Permanent consequences in Langerhans cell histiocytosis patients: A pilot study from the Histiocyte Society—Late Effects Study Group

Haupt, Riccardo; Nanduri, Vasanta; Calevo, Maria Grazia; Bernstrand, Cecilia; Braier, Jorge; Broadbent, Valerie; Rey, Guadalupe; McClain, Kenneth L.; Janka‐Schaub, Gritta; Egeler, R. Maarten

doi:10.1002/pbc.20021

Cited by 208 publications

(151 citation statements)

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“…6 The disease course has a spectrum from spontaneous resolution to progressive multisystem disorder, and may also involve potential life-threatening complications. [6][7][8][9] The most common clinical presentation of LCH in children is pain. They mostly develop localized soft tissue swelling, often with bone defects that are sharply demarcated on palpation.…”

Section: Discussionmentioning

confidence: 99%

LANGERHANS CELL HISTIOCYTOSIS OF THE SCAPULA - DIAGNOSIS & TREATMENT OPTIONS

et al. 2017

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Langerhans cell histiocytosis (LCH) is characterised by an abnormal histiocytic accumulation in tissues such as the lung, spleen, bone marrow, skin, central nervous system, liver and lymph nodes, causing focal or systemic effects. No specific clinical & radiographic presentation of LCH is described in literature. This poses a diagnostic dilemma for surgeons. The scapula is the site of 3% of bone tumours, while for LCH it is the least common site. In a 10-year-old boy with isolated lesion of the scapula with no other systemic involvement, and no specific finding in MRI or CT scan of scapula, diagnosis was confirmed on biopsy. Division into single and multi-system disease is paramount in treatment, given that it is a single system disease. The patient improved clinically on follow-up of 2 years. The scapula is one of the rarest site of LCH, and because various lesions mimic each other, a biopsy is always required, with immunohistochemistry for CD68 & S-100. This was only a single system disease, so conservative management was performed, and the patent improved clinically.Keywords: Histiocytosis, Langerhans-cell; Scapula; Immunohistochemistry. RESUMO

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Section: Discussionmentioning

confidence: 99%

LANGERHANS CELL HISTIOCYTOSIS OF THE SCAPULA - DIAGNOSIS & TREATMENT OPTIONS

et al. 2017

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“…Despite a low mortality rate, 3,4 long term, irreversible adverse effects are common. 5 In particular, endocrine dysfunction, secondary to pituitary involvement, and neurodegenerative disease are reported in approximately 20% and 5% of cases, respectively. 6 Currently, the molecular mechanisms that underlie these different LCH subtypes remain poorly understood.…”

Section: Introductionmentioning

confidence: 99%

BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy

Héritier

Émile

Barkaoui

et al. 2016

JCO

261

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International audiencePurpose Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a broad spectrum of clinical manifestations and outcomes in children. The somatic BRAFV600E mutation occurs frequently, but clinical significance remains to be determined. Patients and Methods BRAFV600E 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 BRAFV600E mutation. Patients with BRAFV600E manifested more severe disease than did those with wild-type BRAF. Patients with BRAFV600E 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). BRAFV600E 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 BRAFV600E 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, BRAFV600E 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. © 2016 by American Society of Clinical Oncology

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“…Axillary lymph node enlargement has been observed in 48.5% of cases (14). The involvement of the bone marrow, lymph node and the posterior pituitary gland is suggestive of a high-risk multisystem disease (15), which is associated with long-term complications (39). The presence of anaemia (haemoglobin concentration < 10g/dl) is indicative of the bone marrow, which was present in our patient (25).…”

Section: Table 1: Laboratory Findingsmentioning

confidence: 49%