Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0677930 (primary tumor)
 20,210 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Case-report of a plasma cell granuloma of the lung found in a girl aged 8 years 6 months. The lesion of the lung was first interpreted as a metastasis of a suspected primary tumor in the right calf. It was only later that plasmacell granuloma of the lung was diagnosed. Plasma cell granuloma of the lung often gives rise to confusion, a fact illustrated by the various names applied to it, e.g. pseudosarcoma, postinflammatory pseudotumor of the lung, histiocytoma, xanthoma, fibroxanthoma, xanthogranuloma. On histological examination, this tumor consists of proliferations mainly of plasmacells and reticulo-endothelial cells, with some polymorphism and some giant cells. The tumor appears as a single, sharply circumscribed mass, is usually asymptomatic and therefore found mostly on routine-chest-films. Rarely is it found as an obstructive mass in the bronchi or in the trachea. The histopathogenesis of the tumor is not known, the lesion benign. Treatment is resection.
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PMID:[Plasma cell granuloma of the lung (author's transl)]. 11 3

Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder characterized by lesions composed of pathological CD207(+) dendritic cells with an inflammatory infiltrate. BRAFV600E remains the only recurrent mutation reported in LCH. In order to evaluate the spectrum of somatic mutations in LCH, whole exome sequencing was performed on matched LCH and normal tissue samples obtained from 41 patients. Lesions from other histiocytic disorders, juvenile xanthogranuloma, Erdheim-Chester disease, and Rosai-Dorfman disease were also evaluated. All of the lesions from histiocytic disorders were characterized by an extremely low overall rate of somatic mutations. Notably, 33% (7/21) of LCH cases with wild-type BRAF and none (0/20) with BRAFV600E harbored somatic mutations in MAP2K1 (6 in-frame deletions and 1 missense mutation) that induced extracellular signal-regulated kinase (ERK) phosphorylation in vitro. Single cases of somatic mutations of the mitogen-activated protein kinase (MAPK) pathway genes ARAF and ERBB3 were also detected. The ability of MAPK pathway inhibitors to suppress MAPK kinase and ERK phosphorylation in cell culture and primary tumor models was dependent on the specific LCH mutation. The findings of this study support a model in which ERK activation is a universal end point in LCH arising from pathological activation of upstream signaling proteins.
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PMID:Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. 2537 60