Spatial transcriptomics of a giant pilomatricoma.
adnexal and skin
beta-catenin
gene expression profiling
neoplasms
pilomatricoma
spatial transcriptomics
Journal
Journal of cutaneous pathology
ISSN: 1600-0560
Titre abrégé: J Cutan Pathol
Pays: United States
ID NLM: 0425124
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
revised:
16
08
2023
received:
02
05
2023
accepted:
21
08
2023
medline:
3
11
2023
pubmed:
31
8
2023
entrez:
31
8
2023
Statut:
ppublish
Résumé
Pilomatricomas (PMs) are common benign adnexal tumors that show a predilection for the head and neck region and are characterized at the molecular level by activating mutations in the beta-catenin (CTNNB1) gene. Giant PMs are a rare histopathological variant, according to the World Health Organization, which are defined by a size greater than 4 cm and are reported to show upregulation of yes-associated protein compared to PMs of typical 1-3 cm size. We describe the case of a 67-year-old man with an 8 cm giant PM involving his temporal scalp, whose PM we characterized by 10X spatial gene expression analysis. This revealed five total transcriptomic clusters, including four distinct clusters within the giant PM, each with a unique transcriptional pattern of hair follicle-related factors, keratin gene expression, and beta-catenin pathway activity.
Identifiants
pubmed: 37649312
doi: 10.1111/cup.14524
pmc: PMC10591970
mid: NIHMS1930690
doi:
Substances chimiques
beta Catenin
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
963-970Subventions
Organisme : NCI NIH HHS
ID : P30 CA014520
Pays : United States
Organisme : NIH HHS
ID : S10 OD023526
Pays : United States
Organisme : NIDDK NIH HHS
ID : K08 DK127244
Pays : United States
Organisme : NHLBI NIH HHS
ID : T32 HL007899
Pays : United States
Organisme : NIH HHS
ID : K08DK127244
Pays : United States
Organisme : NIH HHS
ID : T32HL007899
Pays : United States
Informations de copyright
© 2023 The Authors. Journal of Cutaneous Pathology published by John Wiley & Sons Ltd.
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