Clinical, laboratory and genetic features of Erdheim-Chester disease patients: analysis of a retrospective cohort of two reference centers in Latin America.
Hematology
; 27(1): 65-69, 2022 Dec.
Article
em En
| MEDLINE
| ID: mdl-34957931
Objectives and Methods: Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm with a heterogeneous clinical course, ranging from localized and asymptomatic bone lesions to a multisystem disease, causing significant morbidity and mortality. There are few cohorts published, mainly from North America and Europe. We retrospectively collected clinical data on sixteen biopsy-proven ECD patients diagnosed and treated at two Brazilian reference centres for histiocytic disorders from January 2006 to February 2020.Results: Median time from onset of symptoms to diagnosis was 13 months (0.1-142). The main organ involved in ECD was bone (75%) and also 75% of the patients presented involvement of more than one organ, characterizing a multi-organic form. BRAF status was available in 81.2% of patients and BRAF V600E mutation was detected by Sanger sequencing in only 18.8%, which can be explained by the low sensitivity of this technique. All patients were treated due to symptomatic disease and a median of two lines (range: 1-7) of therapy were needed. The most common first-line therapy used was α-interferon (75%). The median progression-free survival was 7.5 months, and the median OS was not reached.Discussion and Conclusion: In the largest Latin American cohort of patients with ECD reported to date, we observed findings which resemble demographic characteristics, sites of involvement and treatment choices reported by other groups. The outcomes may be better with target therapies such as BRAF and MEK inhibitors in patients with mutation and with the adoption of recently published consensus recommendations for the management of ECD patients.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Biomarcadores Tumorais
/
Predisposição Genética para Doença
/
Doença de Erdheim-Chester
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Estudos de Associação Genética
Tipo de estudo:
Guideline
/
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Humans
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Hematology
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Reino Unido