Neurodegenerative Langerhans cell histiocytosis: long-term follow-up of 63 patients from the Italian Registry
Neurodegenerative Langerhans cell histiocytosis (ND-LCH) is a potentially devastating complication of LCH. We analyzed the natural history and the long-term outcome of patients with ND-LCH enrolled in the Italian LCH registry. ND-LCH was diagnosed in 63/637 patients with LCH (10%). Overall, at ND-LCH diagnosis 60% (38/63) patients were asymptomatic, 24% (15/63) had mild clinical manifestations including abnormal neurological examination and/or evoked potentials, and 16% (10/63) had overt symptoms. Brain MRI showed progressive structural changes in 13/63 (21%) patients over a median time of 1.5 years. Clinical ND-LCH developed after a median of 2.5 years since ND-LCH diagnosis. 30/63 patients (17 pauci-symptomatic, 11 symptomatic, two asymptomatic but with severe brain MRI) received treatment, and 17/30 (57%) were stable or improved at the last follow-up). 33/63 patients (mostly asymptomatic) were not treated and 31/33 (94%) remained stable through follow-up. At univariable analysis, the risk of developing overt clinical symptoms increased with LCH reactivations (OR 6.40, p=0.018), severe brain MRI abnormalities at ND-LCH diagnosis (OR 10.40, p.
Authors
- Annalisa Tondo (ORCID: https://orcid.org/0000-0003-2784-5487)
- Maria Luisa Coniglio (ORCID: https://orcid.org/0000-0002-3437-5180)
- Michele Tanturli (ORCID: https://orcid.org/0000-0002-2642-1706)
- Renzo Guerrini (ORCID: https://orcid.org/0000-0002-7272-7079)
- Francesco Pegoraro (ORCID: https://orcid.org/0000-0002-4954-5744)
- Antonio Verrico (ORCID: https://orcid.org/0000-0002-4648-4384)
- Marzia Mortilla (ORCID: https://orcid.org/0000-0003-4978-6537)
- Anna Perrone (ORCID: https://orcid.org/0000-0001-8108-7790)
- Alessandra Todesco
- Linda Beneforti (ORCID: https://orcid.org/0000-0002-9046-4786)
- Stefania Gaspari (ORCID: https://orcid.org/0000-0002-1387-0836)
- Aurora Chinnici (ORCID: https://orcid.org/0000-0001-6429-5942)
- Stefano Chiaravalli (ORCID: https://orcid.org/0000-0002-3044-6578)
- Katiuscia Romano
- Antonino Trizzino
- Irene Trambusti (ORCID: https://orcid.org/0000-0001-8106-8098)
- Elena Sieni (ORCID: https://orcid.org/0000-0002-6192-9812)
- Veronica Barat
- Carmen Barba (ORCID: https://orcid.org/0000-0001-5445-5842)
- Carmen De Fusco
- Paola Corti (ORCID: https://orcid.org/0000-0002-4178-3633)
- Monica Cellini
Institutions
- University of Padua (IT)
- Istituto Giannina Gaslini (IT)
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- Azienda Ospedaliero-Universitaria di Modena (IT)
- Azienda Ospedaliera San Gerardo (IT)
- Meyer Children's Hospital (IT)
- Bambino Gesù Children's Hospital (IT)
- Santobono Children's Hospital (IT)
- Azienda di Rilievo Nazionale ed Alta Specializzazione (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Fondazione IRCCS Istituto Nazionale dei Tumori (IT)
- University of Florence (IT)
Publication Details
- Journal
- Haematologica
- Published
- 2025-11-27
- DOI
- https://doi.org/10.3324/haematol.2025.288143
- Primary Topic
- Histiocytic Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00