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

Sinus histiocytosis with massive lymphadenopathy (SHML), or Rosai-Dorfman disease, is rare histiocytic disorder of known origin which shares several cell markers with Langerhans' cell histiocytosis (LCH). Although Rosai-Dorfman cells exhibit an aberrant immunophenotype, the indolent clinical course of SHML suggests a reactive disorder rather than a neoplastic process. Until recently this was prevailing opinion concerning LCH also, but recent studies have detected clonal histiocytes in all forms of this latter condition, which is therefore considered a clonal neoplastic disorder with highly variable biological behaviour. To determine whether the histiocytic proliferation in SHML is polyclonal or clonal we used X-linked polymorphic loci to assess clonality in lesional tissues in two women. Polymorphic regions of the human androgen receptor (HUMARA) locus were amplified by polymerase chain reaction (PCR) analysis. The HUMARA locus was informative in both cases and, following digestion with methylation-sensitive enzymes, typical polyclonal X-inactivation patterns were observed. Since abnormal cells accounted for > 90% lesional tissue cells, we conclude that Rosai-Dorfman histiocytic proliferation was polyclonal in the women studied.
 ...
PMID:Evidence for a polyclonal nature of the cell infiltrate in sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease). 854 85

Chester-Erdheim disease is a rare non-langerhans cell histiocytosis characterized by a xanthomatous infiltration of foamy macrophages. The cause and pathogenesis remain unclear. The aim of the present study was to determine whether Chester-Erdheim disease is a polyclonal reactive disease or a clonal neoplastic disorder. The clonal status of samples obtained from five patients with Chester-Erdheim disease was studied. DNA was extracted from fixed and paraffin-embedded sections after microdissection and clonal status was studied using the Xchromosome inactivation pattern of the human androgen receptor gene (HUMARA assay). One patient was homozygous for the HUMARA gene and noninformative. Three other cases were monoclonal. One was polyclonal, and this case showed a dense reactive infiltrate in association with spumous macrophages. This study suggests strongly that Chester-Erdheim disease is a monoclonal lesion consistent with neoplastic disorder. Thus, Chester-Erdheim disease may be considered as the "macrophage" counterpart of Langerhan's cell histiocytosis in the histiocytosis spectrum. Further studies are needed to establish the origin of this clonal proliferation.
 ...
PMID:Chester-Erdheim disease: a neoplastic disorder. 1049 45

Langerhans cell histiocytosis (LCH) is a rare neoplastic disease of specific dendritic cells which belong to the monocyte-macrophage system. The association of LCH with autoimmune disease is extremely rare and to our knowledge its coexistence with systemic lupus erythematosus (SLE) has not been described so far. We report a case of LCH affecting liver, spleen and abdomen lymph nodes, which developed in an adult female six years after diagnosis of SLE treated for a long time with prednisone. Histology showed infiltration of characteristic Langerhans cells with folded, grooved or lobulated nuclei with fine chromatin. In the background there were eosinophils, lymphocytes and CD-68-positive histiocytes. The neoplastic cells were S100p-immunopositive, but stained negatively for CD1a--probably as the result of overfixation of consulted material. CD-68 was present mostly in macrophages. Ultrastructurally, the tumour cells presented structures consistent with Birbeck granules. Clonal origin of neoplastic cells was shown using the HUMARA-PCR assay. The disease was refractory to treatment with high doses of prednisone and vincristine but complete response was achieved after treatment with caldribine combined with cyclophosphamide.
 ...
PMID:Langerhans cell histiocytosis in a patient with systemic lupus erythematosus: a clonal disease responding to treatment with cladribine, and cyclophosphamide. 1248 6

The involvement of the gut by Langerhans cell histiocytosis (LCH) is very rare in adults; however this is usually observed with a disseminated disease in children. We report a 75-year-old male patient who underwent right hemicolectomy for a complicated intestinal diverticular disease. The surgical specimen revealed LCH-like proliferative lesion associated with diverticulitis. The overall morphological and immunohistochemical findings are indistinguishable from LCH. Systemic scans and subsequently performed bone marrow biopsies were free of disease. Although the HUMARA clonality assay cannot be assessed, the lack of evidence of LCH progression or disease elsewhere in the whole body strongly supported the possibility of an atypical reactive phenomenon probably due to the underlying intestinal diverticular disease. Therefore, it is important to avoid diagnosing such a unifocal Langerhans cell proliferation as LCH in patients with underlying pathologies in the absence of systemic involvement. Therefore, without knowledge of clonal status of a unifocal Langerhans cell proliferation, we recommend using the terminology of LCH-like lesion.
 ...
PMID:Intestinal Langerhans cell histiocytosis-like lesion in an adult presented with diverticulitis: a reactive or neoplastic condition? 2097 34