Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Langerhans cell histiocytosis
Prognosis
Target gene sequencing
Unifocal
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
30 Nov 2023
30 Nov 2023
Historique:
received:
19
09
2023
accepted:
19
11
2023
medline:
4
12
2023
pubmed:
1
12
2023
entrez:
1
12
2023
Statut:
epublish
Résumé
Langerhans cell histiocytosis (LCH) is a rare highly heterogeneous histiocytosis, which can be divided into single system and multiple system disease according to site of involvement. There is a paucity of studies examining unifocal LCH in adults in the molecular era. We retrospectively analysed records from 70 patients with unifocal LCH. The median age at diagnosis was 36 years (18-69). The most common organ involved was the bone (70.0%), followed by pituitary gland (7.1%). Target gene sequencing of lesion tissues was performed on 32 of the 70 patients. MAPK/PI3K pathway alterations were observed in 78.1% of the patients; the most common mutations included BRAF In our large cohort of adults with unifocal LCH, we found that prognosis of unifocal LCH in adults was very good, and age < 30 years at diagnosis was associated with increased relapse risk.
Sections du résumé
BACKGROUND
BACKGROUND
Langerhans cell histiocytosis (LCH) is a rare highly heterogeneous histiocytosis, which can be divided into single system and multiple system disease according to site of involvement. There is a paucity of studies examining unifocal LCH in adults in the molecular era.
RESULTS
RESULTS
We retrospectively analysed records from 70 patients with unifocal LCH. The median age at diagnosis was 36 years (18-69). The most common organ involved was the bone (70.0%), followed by pituitary gland (7.1%). Target gene sequencing of lesion tissues was performed on 32 of the 70 patients. MAPK/PI3K pathway alterations were observed in 78.1% of the patients; the most common mutations included BRAF
CONCLUSIONS
CONCLUSIONS
In our large cohort of adults with unifocal LCH, we found that prognosis of unifocal LCH in adults was very good, and age < 30 years at diagnosis was associated with increased relapse risk.
Identifiants
pubmed: 38037140
doi: 10.1186/s13023-023-02989-8
pii: 10.1186/s13023-023-02989-8
pmc: PMC10691033
doi:
Substances chimiques
Phosphatidylinositol 3-Kinases
EC 2.7.1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
372Subventions
Organisme : Beijing Natural Science Haidian frontier Foundation
ID : L222081
Organisme : National Key R&D Program of China, Ministry of Science and Technology of the People's Republic of China
ID : 2022YFC2304605
Organisme : National High Level Hospital Clinical Research Funding
ID : 2022-PUMCH-B-046
Informations de copyright
© 2023. The Author(s).
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