Molecular alterations and prognosis of breast cancer with cutaneous metastasis

• DOI: 10.1186/s13000-024-01509-x
• Publication Date: 2024-07-05T07:01:49Z
• Authors: Yan Xu; Li Ding; Chao Li; Bin Hua; Sha Wang; Junli Zhang; Cuicui Liu; Rongyun Guo; YongQiang Zhang
• Keywords: Adult; Aged, 80 and over; 0301 basic medicine; Skin Neoplasms; Next-generation sequencing-NGS; Research; Cutaneous metastasis; High-Throughput Nucleotide Sequencing; Breast Neoplasms; Middle Aged; Prognosis; Immunohistochemistry; Genomic analysis; 03 medical and health sciences; Breast cancer; Mutation; Pathology; Biomarkers, Tumor; RB1-214; Humans; Female; Aged; Retrospective Studies

Abstract Purpose Cutaneous metastasis (CM) accounts for 5–30% of patients with breast cancer (BC) and presents unfavorable response to treatment poor prognosis. A better understanding the molecular alterations involved in is essential, which would help identify diagnostic efficacy biomarkers CM. Materials : We retrospectively reviewed a total 13 histological or cytological diagnosis Clinical information was extracted from medical records. The mutational landscape matched primary tumors their lymph nodes CM tissues were analyzed using next-generation sequencing (NGS) 425 cancer-relevant genes. All also by immunohistochemistry (IHC). association prognosis various clinical factors evaluated. Results More than half Ki67 low (< 50%, 53.7%). Most (12, 92.3%) had other sites skin. median time presentation (T1) 15 months (range: 0–94 months) death (T2) (range 1–78). most frequently altered genes across three types TP53 (69.6%, 16/23), PIK3CA (34.8%, 8/23), MYC (26.1%). number tends be higher (median 8 vs. 6, P = 0.077). Copy loss STK11 , copy gain FGFR4, TERT, AR, FLT4 VEGFA mutations ATRX, SRC, AMER1 RAD51C significantly enriched (all < 0.05). high group (> 50%) showed shorter T1 (≤ 12.5 50.0 months, 0.036). mutations, TERT amplification associated inferior T2 11 36 0.065; 0.013, 7 0.003, respectively). p values not adjusted. Conclusion compared genomic features corresponding discussed potential pathways that may contribute skin advanced cancers patients. mutant, serve as