Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study

AbstractNeurodegenerative (ND) complications in Langerhans cell histiocytosis (LCH) are a late ‐onset but dramatic sequelae for which incidence and risk factors are not well defined. Based on a national prospective registry of paediatric LCH patients, we determined the incidence rate of clinical ND LCH (cND‐LCH) and analysed risk factors, taking into account disease extent and molecular c haracteristics. Among 1897 LCH patients, 36 (1·9%) were diagnosed with a cND‐LCH. The 10‐year cumulative incidence of cND‐LCH was 4·1%. cND‐LCH typically affected patients previously treated for a multisystem, risk organ–negative LCH, represented in 69·4% of cND‐LCH cases. Pituitary g land, skin and base skull/orbit bone lesions were more frequent (P  < 0 ·001) in cND‐LCH patients compared to those without cND‐LCH (respectively 86·1% vs. 12·2%, 75·0% vs. 34·2%, and 63·9% vs. 28·4%). The ‘cND susceptible patients’ (n = 671) i.e., children who had experienced LCH disease with pituitary or skull base or orbit bone involvement, had a 10‐year cND risk of 7·8% vs. 0% for patients who did not meet these criteria. Finally,BRAFV600E status added important information among these cND susceptible patients, with the 10 ‐year cND risk of 33·1% if aBRAFV600E mutation was present compared to 2 ·9% if it was absent (P  = 0 ·002).
Source: British Journal of Haematology - Category: Hematology Authors: Tags: Research Paper Source Type: research