Abstract:
:The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. We report the clinical history and the laboratory, imaging, and histopathological findings of a 47-year-old man affected by multinodular goiter. BRAF(V600E)-mutated DNA was quantified in plasma samples and in cancer sections by quantitative real-time polymerase chain reaction (qPCR). At ultrasound examination, the dominant right nodule of the thyroid was weakly hyperechoic and hypervascularized, while the left one was hypoechoic without internal vascularization. Regional lymphadenomegalia was not detected. Basal plasma calcitonin was elevated, and the patient underwent total thyroidectomy and resection of central cervical lymph nodes. Histopathological examination identified two distinct foci of MTC and PTC and micrometastasis of well-differentiated carcinoma in one of the six resected lymph nodes. RET proto-oncogene germline mutations were not detected. Cutaneous melanoma of the thorax was subsequently diagnosed. BRAF(V600E) tissue DNA was detected in PTC and melanoma but not in MTC. The cell-free plasma percentage of BRAF(V600E) DNA was detected in pre-thyroidectomy peripheral blood and was drastically reduced after cancer treatments. This study confirms the occurrence of synchronous MTC and PTC and is the first evidence of the co-existence of melanoma and distinct thyroid cancers of different origin. BRAF(V600E) allele was detected in PTC and melanoma but not in MTC tissues. BRAF(V600E) molecular quantification in pre- and post-treatment blood supports our previous data, suggesting its possible role in diagnosis and follow-up of BRAF-positive tumors.
journal_name
Endocr Patholjournal_title
Endocrine pathologyauthors
Fibbi B,Pinzani P,Salvianti F,Rossi M,Petrone L,De Feo ML,Panconesi R,Vezzosi V,Bianchi S,Simontacchi G,Mangoni M,Pertici M,Forti G,Pupilli Cdoi
10.1007/s12022-014-9303-1subject
Has Abstractpub_date
2014-09-01 00:00:00pages
324-31issue
3eissn
1046-3976issn
1559-0097journal_volume
25pub_type
杂志文章,评审abstract::Crohn's disease is one of the causes of secondary amyloidosis, which can lead to amyloid infiltration of the thyroid gland. It is essential to follow strict controls to prevent the appearance of a large amyloid goiter. Two patients with amyloid goiter secondary to Crohn's disease, with a large adipose tissue component...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-012-9220-0
更新日期:2012-12-01 00:00:00
abstract::Congenital hyperinsulinism is clinically characterized by an inappropriate insulin secretion resulting in recurrent severe hypoglycemia. Nesidioblastosis, the proliferation of islets cells budding off from pancreatic ducts, has been considered for years as the histological lesion responsible for the syndrome. In our m...
journal_title:Endocrine pathology
pub_type: 杂志文章,评审
doi:10.1385/ep:15:3:241
更新日期:2004-10-01 00:00:00
abstract::The relationship between chronic lymphocytic thyroiditis (CLT) and papillary thyroid carcinoma (PTC) is a subject of controversy. Some investigators suggest a causal relationship, whereas others regard the two as only a coincidental occurrence. An additional complicating factor is the presence of atypical nuclei frequ...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1385/ep:13:4:321
更新日期:2002-01-01 00:00:00
abstract::Pleomorphic leiomyosarcoma (PLMS) of the adrenal gland is a rare tumor in an unusual location. A primary PLMS of the left adrenal gland is reported in a 59-yr-old Mexican woman who presented progressive flank pain and weight loss. The tumor measured 16 cm in diameter, showed markedly pleomorphic and osteoclast-like gi...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1385/ep:16:1:075
更新日期:2005-04-01 00:00:00
abstract::A 59-yr old female presented with Cushing's syndrome due to ectopic ACTH production. At the time of initial diagnosis an obvious source for the Cushing's syndrome was not found and the patient was treated with bilateral adrenalectomy. Three years later she presented with hyperpigmentation and evidence of ACTH overprod...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1385/ep:16:2:145
更新日期:2005-07-01 00:00:00
abstract::There is evidence that programmed death-ligand 1 (PD-L1) is expressed by thyroid follicular epithelium in thyroiditis, but the role of PD-L1 in papillary thyroid carcinoma (PTC) is poorly understood. We aimed to determine whether (1) the presence of background chronic lymphocytic thyroiditis (CLT) or Hashimoto thyroid...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-018-9540-9
更新日期:2018-12-01 00:00:00
abstract::The pituitary contains estrogen receptor (ER), progesterone receptor (PR), and androgen receptor (AR). In accordance with immunocytochemistry, it is agreed that sex hormone receptors reside into the nucleus. All three receptors are found predominantly in gonadotrophs and lactotrophs, and less frequently in other cell ...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/BF02739938
更新日期:1997-07-01 00:00:00
abstract::Neuroendocrine secretory protein-55 (NESP-55) is a recently described member of the chromogranin family and appears to be a marker of the constitutive secretory pathway in certain neural, neuroendocrine, and endocrine cell types. It has been shown to be selectively expressed in tumors differentiating towards the adren...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-011-9162-y
更新日期:2011-09-01 00:00:00
abstract::Insulin-like growth factor II mRNA-binding protein 3 (IMP3) is an oncofetal protein highly expressed in fetal tissue and malignant tumors but rarely found in adult benign tissues. In various tumors, IMP3 expression is correlated with increased tumor aggressiveness and reduced overall survival. To our knowledge, IMP3 e...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-009-9096-9
更新日期:2010-03-01 00:00:00
abstract::Solitary fibrous tumor was initially thought to be a pleura-based tumor. However, over the last two decades, its involvement in a variety of extrapleural sites gained recognition. Nonetheless, a primary involvement of the endocrine organs is rare, and in this report, we detail an instance where the tumor affected the ...
journal_title:Endocrine pathology
pub_type: 杂志文章,评审
doi:10.1007/s12022-010-9113-z
更新日期:2010-06-01 00:00:00
abstract::Tumor-to-tumor metastasis in thyroid neoplasms is exceedingly uncommon. Two unusual cases of breast carcinoma and renal cell carcinoma metastatic to follicular variant papillary carcinoma are reported. On histologic sections, the donor tumor cells infiltrated the substance of the recipient tumor and the angiolymphatic...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-009-9087-x
更新日期:2009-01-01 00:00:00
abstract::Solitary metastasis from prostate adenocarcinoma to thyroid gland is very rare and usually associated with other distal metastasis. This report describes for the first time isolated multiple bilateral thyroid metastasis from prostatic adenocarcinoma. A 67-year-old man who is known as a case of prostatic adenocarcinoma...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-013-9232-4
更新日期:2013-03-01 00:00:00
abstract::The diagnosis of pituitary corticotroph adenoma relies on the demonstration of a loss of the normal feedback control of adrenocorticotropic hormone (ACTH) biosynthesis by cortisol. The marked variability in the degree of ACTH suppression by glucocorticoids in these tumors, however, greatly enhances the difficulty in d...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/BF02915332
更新日期:1991-06-01 00:00:00
abstract::Folliculostellate (FS) cells are present in the anterior pituitary and have important regulatory functions including controlling hormone release from other anterior pituitary cells. FS cells do not usually express neuroendocrine genes such as chromogranin A (CgA). We analyzed transcriptional regulation and gene expres...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1385/ep:16:3:173
更新日期:2005-10-01 00:00:00
abstract::Thirteen cases of fatal sporadic medullary carcinoma of the thyroid (MCT) that killed the patient within 1 year after diagnosis were compared with 12 nonfatal MCTs with excellent prognosis. Males predominated in fatal cases whereas the reverse was true in MCTs with good prognosis. The two groups of tumors showed gener...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/BF02914490
更新日期:1993-03-01 00:00:00
abstract::Activating mutations of the receptor tyrosine kinase, ret, are associated with multiple endocrine neoplasia type 2A (MEN 2A). However, the mechanisms leading to tumor development are unclear. Glial-derived neurotrophic factor (GDNF) activates wild-type ret via interaction with a second receptor, GFR a-l. We have utili...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/BF02739692
更新日期:1998-01-01 00:00:00
abstract::Aldosterone-producing adenoma (APA) consisting of pure zona glomerulosa (ZG)-type cells is extremely rare, and primary aldosteronism complicated by pregnancy is also rare. We report a case of APA discovered in a 32-year-old pregnant woman who visited our hospital for hypertension and hypokalemia at 26 weeks gestation....
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-009-9060-8
更新日期:2009-04-01 00:00:00
abstract::Immunohistochemical staining for parathyroid hormone-related protein (PTHrp) was investigated on cryosections of 17 normal-sized human parathyroid glands, 47 adenomatous and hyperplastic glands of hypercalcemic patients with primary or uremic hyperparathyroidism, and 5 metastases of parathyroid carcinoma. Utilizing a ...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/BF02915391
更新日期:1990-09-01 00:00:00
abstract::This study compared the expression profile of HBME-1 and claudin-1 in 90 papillary thyroid carcinomas (PTCs) with respect to the tumor architecture and invasive growth as reflected in 46 BRAF-like, 31 non-invasive RAS, and 13 invasive RAS-like phenotypes. Individual tumors were given an expression score (max 300) by m...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-016-9433-8
更新日期:2016-09-01 00:00:00
abstract::Nodular corticotrope hyperplasia is a rare pathology causing Cushing's syndrome owing to a primary pituitary disease or ectopic CRH production. In this study, we evaluated the laboratory and pathological findings and results of transsphenoidal pituitary surgery in four patients with Cushing's disease. Dynamic tests of...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/BF02914989
更新日期:1995-04-01 00:00:00
abstract::Papillary carcinomas (PCs) of thyroid are among the most common but least aggressive human malignancies. The factors explaining the indolence of these tumors are unknown but host-tumor immune interactions may play a role. This study was designed to determine if there is morphologic evidence of these. Frozen tissues co...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/BF02739883
更新日期:1995-10-01 00:00:00
abstract::Activating mutations of GNAq protein in a hotspot at codon 209 have been recently described in uveal melanomas. Since these neoplasms share with thyroid carcinomas a high frequency of MAP kinase pathway-activating mutations, we hypothesized whether GNAq mutations could also play a role in the development of thyroid ca...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-010-9129-4
更新日期:2010-12-01 00:00:00
abstract::Transcription factors play specific roles in the development and differentiation of normal pituitary tissues and pituitary adenoma. The transcription factor, muscle segment homeobox 1 (MSX1), which belongs to the homeobox gene family, binds the promoter region of the glycoprotein hormone alpha-subunit (SU) in TSH-prod...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-008-9021-7
更新日期:2008-04-01 00:00:00
abstract::The recent increase in the detection of papillary thyroid carcinoma (PTC) has been influenced by the finding of incidental tumours. To this group, carcinomas measuring less than 1 cm (the so-called microcarcinomas) as well as those above 1 cm belong. Analyzing a case series from our own experience, this paper focuses ...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-014-9323-x
更新日期:2014-09-01 00:00:00
abstract::Neuroendocrine pancreatic tumors (PanNETs) are graded on the basis of their proliferative activity. Cytological samples are commonly the only samples available, but the determination of Ki-67 in cytology and its reliability as a measure of tumor mitotic activity is not well settled. We have retrospectively reviewed al...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-016-9455-2
更新日期:2016-12-01 00:00:00
abstract::Hyalinizing trabecular tumor (HTT) is a rare thyroid tumor of follicular cell origin with a trabecular pattern of growth and marked intratrabecular hyalinization. This tumor is known to share morphological and architectural similarities with paraganglioma and medullary thyroid carcinoma, as well as the nuclear feature...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-007-9002-2
更新日期:2008-04-01 00:00:00
abstract::Nonradioisotopic electron microscopic (EM) in situ hybridization (ISH) (EM-SH) with biotinylated oligonucleotide probes is utilized for the ultrastructural visualization of pituitary hormone mRNA in rat pituitary cells. EMISH is an important tool for clarifying the intracellular localization of mRNA and the exact site...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/BF02738881
更新日期:1999-10-01 00:00:00
abstract::The presence, distribution, and morphological appearance of S-100 protein-immunoreactive cells in the human hypophysis were studied by immunocytochemistry. One hundred and twelve nonadenomatous pituitaries from fetuses to adults and pituitaries affected by several lesions including metastases, acute infarcts, and lymp...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/BF02921341
更新日期:1992-03-01 00:00:00
abstract::C cell hyperplasia is considered a precursor lesion for hereditary forms of medullary thyroid carcinoma. It has therefore been suggested as a morphological marker to distinguish hereditary from sporadic medullary thyroid carcinoma and to triage genetic testing in resource poor settings. However, numerous definitions f...
journal_title:Endocrine pathology
pub_type: 杂志文章
doi:10.1007/s12022-019-9567-6
更新日期:2019-06-01 00:00:00
abstract::Granular cell tumours of the thyroid gland are rare, with only six previously reported cases in the English literature. Current histological, immunohistochemical and electron microscopic evidence favours a neural/Schwannian relationship. A case of a granular cell tumour of the thyroid gland in a healthy 36-year-old wo...
journal_title:Endocrine pathology
pub_type: 杂志文章,评审
doi:10.1007/s12022-011-9146-y
更新日期:2011-03-01 00:00:00