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- W4385655475 abstract "Topic: 18. Indolent and mantle-cell non-Hodgkin lymphoma - Clinical Background: Erdheim-Chester disease (ECD) is a rare clonal proliferation of non-Langerhans cell histiocytes, commonly having a foamy (lipid-laden) cytoplasm & associated with MAPK pathway mutations, frequently BRAF V600E. Aims: This report highlights challenges in diagnosis of rare disease & the role of clinicopathological correlation & molecular diagnosti Methods: This is a report of rare case of ECD with extremely challenging diagnosis, in spite of the extensive work-up including multiple tissue biopsies from different sites. The diagnosis was significantly delayed for > 10 months & unfortunately the patient succumbed due to delayed management & severe MRSA skin infection. This is a 60-year-old male patient, presented with diffuse abdominal pain, unintended weight loss and progressive erythematous skin macules & ecchymotic patches over the shoulders, lower abdomen & the scalp. Results: CBC showed severe anemia with elevated bilirubin & renal function tests. PET CT scan showed sclerotic foci in pelvic & long bones with hypermetabolic bone marrow (BM) & infiltration of peri-nephric fat. Multiple skin, retroperitoneal, duodenal & BM biopsies revealed fibrohistiocytic infiltrate suggestive of an inflammatory process. A repeat BM aspirate showed infiltration by abnormal histiocytes, composed of multinucleated giant forms (with dispersed nuclear chromatin and inconspicuous nucleoli), forms with abundant bluish-black cytoplasm & dense hemosiderin deposition, &/or prominent emperipolesis & small forms exhibiting active hemophagocytosis. The BM biopsy revealed fibroinflammatory foci with areas of collagenization & dense infiltration by abnormal histiocytes; mostly large cells with abundant cytoplasm, inconspicuous nucleoli & some multinucleated forms. The abnormal histiocytes were positive for CD68, CD163, factor XIIIa, PU.1, S-100 (partial), cyclin D1 and negative for Langerin, CD1a & ALK. Molecular analysis revealed BRAF600E concluding ECD diagnosis. Summary/Conclusion: Our case had non-specific findings including lack of foamy macrophages, the presence of emperipolesis (Rosi-Dorfman like cells), hemophagocytosis & hemosiderin deposition. When interpreted with the clinical findings, the detection of BRAFV660E mutation had the decisive role in making the diagnosis. Also, the latter clinical course was more in keeping with macrophage activation syndrome than typical ECD. The unfortunate outcome could be delayed with targeted therapy against the actionable mutationKeywords: Histiocytosis" @default.
- W4385655475 created "2023-08-09" @default.
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- W4385655475 date "2023-08-01" @default.
- W4385655475 modified "2023-09-27" @default.
- W4385655475 title "PB2280: MULTISYSTEM ERDHEIM CHESTER NEOPLASM WITH BRAFV660E MUTATION, PROMINENT EMPERIPOLESIS, HEMOPHAGOCYTOSIS AND FULMINANT COURSE" @default.
- W4385655475 doi "https://doi.org/10.1097/01.hs9.0000975852.20317.08" @default.
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