis. Thus, the behavior of this variant seems to be similar to that of conventional papillary carcinoma Because of the distinctive histologic features, we propose naming this tumor the cribriform-morular variant of papillary carcinoma.
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ranking = 6
keywords = adenoma
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4/338. carcinoma of the thyroid gland, adenoma of the adrenal cortex and peptic ulcer: an unreported association.

    A 39-year-old man, operated on for duodenal ulcer, was found to have a papillary carcinoma of the thyroid, an aldosterone-producing adenoma of the adrenal cortex, and a recurrence of a peptic ulcer. The probable coincidental occurrence of these diseases in this patient is suggested. Nevertheless, careful investigation of the other endocrine glands in patients with endocrine tumors is recommended.
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ranking = 5
keywords = adenoma
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5/338. Signet ring cell adenoma of the thyroid with mucin predominance.

    A 22-year-old male presented with a 1-year history of a right anterior neck mass. He did not have gastrointestinal cancer. Laboratory examination revealed an elevated serum thyroglobulin level of 120 ng/mL. The neck lesion showed poor uptake on 99mTc scan, but enhanced uptake on 201T1 scan. The patient underwent a hemithyroidectomy; the cut surface of the 7 x 3.5 cm lesion was solid and tanned orange. Postoperatively the serum thyroglobulin level decreased to 26 ng/mL. microscopy of the tumor showed signet ring cells and microfollides, both of which were positive for mucicarmin and alcian blue. A small percentage of the follicles were positive for thyroglobulin and periodic acid-Schiff. Our literature search detected 18 patients with signet ring cell lesions positive for thyroglobulin, but none had characteristics similar to ours showing predominance of mucin and poor staining for thyroglobulin.
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ranking = 4
keywords = adenoma
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6/338. A peculiar factor viii-related antigen staining of an oxyphilic cell nodule within an intrathyroidal parathyroid adenoma.

    A case of intrathyroidal parathyroid adenoma, which was found in the lower portion of the right thyroid lobe, is presented. The nodule in this lesion was composed of oxyphilic cells. In order to verify a possible vascular invasion, immunohistochemical study with factor viii-related antigen/von willebrand factor, which is known to be synthesized by the endothelial cells and stored in weibel-palade bodies, and ulex europaeus lectin 1 were applied. It was interesting to find positivity for factor viii-related antigen and ulex europaeus lectin I strictly confined in the nodule of oxyphil cells, which are known to have large numbers of mitochondria. This led to investigating similar immunoreactions in different lesions of oxyphilic cells with several other markers. The possible cross-reaction between weibel-palade bodies and mitochondria deserves further detailed research.
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ranking = 5
keywords = adenoma
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7/338. Somatic mutation of the APC gene in thyroid carcinoma associated with familial adenomatous polyposis.

    We report the existence of both germline and somatic mutations of the APC gene in thyroid carcinomas from familial adenomatous polyposis (FAP) patients. One papillary thyroid carcinoma from a 210-year-old woman, with germline mutation of the APC gene (TCA to TGA at codon 1110), showed a somatic mutation of AAAAC deletion between codons 1060 and 1063. Another somatic mutation of CAG to TAG at codon 886 was also found in one of multiple thyroid carcinomas from a 26-year-old woman with attenuated FAP and germline mutation at codon 175 (C deletion). This is the first evidence that total absence of the normal function of the APC gene is involved in development of thyroid carcinomas in FAP.
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ranking = 5
keywords = adenoma
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8/338. Thyroid papillary carcinoma arising in ectopic thyroid tissue within a branchial cleft cyst.

    A case of papillary carcinoma arising in ectopic thyroid tissue within a branchial cleft cyst is described. A 46-year-old woman presented with a 2.0 x 2.0 cm mass in her left lateral neck. The excised mass showed a cystic lesion with a thyroid papillary carcinoma. Following a lateral cervical cystectomy, subsequent thyroid gland and lymph nodes dissections were performed. Pathological examination showed an adenomatous goiter and no primary carcinoma in the thyroid gland, as well as metastatic papillary carcinoma in the lymph nodes. Two cases of thyroid papillary carcinoma arising in ectopic thyroid tissue within a branchial cyst have been reported previously, but no lymph node metastases were recognized. The first case of papillary carcinoma arising in ectopic thyroid tissue within a branchial cleft cyst, and accompanied by lymph node metastasis is presented.
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ranking = 1
keywords = adenoma
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9/338. Involvement of the HMGI(Y) gene in a microfollicular adenoma of the thyroid.

    Follicular thyroid adenomas are epithelial tumors characterized by subgroups with specific chromosomal aberrations. Here we present a case with translocation t(1;6)(p35;p21). In 1p35 and 6p21, two genes of the high-mobility group of proteins are located. With P1-derived Artificial Chromosome (PACs) derived from the HMG17 gene located at 1p35 and HMGI(Y) located at 6p21, fluorescence in situ hybridization was performed. The breakpoints were located distal to HMG17 and proximal to HMGI(Y), but no rearrangement of the genes was shown by FISH. However, an overexpression of the HMGI(Y) gene was detected by RT-PCR as well as by immunohistochemistry techniques. This suggests a breakpoint in the proximity of the HMGI(Y) deregulating HMGI(Y) gene expression, a situation found in a variety of human benign mesenchymal tumors with involvement of chromosome band 6p21.
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ranking = 5
keywords = adenoma
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10/338. multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors.

    multiple endocrine neoplasia type 1 (MEN1) is characterized by the development of endocrine tumors of the parathyroid and pituitary glands, pancreas, and duodenum. Less frequently occurring tumors associated with MEN1 include non-endocrine tumors such as lipomas and angiofibromas. An increased incidence of thyroid neoplasms, leiomyomas, adrenal cortical hyperplasia, hepatic focal nodular hyperplasia, and renal angiomyolipoma has been noted in the MEN1 population. The pathogenesis of non-neuroendocrine tumors in MEN1 is unknown. We report a complex clinical course and a detailed morphologic and genetic analysis of a series of tumors that developed in a patient with MEN1. All tumors were microdissected and analyzed for loss of heterozygosity of the MEN1 gene. A germline mutation of the MEN1 gene was detected, and deletions of the MEN1 gene were consistently detected in multiple neuroendocrine tumors involving the parathyroid glands and the pancreas and a hepatic neuroendocrine tumor metastasis, as predicted by Knudson's "two hit" hypothesis. Two hits of the MEN1 gene were also detected in esophageal leiomyoma tissue, suggesting that tumorigenesis was directly related to the patient's underlying MEN1. In contrast, follicular thyroid adenoma, papillary thyroid carcinoma, hepatic focal nodular hyperplasia, and adrenal cortical hyperplasia consistently showed retained heterozygosity of the MEN1 gene with flanking markers and an intragenic marker. Therefore, these tumors appear to develop along pathogenetic pathways that are different from classical MEN1-associated tumors.
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ranking = 1
keywords = adenoma
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