Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06126 (CD1a)
 2,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a new case of isolated Langerhans cell histiocytosis (LCH) of the hypothalamus. A 53-year-old female patient presented with polydipsia, headache, anorexia, and fatigue. Neurological imaging revealed a mass projecting from the hypothalamus into the third ventricle. Gross total removal of the tumor was performed. Light microscopy showed LCH, and immunohistochemical studies revealed S-100 and CD1a immunoreactivity in the Langerhans cells. Although the most common CNS site for LCH is the hypothalamus, isolated hypothalamic LCH, confirmed by biopsy, is very rare. The residual mass appeared to remit spontaneously 3.5 years after surgery, with regrowth 3 years later.
Brain Tumor Pathol 2004
PMID:A case of isolated langerhans cell histiocytosis of the hypothalamus with remission and regrowth after surgery. 1570 Aug 40

Due to the rarity of skull Langerhans cell histiocytosis (LCH), correlations between abnormalities on magnetic resonance imaging (MRI) and pathological findings have not been fully evaluated. Only a few reports have as yet compared MRI of LCH infiltration and histological diagnostic features. A 22-year-old man with an unremarkable past medical history presented with headache followed by a nodular mass in the right parietal area. Gadolinium (Gd)-enhanced T1-weighted images showed a "mushroom-shaped" extension, extending from the subcutaneous to the intracranial space. The galeal tissue, the dura mater, and the cranium adjacent to the lesion showed enhancement on Gd-enhanced T1-weighted MRI. Histologically, diagnosis was LCH, with immunohistochemical positivity for S-100, CD68, and CD1a, and showed a MIB-1 labeling index of 29.5%. By immunostaining, we confirmed LCH cells to be present in the galea with Gd enhancement and the skull without Gd enhancement on MRI. LCH cells might exist in the marginal cranium, if MRI shows only slight intensity change without Gd enhancement. Further evaluation to determine pathologically proven extent of LCH and its relation with neuroradiological diagnosis as well as clinical outcome is needed to understand heterogeneous response to surgical and/or nonsurgical treatment in LCH.
Brain Tumor Pathol 2014 Jul
PMID:Comparison of magnetic resonance imaging with invasive histological findings of Langerhans cell histiocytosis. 2460 97

Originally described as a systemic self-limiting disease in infancy, the spectrum of ALK-positive histiocytosis has recently been broadened to include localized diseases in older children and young adults. Despite different manifestations, these tumors share histologic characteristics and a highly recurrent KIF5B-ALK fusion. ALK-positive histiocytosis is poorly characterized in the breast. In this study, we report 3 cases of ALK-positive histiocytosis of the breast. The patients were Asian women, aged 16 to 45 years. Two patients presented with an isolated breast mass, while 1 exhibited multiorgan involvement. The latter patient received ALK inhibitor after surgery, which led to complete remission. Histologically, well-circumscribed tumors displayed fascicular and storiform growth of uniform, nonatypical spindle cells admixed with lymphocytic infiltrates. Fewer conventional epithelioid histiocytes with lobulated or clefted nuclei were observed within the same breast tumors in 2 cases or within a concomitant brain tumor in the third case. Touton-type giant cells were focally present in 2 cases. Immunohistochemically, tumor spindle, and epithelioid cells were diffusely positive for CD163 and ALK in all cases and focally positive for S100 protein in 1 of the cases. CD1a and langerin were negative. Actin-positive myofibroblasts were admixed within the tumor in 2 cases, and their reactive nature was highlighted using double immunostaining. Break-apart fluorescence in situ hybridization assay demonstrated gene rearrangements involving KIF5B and ALK in all the 3 cases. ALK-positive histiocytosis rarely occurs as a spindle cell breast tumor, and should be distinguished from other diseases such as inflammatory myofibroblastic tumors and spindled histiocytic reaction.
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PMID:ALK-positive Histiocytosis of the Breast: A Clinicopathologic Study Highlighting Spindle Cell Histology. 3282 30