Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Esophageal carcinoma with multiple differentiation is very rare. The author herein reports a case of esophageal carcinoma with triplicate differentiation (squamous cell carcinoma, small cell carcinoma, and adenocarcinoma). A 78-year-old man was admitted to our hospital because of dysphagia. An endoscopic examination revealed a polypoid tumor (3 x 4 x 3 cm) in the distal esophagus, and biopsy was obtained. The biopsy showed a tumor composed of moderately differentiated squamous cell carcinoma, small cell carcinoma, and adenocarcinoma. The proportions of them were 40% in squamous cell carcinoma component, 50% in small cell carcinoma component, and 10% in adenocarcinoma. There were gradual merges among them. Immunohistochemically, squamous cell carcinoma component was positive for cytokeratins and p53 protein. The Ki-67 labeling was 43%. The small cell carcinoma component was positive for cytokeratin, p53 protein, CD56, and KIT. The Ki-67 labeling was 95%. The adenocarcinoma component was positive for mucins, cytokeratin, p53 protein and CEA. The KI-67 labeling was 52%. The author speculates that this carcinoma arise from totipotent stem cell of the esophagus. The patient was treated by chemoradiation therapy, but died of systemic metastasis 13 months after the initial manifestation.
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PMID:Esophageal Carcinoma with Triplicate Differentiation into Squamous Cell Carcinoma, Small Cell Carcinoma and Adenocarcinoma: a Case Report. 2795 65

In the United States and other western countries, the vast majority of primary esophageal malignancies are adenocarcinomas arising in the lower esophagus within a background of Barrett's esophagus. The microscopic feature of esophageal adenocarcinoma varies, with the tubular or papillary adenocarcinoma of intestinal pattern being the most common, and other less common morphological patterns include adenosquamous, signet ring cell, mucinous, mucoepidermoid, and adenoid cystic carcinoma. This is a case report of esophageal adenocarcinoma with foamy histiocyte-like feature in a 71-year-old male with a history of smoking and Barrett's esophagus who presented with dysphagia and weight loss. The tumor cells showed an abundant foamy cytoplasm, low N/C ratio and irregular nuclear contour. They were arranged in single, trabecular and glandular patterns and deeply invaded adventitia. Lymphovascular invasion and perineural invasion were present. The foamy histiocyte like-tumor cells were negative for CD68, but strongly and diffusely positive for CK7. E-Cadherin was maintained in the tumor cells, and p53 immunostaining revealed a wild-type staining pattern. To the best of our knowledge, this is the first documented case of primary esophageal adenocarcinoma with foamy-histiocyte-like phenotype. The clinical course, diagnosis and prognosis of this entity are discussed.
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PMID:Foamy Histiocyte-like Esophageal Adenocarcinoma: Unusual Morphology and Diagnostic Pitfalls. 3027 31

Primary squamous cell carcinoma of thyroid (SCC-T) is an extremely rare, aggressive neoplasm with median survival of 9 months. Pure squamous morphology with absence of other cell types is required for diagnosis of SCC-T. Clinically, SCC-T behaves like anaplastic thyroid carcinoma (ATC) showing rapid growth, and extra thyroidal extension. We report a 91-year-old woman presenting with an enlarging thyroid mass and accompanying dysphagia and hoarseness. Fine needle aspiration revealed hypercellular specimen with large, pleomorphic, malignant cells. Intraoperative assessment revealed an inoperable tumor involving both thyroid lobes and extensively infiltrating surrounding soft tissues. A subtotal thyroidectomy was performed. Histology revealed squamous cell carcinoma replacing native thyroid tissue and infiltrating adjacent skeletal muscle. Lymphovascular and perineural invasion were present. Immunohistochemistry showed tumor cells positive for CK5-p40, Pax-8, TTF-1 and negative for thyroglobulin. P53 expression by IHC was high and Ki-67 proliferation index was > 90 %. (Next generation sequencing revealed a novel BRAF mutation (BRAF c.1799 T > A; 1801_1812del) along with TP53 and TERT mutations. PDL-1 immunohistochemistry showed positive expression in tumor cells (>80%), making patient also amenable to anti-PDL-1 immunotherapy. Patient was treated with BRAF inhibitor therapy with initial relief but eventually was put on hospice care due to increasing intolerance to therapy. This case represents a rare thyroid malignancy with a unique molecular signature consisting of a novel BRAF mutation [previously not described in SCC-T or ATC], associated with TERT-TP53 mutations. Further, importance of PDL-1 testing as a prognostic marker and as a guide to immunotherapy in refractory tumors is discussed.
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PMID:Primary squamous cell carcinoma of thyroid with a novel BRAF mutation and High PDL-1 expression: A case report with treatment implications and review of literature. 3285 62


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