Gene expression profiling for the diagnosis of male breast cancer DOI Creative Commons

Jing Liu,

Yifeng Sun, Qi Peng

et al.

BMC Cancer, Journal Year: 2024, Volume and Issue: 24(1)

Published: Dec. 27, 2024

Abstract Background Male breast cancer (MBC) is a rare malignancy, but its global incidence has shown notable increase in recent decades. Factors such as limited health literacy, inadequate education, and reluctance to seek medical attention contribute the late-stage diagnosis of most MBC patients. Consequently, there an urgent need for highly specific sensitive diagnostic approach MBC. Methods This retrospective study enrolled 20 patients with 30 surgical or biopsy specimens from August 2020 2023. The 90-gene expression assay was performed determine tissue origin. Predicted tumor types were then compared reference accuracy calculation. differentially expressed genes identified between male female cancer. Result demonstrated overall 96.7% (29/30) when pathological diagnosis. For primary, lymph node metastatic, distant metastatic tumors, accuracies 100% (15/15), 90.9% (10/11), (4/4), respectively. Five ( RPS4Y1 , PI15 AZGP1 PRRX1 AGR2 ) up-regulated, six XIST PIGR SFRP1 PLA2G2A S100A2 CHI3L1 down-regulated Conclusion Our findings highlight promising performance accurately identifying origin Incorporating this into diagnoses potential empower oncologists precision treatment options, ultimately enhancing care outcomes

Language: Английский

Mutational landscape and DNA methylation-based classification of squamous cell carcinoma and urothelial carcinoma DOI
Min Ren, Chen Chen,

Midie Xu

et al.

Research Square (Research Square), Journal Year: 2025, Volume and Issue: unknown

Published: April 14, 2025

Abstract Background Identification of the tissue origin is fundamental for cancer treatment. However, squamous cell carcinomas from different sites lack representative histological and immunohistochemical features. This study aimed to identify mutational profiles further establish a DNA methylation-based classification carcinoma urothelial carcinoma. Samples unambiguous were collected targeted next-generation sequencing landscape analysis. Moreover, using Illumina methylation BeadChip data public datasets local cohort, we developed classifier utilizing CatBoost algorithm four common types (lung, head neck, esophagus, cervix) as well Results The overlapped greatly, there was no significant difference in tumor mutation burden or microsatellite status. On basis analyses via various machine learning algorithms, containing 106 features by constructed reached an accuracy 98.79% (490/496) training set PanCanAtlas datasets. predictive accuracies validation FUSCC 1 with known primary 86.96% (340/391) 84.87% (101/119), respectively. samples (89.66%, 78/87) obviously greater than that metastatic (71.88%, 23/32). 2 included ten complicated unknown (CUP) differentiation. When well-established 90-gene expression assay compared present classification, our successfully classified two eligible RNA expression; results sample consistent higher prediction scores three, those inconsistent. remaining more compatible clinical evaluation. Conclusion We established outstanding diagnostic performance first time. has high potential translation address dilemma identifying primary.

Language: Английский

Citations

0
Advancements in Diagnostics and Therapeutics for Cancer of Unknown Primary in the Era of Precision Medicine DOI Creative Commons
Ting Zhao, Xiaowei Zhang, Xin Liu

et al.

MedComm, Journal Year: 2025, Volume and Issue: 6(5)

Published: April 16, 2025

ABSTRACT Cancer of unknown primary (CUP), a set histologically confirmed metastases that cannot be identified or traced back to its despite comprehensive investigations, accounts for 2–5% all malignancies. CUP is the fourth leading cause cancer‐related deaths worldwide, with median overall survival (OS) 3–16 months. has long been challenging diagnose principally due occult properties site. In current era molecular diagnostics, advancements in methodologies based on cytology, histology, gene expression profiling (GEP), and genomic epigenomic analysis have greatly improved diagnostic accuracy CUP, surpassing 90%. Our center conducted world's first phase III trial demonstrated progression‐free favorable OS by GEP‐guided site‐specific treatment setting foundation first‐line management CUP. this review, we detailed epidemiology, etiology, pathogenesis, as well histologic, genetic, clinical characteristics We also provided an overview diagnostics therapeutics over past 50 years. Moving forward, propose optimizing modalities exploring further‐line regimens two focus areas future studies

Language: Английский

Citations

0
Gene expression profiling for the diagnosis of male breast cancer DOI Creative Commons

Jing Liu,

Yifeng Sun, Qi Peng

et al.

BMC Cancer, Journal Year: 2024, Volume and Issue: 24(1)

Published: Dec. 27, 2024

Abstract Background Male breast cancer (MBC) is a rare malignancy, but its global incidence has shown notable increase in recent decades. Factors such as limited health literacy, inadequate education, and reluctance to seek medical attention contribute the late-stage diagnosis of most MBC patients. Consequently, there an urgent need for highly specific sensitive diagnostic approach MBC. Methods This retrospective study enrolled 20 patients with 30 surgical or biopsy specimens from August 2020 2023. The 90-gene expression assay was performed determine tissue origin. Predicted tumor types were then compared reference accuracy calculation. differentially expressed genes identified between male female cancer. Result demonstrated overall 96.7% (29/30) when pathological diagnosis. For primary, lymph node metastatic, distant metastatic tumors, accuracies 100% (15/15), 90.9% (10/11), (4/4), respectively. Five ( RPS4Y1 , PI15 AZGP1 PRRX1 AGR2 ) up-regulated, six XIST PIGR SFRP1 PLA2G2A S100A2 CHI3L1 down-regulated Conclusion Our findings highlight promising performance accurately identifying origin Incorporating this into diagnoses potential empower oncologists precision treatment options, ultimately enhancing care outcomes

Language: Английский

Citations

1