Common progenitor origin for Rosai-Dorfman disease and clear cell sarcoma.
NRAS mutation
Rosai–Dorfman disease
TP53 mutation
clear cell sarcoma
histiocytic neoplasms
neural crest cells
whole‐exome sequencing
Journal
The Journal of pathology
ISSN: 1096-9896
Titre abrégé: J Pathol
Pays: England
ID NLM: 0204634
Informations de publication
Date de publication:
03 Sep 2024
03 Sep 2024
Historique:
revised:
22
07
2024
received:
28
05
2024
accepted:
29
07
2024
medline:
3
9
2024
pubmed:
3
9
2024
entrez:
3
9
2024
Statut:
aheadofprint
Résumé
Histiocytic neoplasms (HNs) in adults have been reported to be associated with a high prevalence of coexisting haematological and solid malignancies. While a proportion of coexisting HNs and haematological malignancies share identical genetic alterations, the genetic association between HNs and solid malignancies has scarcely been reported. We report a case of Rosai-Dorfman disease (RDD) complicated by coexisting clear cell sarcoma (CCS). RDD is a rare HN. CCS is an ultrarare soft tissue sarcoma with a poor prognosis. Mutation analysis with whole-exome sequencing revealed six shared somatic alterations including NRAS p.G12S and TP53 c.559+1G>A in both the RDD and CCS tissue. This is the first evidence of a clonal relationship between RDD and solid malignancies using mutational analysis. We hypothesise that neural crest cells, which originate in CCS, are likely the common cells of origin for RDD and CCS. This case helps to unravel the underlying clinicopathological mechanisms of increased association of solid malignancies in HNs. © 2024 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Japan Agency for Medical Research and Development
ID : JP23ck0106852s0701
Organisme : Ministry of Health Labour and Welfare
ID : JP23FC1024
Organisme : Japan Society for the Promotion of Science
ID : JP23753392
Informations de copyright
© 2024 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
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