Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rosai-Dorfman Disease involves histiocytic proliferation of the lymphatic system. Extranodal disease involving the central nervous system is uncommon. Furthermore, the combination of this disease entity with Langerhans cell histiocytosis is an even rarer phenomenon that has only recently been highlighted. A young male, who had previously undergone surgical excision of a skull lesion that was reported as Langerhans histiocytosis presented with an intracranial lesion mimicking a meningioma. Histopathology of the lesion was reported as being consistent with Rosai-Dorfman disease and the patient is currently undergoing chemotherapy. This is only the second report of the co-occurrence of Langerhans histiocytosis and Rosai-Dorfman disease in the cranium and intracranial cavity. The possibility that the diseases represent different spectra of the same underlying pathology is one that merits more detailed analysis, especially at the genomic level.
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PMID:Co-occurrence of intracranial Rosai-Dorfman disease and Langerhans histiocytosis of the skull: case report and review of literature. 2603 95

Langerhans cell histiocytosis (LCH) is a rare disorder histologically characterized by the proliferation of Langerhans cells. Here we present the case of a 13-year-old girl with LCH wherein CT and MRI results led us to an initially incorrect diagnosis of meningioma. The diagnosis was corrected to LCH based on pathology findings. An intracranial mass was found mainly in the dura mater, with thickening of the surrounding dura. It appeared to be growing downward from the calvaria, pressing on underlying brain tissue, and had infiltrated the inner skull, causing a bone defect. The lesion was calcified with the typical dural tail sign. The dural origin of the lesion was verified upon surgical dissection. There are no previous reports in the literature describing LCH of dural origin presenting in young patients with typical dural tail signs and meningioma-like imaging findings. The current case report underscores the need for thorough histological and immunocytochemical examinations in LCH differential diagnosis.
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PMID:Case of Langerhans Cell Histiocytosis That Mimics Meningioma in CT and MRI. 2696 25

This short review highlights significant changes and recent findings incorporated to varying extent in the WHO 2016 definition of a variety of tumours, including peripheral nerve sheath tumours, meningiomas, mesenchymal nonmeningothelial tumours, melanocytic tumours, lymphomas and histiocytic tumours, germ cell tumours and non-neuroendocrine pituitary tumours. Most notable classification changes include: adding 'hybrid nerve sheath tumours' to the spectrum of benign nerve sheath tumours; an updated definition of atypical meningioma (WHO grade II), including cases with brain invasion; recognizing dural solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) as a single tumour entity characterized by NAB2 and STAT6 gene fusions for which the term SFT/HPC was chosen; recognizing that pituitary granular cell tumour, spindle cell oncocytoma, and pituicytoma all share nuclear expression of TTF-1, possibly representing a spectrum of a single nosological entity derived from posterior pituitary glial cells. The most significant diagnostic markers which have emerged include: inactivation of NF1, CDKN2A, and PRC2 components, SUZ12 and EED in MPNST, leading to neurofibromin and H3K27me3 expression loss; GNAQ and GNA11 mutations in CNS primary melanocytic tumours; BRAFV600E mutation in histiocytic tumours (Langerhans cell histiocytosis and Erdheim-Chester disease) and papillary craniopharyngioma, which provides both a diagnostic marker in the appropriate pathological setting and a therapeutic target. The WHO 2016 Classification has balanced cutting-edge knowledge on the molecular characteristics of the miscellaneous CNS tumours reviewed here with a practical approach for their daily diagnostic work-up. Much more progress can be expected in the classification of these neoplasms in the near future.
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PMID:WHO 2016 classification: changes and advancements in the diagnosis of miscellaneous primary CNS tumours. 2829 84

The histiocytic disorders are pathological diagnosis and rarely affects spine. The spinal involvement is characterized by lytic lesions and painful symptoms. Isolated intradural extramedullary involvement is rare presentation. A 15-year-old female patient presented with nontraumatic cervical compressive myelopathy and was operated electively with preoperative diagnosis of meningioma. The histopathology was surprisingly Langerhans cell histiocytosis. In lineage of histiocytic development, the Langerhans cells develop into matured dendritic cells and lose its Birbeck granules and CD1a antigenicity. With the understanding of histiocyte lineage system, the disorders concerned with central nervous system are classified into dendritic cell disorders and macrophages-related disorders. In this article, we have discussed on histiocytic disorders of central nervous system and management guidelines in case one comes across such histopathology.
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PMID:Isolated Langerhans Cell Histiocytosis Masquerading as Intradural Extramedullary Meningioma: Review on Histiocytic Disorders of Spine. 3131 44


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