Human pathology
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Case Reports
Severe enterocolitis associated with antiepileptic-induced drug reaction with eosinophilia and systemic symptoms.
Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare but serious drug-induced reaction with cutaneous, hematologic, and solid-organ injury. Antiepileptic drugs are one of the most common classes of drugs implicated in DRESS. ⋯ Although DRESS may involve many organs, severe involvement of the gastrointestinal tract in DRESS and/or in association with antiepileptic drugs has rarely been reported. We report detailed clinical and histopathologic findings of a fatal case of DRESS syndrome resulting from antiepileptic drug treatment that was accompanied by severe enterocolitis, malabsorption, and cachexia.
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Gene associated with retinoid and interferon-induced mortality 1 (GRIM-1) acts as a tumor growth suppressor via apoptosis induction. However, GRIM-1 expression in human non-small cell lung cancer (NSCLC) and its potential interaction with another apoptosis-associated protein-glucose-regulated protein 78 (GRP78)-are as yet unknown. Using 40 surgical specimens, we showed significantly lower expression of GRIM-1 in NSCLC at both protein and messenger RNA (mRNA) levels compared with that in normal tissues (P < .01 and P < .001, respectively). ⋯ In addition, there was no correlation between GRIM-1 expression and clinical characteristics, whereas GRP78 expression was significantly correlated with tumor-nodes-metastasis (TNM) stage (stage 3 + 4 versus stage 1 + 2). In conclusion, the expression of GRIM-1 and GRP78 was negatively correlated in human NSCLC tissues, and the down-regulation of GRP78 by GRIM-1 provides a possible mechanism for their interaction. This study suggests a novel potential molecular pathway inactivated during the development of NSCLC.
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Although a hyperplastic polyp (HP) shares morphological and molecular features with a sessile serrated adenoma/polyp (SSA/P), HPs and SSA/Ps are considered nonneoplastic and neoplastic epithelial polyps, respectively. Because HPs and SSA/Ps cover the morphological spectrum, we hypothesized that an intermediate serrated polyp (ISP) might exist between an HP and an SSA/P in terms of both morphological and molecular aspects. An ISP was defined as a serrated lesion that carries distorted crypts (columnar crypt dilation, irregularly branching crypts, or horizontally arranged basal crypts) in less than 3 consecutive crypts. ⋯ Proximally located microvesicular HPs and ISPs were higher in the number of methylated markers but lower in the frequency of BRAF mutation than distally located ones. However, SSA/Ps did not show any difference in the number of methylated markers and the frequency of BRAF mutation between proximally and distally located lesions. Our findings that serrated polyps, intermediate between HPs and SSA/Ps in terms of morphological features, display molecular alterations intermediate between those of HPs and SSA/Ps suggest the presence of ISPs between HPs and SSA/Ps.
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Patients with cholangiocarcinoma often present with locally advanced or metastatic disease. There is a need for effective therapeutic strategies for advanced stage cholangiocarcinoma. Recently, FGFR2 translocations have been identified as a potential target for tyrosine kinase inhibitor therapies. ⋯ This study also assessed 100 cholangiocarcinomas for ERBB2 amplification and ROS1 translocations. Of the cases tested, 3% and 1% were positive for ERBB2 amplification and ROS1 translocation, respectively. These results confirm that FGFR2, ERRB2, and ROS1 alterations are potential therapeutic targets for intrahepatic cholangiocarcinoma.
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We report a case of localized Langerhans cell histiocytosis characterized by clonal aggregation of Langerhans cells in the thymus and identified with molecular genetic study. A 43-year-old Japanese woman was found to have an anterior mediastinal mass by radiologic studies. Laparoscopy-assisted biopsy was subsequently performed. ⋯ These Langerhans cells were immunohistochemically positive for S-100, CD1a, and CD207/langerin. Using allele-specific polymerase chain reaction and immunohistochemistry with mutation-specific antibody VE1, the BRAF V600E mutation was identified in aggregated Langerhans cells. At the medical follow-up, the thymic tumor had spontaneously regressed; however, identification of oncogenic BRAF mutation supports the neoplastic nature of the current case.