Clinicopathological analysis of 22 Müllerian adenosarcomas and the sequencing of DICER1 mutation.

Adenosarcoma DICER1 mutation Genetic screening Hotspot mutations

Journal

Diagnostic pathology

ISSN: 1746-1596

Titre abrégé: Diagn Pathol

Pays: England

ID NLM: 101251558

Informations de publication

Date de publication:
03 Apr 2024

Historique:

received: 11 10 2023

accepted: 04 03 2024

medline: 4 4 2024

pubmed: 4 4 2024

entrez: 3 4 2024

Statut: epublish

Résumé

Müllerian adenosarcoma, a rare malignancy, presents diagnostic and therapeutic challenges. In this study, we conducted an analysis of the clinicopathological characteristics of 22 adenosarcomas, with a particular focus on screening for DICER1 hot mutations. The cohort consisted of patients with adenosarcoma who were registered at the West China Second Hospital between the years 2020 and June 2022. Sanger sequencing was employed to screen for somatic Hotspot mutations in the RNase IIIb domain of DICER1 in the 22 adenosarcomas. Only one patient exhibited a DICER1 mutation that was not a DICER1 Hotspot mutation. Among the 22 patients, all underwent total hysterectomy with bilateral salpingo-oophorectomy, and 14 out of these 22 patients received adjuvant treatment. In summary, our study of 22 Müllerian adenosarcomas focused on the clinicopathological features and the presence of DICER1 Hotspot mutations. Although our findings did not reveal any DICER1 mutations in the studied samples, this negative result provides valuable information for the field by narrowing down the genetic landscape of adenosarcomas and highlighting the need for further research into alternative molecular pathways driving this malignancy.

Sections du résumé

BACKGROUND BACKGROUND

METHODS METHODS

The cohort consisted of patients with adenosarcoma who were registered at the West China Second Hospital between the years 2020 and June 2022. Sanger sequencing was employed to screen for somatic Hotspot mutations in the RNase IIIb domain of DICER1 in the 22 adenosarcomas.

RESULTS RESULTS

Only one patient exhibited a DICER1 mutation that was not a DICER1 Hotspot mutation. Among the 22 patients, all underwent total hysterectomy with bilateral salpingo-oophorectomy, and 14 out of these 22 patients received adjuvant treatment.

CONCLUSION CONCLUSIONS

In summary, our study of 22 Müllerian adenosarcomas focused on the clinicopathological features and the presence of DICER1 Hotspot mutations. Although our findings did not reveal any DICER1 mutations in the studied samples, this negative result provides valuable information for the field by narrowing down the genetic landscape of adenosarcomas and highlighting the need for further research into alternative molecular pathways driving this malignancy.

Identifiants

DOI: 10.1186/s13000-024-01477-2 PMID: 38570882

pubmed: 38570882

doi: 10.1186/s13000-024-01477-2

pii: 10.1186/s13000-024-01477-2

doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Pagination

Subventions

Organisme : Key research and development project of cadre health care in Sichuan Province Research on diagnostic strategy and clinicopathological study of endometrial cancer molecular typing

ID : ZH2023-1701

Organisme : The Clinical Discipline Development Fund of West China Second Hospital of Sichuan University, "Clinical Application Research on the Latest Molecular Typing Pathological Diagnosis Strategy and Scheme of Endometrial Cancer

ID : KS336

Organisme : Sichuan Science and Technology Department Natural Science Foundation "HPV vaccine clinical evaluation system and diagnostic kit development"

ID : 2023NSFSC0539

Organisme : Sichuan Province Science and Technology Support Program

ID : 2022NSFSC0708

Informations de copyright

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