Atypical cystic hypersecretory lesions of the breast commonly harbour TP53 alterations.
TP53
atypical cystic hypersecretory hyperplasia
breast
cystic hypersecretory carcinoma in situ
Journal
Histopathology
ISSN: 1365-2559
Titre abrégé: Histopathology
Pays: England
ID NLM: 7704136
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
revised:
28
08
2023
received:
29
06
2023
accepted:
11
09
2023
medline:
7
11
2023
pubmed:
29
9
2023
entrez:
29
9
2023
Statut:
ppublish
Résumé
Cystic hypersecretory lesions are rare and include atypical cystic hypersecretory hyperplasia (A-CHH) and cystic hypersecretory carcinoma in situ (CHC-IS). Despite detailed morphological descriptions, little is known about the genetic landscape of these lesions. We identified four A-CHH and three CHC-IS from 2010 to 2022. Patients ranged from 39 to 65 (median 49) years. All lesions showed characteristic cystically dilated ducts with colloid-like secretions lined by enlarged cells with hyperchromatic nuclei and at least moderate cytological atypia. CHC-IS was remarkable for a greater degree of intraductal proliferation, typically with a micropapillary pattern. Four patients had concurrent ipsilateral invasive carcinoma. Next-generation sequencing (104 cancer-associated genes) was successful in four, showing variants in TP53 (3), KEAP1 (1) and MDM2 (1). p53 immunohistochemistry was concordant with molecular results with mutant-pattern staining in three TP53-mutants and wild-type in one. In three cases where sequencing failed, one showed mutant p53 staining, one was wild-type and one had no remaining lesion. The combined molecular and immunohistochemical results demonstrated p53 alterations in one A-CHH and three CHC-IS. Based on this limited cohort, atypical cystic hypersecretory lesions appear to commonly harbour TP53 alterations. To our knowledge, this is the first study to characterise molecular alterations in this rare subset of breast lesions.
Substances chimiques
Kelch-Like ECH-Associated Protein 1
0
Tumor Suppressor Protein p53
0
NF-E2-Related Factor 2
0
TP53 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
989-993Subventions
Organisme : Vickery-Colvin Intradepartmental Grant
Informations de copyright
© 2023 John Wiley & Sons Ltd.
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