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  1. Hanapiah F, Yaacob H, Ghani KS, Hussin AS
    J Nihon Univ Sch Dent, 1993 Sep;35(3):171-4.
    PMID: 8246038
    Histiocytosis X is a rare disorder with no particular predilection for race, age or sex. Since its discovery by Hand in 1893, the etiology has remained unknown, although viruses, bacteria and genetic factors have been implicated. Familial occurrence of this disease is very rare, and only a handful of such cases have been reported. The present study adds further evidence to support the influence of genetic factors in the etiology of histiocytosis X.
    Matched MeSH terms: Histiocytosis, Langerhans-Cell/genetics*
  2. Héritier S, Emile JF, Barkaoui MA, Thomas C, Fraitag S, Boudjemaa S, et al.
    J. Clin. Oncol., 2016 09 01;34(25):3023-30.
    PMID: 27382093 DOI: 10.1200/JCO.2015.65.9508
    PURPOSE: Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a broad spectrum of clinical manifestations and outcomes in children. The somatic BRAF(V600E) mutation occurs frequently, but clinical significance remains to be determined.

    PATIENTS AND METHODS: BRAF(V600E) mutation was investigated in a French LCH cohort. We analyzed associations between mutation status and clinical presentation, extent of disease, reactivation rate, response to therapy, and long-term permanent sequelae.

    RESULTS: Among 315 patients with successfully determined BRAF status, 173 (54.6%) carried a BRAF(V600E) mutation. Patients with BRAF(V600E) manifested more severe disease than did those with wild-type BRAF. Patients with BRAF(V600E) comprised 87.8% of patients (43 of 49) with multisystem LCH with risk organ involvement (liver, spleen, hematology), 68.6% of patients (35 of 51) with multisystem LCH without risk organ involvement, 43.9% of patients (86 of 196) with single-system LCH, and 42.1% of patients (8 of 19) with lung-involved LCH (P < .001). BRAF(V600E) mutation was also associated with organ involvement that could lead to permanent, irreversible damage, such as neurologic (75%) and pituitary (72.9%) injuries. Compared with patients with wild-type BRAF, patients with BRAF(V600E) more commonly displayed resistance to combined vinblastine and corticosteroid therapy (21.9% v 3.3%; P = .001), showed a higher reactivation rate (5-year reactivation rate, 42.8% v 28.1%; P = .006), and had more permanent, long-term consequences from disease or treatment (27.9% v 12.6%; P = .001).

    CONCLUSION: In children with LCH, BRAF(V600E) mutation was associated with high-risk features, permanent injury, and poor short-term response to chemotherapy. Further population-based studies should be undertaken to confirm our observations and to assess the impact of BRAF inhibitors for this subgroup of patients who may benefit from targeted therapy.

    Matched MeSH terms: Histiocytosis, Langerhans-Cell/genetics*
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