Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a 26-year-old woman with a 19 cm malignant hepatic neoplasm with morphological features that closely resembled a follicular thyroid carcinoma. Despite this, it was interpreted as a cholangiocarcinoma due to the absence of a primary thyroid tumor and the lack of thyroglobulin and TTF-1 immunoreactivity by the hepatic tumor. The left hepatic lobectomy specimen showed an encapsulated and multinodular gray-white mass with cystic and hemorrhagic areas. Microscopically, it displayed predominant macro and microfolicullar patterns with focal solid, trabecular and insular areas. The small and distended follicles contained a colloid-like secretion and were lined by low cuboidal cells with scant cytoplasm, round or oval hyperchromatic nuclei with fine chromatin. The solid areas, trabecular and insular structures were similar to those of follicular or papillary thyroid carcinomas. In addition, some of the neoplastic cells had clear nuclei with occasional grooves. The tumor was positive for cytokeratin (CK) 7, CK 19 and CD138, and negative for TTF-1, thyroglobulin, Hepar-1, Glypican-3, alpha-fetoprotein and neuroendocrine markers. A thyroid neoplasm was excluded clinically and by ultrasound and computed tomography. Although, the residual hepatic parenchyma was initially not cirrhotic, the patient eventually developed cryptogenic cirrhosis. The patient received adjuvant chemotherapy and died of metastatic disease 18 months after surgery. The thyroid-like pattern broadens the morphologic spectrum of cholangiocarcinoma.
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PMID:Thyroid-like cholangiocarcinoma of the liver: an unusual morphologic variant with follicular, trabecular and insular patterns. 2310 64

Metastatic carcinomas involving the lung are a common specimen encountered in surgical pathology. These metastases may have different morphologic, and architectural patterns and may mimic primary pulmonary adenocarcinoma, especially the intra-alveolar (lepidic) pattern of spread which may simulate a primary pulmonary bronchioloalveolar carcinoma (adenocarcinoma in situ). We present the case of a metastatic pancreatic adenocarcinoma that morphologically mimicked bronchioloalveolar carcinoma of the lung in that the tumor had an exclusive intra-alveolar pattern of spread and had an immunophenotype that was noninformative as to the site of origin (cytokeratin 7+, cytokeratin 20-, TTF-1-). In this case, we used KRAS gene mutation analysis to support that the lung carcinoma represented a metastatic pancreatic carcinoma as they both possessed identical codon 12 KRAS mutations. We show that this method may be a useful way to prove site of origin of metastatic carcinoma-particularly if standard morphologic or immunohistochemical analysis is not definitive.
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PMID:The Role of KRAS Mutational Analysis to Determine the Site of Origin of Metastatic Carcinoma to the Lung: A Case Report. 2311 10

The presence of ectopic thyroid tissue is a frequent diagnostic feedback related to a possible histogenetic abnormality or a result of post-surgical seeding. The important challenge is the diagnostic definition of its nature, which could lead to a different therapeutic approach. We describe a case with all the possible implications and differential diagnoses supported by the application of immunohistochemistry and BRAF-V600E molecular detection. A 36-year-old girl with a left thyroid nodule underwent surgery with a diagnosis of angio-invasive tall cell variant of papillary carcinoma without lymph-node metastases. The patient history revealed a previous right lobectomy in another institution ten years before. The right neck dissection was histologically characterized by the presence of thymic residual and evidence of microfollicular microfoci (less than 1mm) of thyroid tissue. Thyroid tumor cells were positive for thyroglobulin, TTF-1, HBME-1 and Galectin-3, while the residual ectopic thyroid tissue showed positivity only for TTF-1 and thyroglobulin. The molecular tests on the thyroid nodule revealed the presence of BRAF-V600E mutation, but wild type BRAF in the ectopic tissue. The histo-morphological definition of these remnants plays the most important role, but the application of immunohistochemistry and molecular biology may help to reach a conclusive diagnosis.
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PMID:Detection of ectopic thyroid remnants: a serious diagnostic dilemma. When molecular biology and immunohistochemistry can solve the problem. 2320 Jul 90

Cribriform adenocarcinoma of the tongue and minor salivary glands (CATMSG) is a tumor occurring mostly, but not exclusively, in the base of the tongue. Other locations are minor salivary glands of the oral cavity. Histopathologically, CATMSG resembles papillary carcinoma of the thyroid gland. It usually reveals a solid growth devoid of colloid, and eosinophilic material present in follicular areas is rather pale in contrast to metastatic foci seen in papillary thyroid carcinoma that shows typical deeply eosinophilic colloid with "moth-eaten peripheries" and cystic configuration. In addition, giant multinucleated cells are not observed in CATMSG and psammoma bodies are found only exceptionally. Unlike papillary thyroid carcinoma, CATMSG is composed of hybrid secretory-myoepithelial cells. Most importantly, CATMSG is consistently negative with both thyroglobulin and TTF-1. CATMSG is a distinct tumor entity that also differs from polymorphous low-grade adenocarcinoma by location, cytology, histological architecture, and behavior, with frequent metastases at the time of presentation. Paradoxically, early metastatic disease seen in most cases of CATMSG is associated with an indolent behavior. It makes CATMSG a unique neoplasm among all low-grade salivary gland tumors.
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PMID:Cribriform adenocarcinoma of the tongue and minor salivary glands: a review. 2382 Dec 9

The thyroid gland is an uncommon site for metastasis to develop and thus metastases arising from breast cancer are rarely observed. In the present study, we describe a case of a 45-year-old female with a three-year history of breast cancer who presented with a thyroid mass that was diagnosed as metastatic breast carcinoma by histopathological analysis of the subtotal thyroidectomy specimen. To ascertain the diagnosis of metastatic breast cancer, we evaluated two types of markers; those that possessed a similar expression status in the original and metastatic lesions [ER, PR and CerbB-2 (HER2/neu)], and those that are capable of differentiating between metastatic lesions and the surrounding thyroid components (TG and TTF-1). The results showed that ER, PR and CerbB-2 demonstrated a similar expression pattern in primary breast carcinoma and thyroid lesions. Meanwhile, in the thyroid lesions, the malignant cells showed negative staining for TG and TTF-1, which confirmed that lesions were not thyroid in origin. This case may prompt clinicians that although thyroid gland are uncommon metastatic site, a diagnosis of metastatic disease should be considered when new aggregates are identified in the thyroid glands and histopathological analysis may aid the diagnosis.
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PMID:Thyroid gland metastasis arising from breast cancer: A case report. 2383 51

Lung metastases from primary pancreatic adenocarcinomas often have mucinous features, which makes them difficult to distinguish from the primary lung adenocarcinoma. We explored the potential utility of KRAS mutational status and immunohistochemical studies in the evaluation of adenocarcinomas in the lungs of patients with known pancreatic cancer. Metastatic pancreatic cancer cases had fewer solitary lung lesions (5 (15%) versus 37 (95%) for lung primaries; P=0.0001), more tumors with pure (100%) mucinous morphology (16 (50%) versus 9 (23%) for lung primaries; P=0.0037), and more frequent KRAS mutations (24 (75%) versus 18 (46%) for lung primaries; P=0.0093). Presence of the KRAS G12C mutation had 96% specificity and positive predictive value for lung adenocarcinoma, whereas G12R was 99% specific for pancreatic cancer with a positive predictive value of 86%. Of the 18 KRAS mutated mucinous lung tumors, only 3 (16%) occurred in nonsmokers. Conversely, of the 19 KRAS mutated pancreatic cancer metastases, 11 (58%) occurred in nonsmokers. The median overall survival was significantly shorter for patients with metastatic tumors when compared with patients with primary mucinous tumors (19 months, 95% confidence interval, 10-28 months versus 55 months, 95% confidence interval, 39-70 months, P=0.005). CK20 and CDX2 positivity supported metastatic pancreatic cancer, whereas TTF-1 positivity supported primary lung adenocarcinoma. In summary, KRAS G12C mutations, TTF-1, and napsin A were associated with primary lung adenocarcinoma, whereas KRAS G12R mutations, CK20, and CDX2 favored pancreatic adenocarcinoma. We showed survival differences for patients whose pancreatic metastases were synchronous versus metachronous to their primary tumors, and for patients with mucinous pancreatic cancer metastases versus primary mucinous lung adenocarcinomas. Differences in KRAS mutations reflect differences in exposure to tobacco smoking and highlight biological differences between two KRAS oncogene-driven cancers.
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PMID:KRAS mutational analysis and immunohistochemical studies can help distinguish pancreatic metastases from primary lung adenocarcinomas. 2388 94

Activating mutations of the epidermal growth factor receptor (EGFR) in lung tumors are associated with a dramatic response to tyrosine kinase inhibitors. Therefore, routine analysis of pathological specimens is mandatory in clinical practice. We have prospectively tested tumors from Caucasian lung tumor patients between January 2010 and June 2012. DNA was extracted from formalin-fixed paraffin-embedded tissues following macrodissection. The p.L858R substitution was assessed by allele-specific PCR and exon 19 deletions by PCR and DNA fragment analysis. Using a robust process from patient sampling to screening methods, we analyzed samples from 1,403 patients. The EGFR status could be successfully determined for 1,322 patients. EGFR mutations were detected in 179 (13.5%) patients, with female and adenocarcinoma histology predominance. Mutated patients were significantly older than non-mutated patients. Similar mutation rates were obtained with primary tumors and metastases, and with surgical resection, bronchial biopsies, CT-guided needle biopsies and transbronchial needle aspiration. The sensitivity of our assays allowed us to detect EGFR mutations in samples poor (<10%) in tumor cells. Finally, the mutation rate was much higher in tumors expressing the TTF-1 antigen (145/820; 17.7%) than in TTF-1 negative tumors (3/218; 1.4%). The results obtained through routine analysis of more than 1,300 samples indicated that all types of specimen can be analyzed without any significant bias. TTF-1 immunostaining may be used to predict negative EGFR mutation status.
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PMID:Detection of EGFR gene mutations in non-small cell lung cancer: lessons from a single-institution routine analysis of 1,403 tumor samples. 2393 3

Background. Thyroid metastases are rare. Clinically, they represent less than 4% of thyroid malignancy in clinical studies. Aim. To assess various presentations and therapy for patients with lung cancer metastatic in the thyroid. Materials and Methods. We report a case of metastatic adenocarcinoma of the lung to the thyroid. We reviewed similar reports through PubmMed search from 1997 until 2013. Case Presentation. A 48-year-old lady was seen in the clinic for an adenocarcinoma of left upper lobe (LUL) of the lung; she received neoadjuvant chemotherapy then LUL lobectomy. After 9 months she presented with diffuse goiter initially believed to be a solitary metastatic lesion as it was positive for adenocarcinoma of lung origin on histopathological exam with TTF-1 positivity. Unfortunately, PET scan showed additional mediastinal lymphadenopathy. Conclusion. The treatment strategy for metastatic thyroid disease is based on a multidisciplinary approach, where thyroidectomy would have been considered in case of a solitary metastatic involvement, but further metastatic workup is mandated to direct further systemic therapy versus palliative radiation therapy.
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PMID:Thyroid metastasis from nonsmall cell lung cancer. 2445 57

The eye and periorbital soft tissue are derived from the neuroectodermal neural crest, leading to a wide range of tumor types that arise at this site. The uveal tract (iris, ciliary body, and choroid) normally contains melanocytes, and thus both benign nevi and malignant melanoma can arise there, the choroid being the most frequent site. Uveal melanoma (UM) in adults and retinoblastoma (in young children) are the 2 most common primary intraocular malignancies. Retinoblastoma is the most common eye cancer worldwide, but the most common ocular cancer in the United States and Europe is UM. This review will focus on UM and will include the epidemiology, pathologic findings, prognosis and treatment, and review of ongoing molecular discoveries aimed at elucidating the pathways that could lead to adjuvant therapy. These tumors are not uncommon to dedicated ocular pathologists and may occasionally be encountered by general pathologists as well. First, a short word about metastases to the uveal tract is in order, because of its importance in the differential diagnosis. Although the most common primary malignancy in the adult eye is UM, the most frequent adult intraocular malignancy identified in autopsy studies is metastatic carcinoma to the uveal tract. Metastases usually occur late, and the eye is thus rarely enucleated in this setting. However it is important to be aware of this as sometimes, the ophthalmologist cannot determine clinically if an amelanotic tumor represents melanoma or metastasis, possibly from an unknown primary. Shields and colleagues reported on their experience and found that the most common primary sites for uveal metastasis are breast, followed by lung, and then the gastrointestinal tract. Immunohistochemical stains for cytokeratin or more specific markers such as CK7, CK20, TTF-1, BRST-2, CDX2, and PSA may be helpful if there is no known primary. Metastases to the eye also occur in the orbit, eyelid, and rarely to the retina.
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PMID:Uveal melanoma: A pathologist's perspective and review of translational developments. 2450 96

Pancreatic tumors are mostly primary tumors, with only rare metastatic tumors described in the literature. Here we report an unusual case of fine-needle aspiration (FNA) diagnosis of high grade adenoid cystic carcinoma of the parotid gland metastatic to the pancreas. The aspirate smears were moderately cellular and revealed numerous basaloid neoplastic cells. The cytomorphologic differential diagnosis included primary pancreatic tumor with small cell morphology as well as metastatic tumors. By immunocytochemistry, the tumor cells were positive for cytokeratins (AE1/AE3, CAM5.2, and CK7), and CD117 (C-KIT), and negative for CD45, WT1, synaptophysin, chromogranin, CD56, TTF-1, and CK20. The cytomorphologic features and immunoprofile in our case were consistent with high-grade carcinoma metastases from patient's known salivary gland primary. To the best of our knowledge, this case is the first reported encounter of FNA diagnosis of pancreatic metastasis with small cell morphology from a salivary gland neoplasm as primary site.
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PMID:Fine-needle aspiration diagnosis of high grade adenoid cystic carcinoma metastatic to the pancreas. 2455 89


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