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Background <p>The molecular clinicopathological characteristics of PIK3CA in metastatic breast cancer provide a genetic landscape of advanced stages. Investigating the prevalence and patterns of PIK3CA mutations in metastatic breast cancer patients provides valuable information about the molecular underpinnings of the disease.</p> Method <p>This was a retrospective observational study undertaken at the Department of Molecular Pathology and Genomics, Kokilaben Dhirubhai Ambani Hospital, spanning from January 2019 to January 2024. The study encompassed 57 female patients diagnosed with metastatic breast cancer, aged between 28 and 71 years. Genomic DNA was extracted from tissue blocks from excised breast biopsies preserved in Formalin-Fixed Paraffin-Embedded. The run was performed on Sanger by ABI 3500 Sequencer and analysis performed by Genemapper software.</p> Results <p>Among the 57 breast cancer patients, PIK3CA was found positive in 33 (56%) of cases, with invasive Ductal Carcinoma as the prevailing histological subtype, constituting 96% of cases. Among the positive cases, Molecular subtype Luminal A was seen in 23 patients (69%), 7 showed Luminal B (21%) and 3 as Triple negative breast cancer (TNBC) (9%). Among 23 luminal A subtype, exon 10 hot spots (p.E545K and p.E542K) carried 8 cases (34.1%), while exon 21 hot spot (p.1047&#xa0;K) carried 13 cases (56.5%). In Luminal B cases, the majority (71.4%) showed exon 10 (p.E545K and p.E542K). Treatment responses in few patients undergoing targeted therapies such as Alpelisib in combination with fulvestrant, or Everolimus + Exemestane were observed which included partial response and stable disease.</p> Conclusion <p>The prevalence of PIK3CA mutations, underscores its pivotal role in the pathogenesis of metastatic breast cancer. The observed correlation between molecular subtyping with PIK3CA mutation type, provides valuable information for tailoring targeted interventions. Furthermore, early and timely genetic testing can be a good practice to help diversify the treatment protocols and good response.</p>

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Molecular Subtyping and Classification of PIK3CA Mutations in Metastatic Breast Cancer

  • 期刊论文

  • 发表日期：

    2025年8月26日

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  • Amrit Kaur Kaler,
  • Manish Jethani,
  • Mandar Nadkarni,
  • Yash Tiwarekar,
  • Varsha Balaji,
  • Tanmay Wairkar,
  • Bijal Kulkarni,
  • Nevitha Athikari,
  • Shalaka Satpute,
  • Ratika Agarwal,
  • Shruthi Kumar,
  • Vidhi Shah,
  • Sandeep Goyle,
  • Imran Shaikh,
  • Rajesh Mistry

摘要

Background

The molecular clinicopathological characteristics of PIK3CA in metastatic breast cancer provide a genetic landscape of advanced stages. Investigating the prevalence and patterns of PIK3CA mutations in metastatic breast cancer patients provides valuable information about the molecular underpinnings of the disease.

Method

This was a retrospective observational study undertaken at the Department of Molecular Pathology and Genomics, Kokilaben Dhirubhai Ambani Hospital, spanning from January 2019 to January 2024. The study encompassed 57 female patients diagnosed with metastatic breast cancer, aged between 28 and 71 years. Genomic DNA was extracted from tissue blocks from excised breast biopsies preserved in Formalin-Fixed Paraffin-Embedded. The run was performed on Sanger by ABI 3500 Sequencer and analysis performed by Genemapper software.

Results

Among the 57 breast cancer patients, PIK3CA was found positive in 33 (56%) of cases, with invasive Ductal Carcinoma as the prevailing histological subtype, constituting 96% of cases. Among the positive cases, Molecular subtype Luminal A was seen in 23 patients (69%), 7 showed Luminal B (21%) and 3 as Triple negative breast cancer (TNBC) (9%). Among 23 luminal A subtype, exon 10 hot spots (p.E545K and p.E542K) carried 8 cases (34.1%), while exon 21 hot spot (p.1047 K) carried 13 cases (56.5%). In Luminal B cases, the majority (71.4%) showed exon 10 (p.E545K and p.E542K). Treatment responses in few patients undergoing targeted therapies such as Alpelisib in combination with fulvestrant, or Everolimus + Exemestane were observed which included partial response and stable disease.

Conclusion

The prevalence of PIK3CA mutations, underscores its pivotal role in the pathogenesis of metastatic breast cancer. The observed correlation between molecular subtyping with PIK3CA mutation type, provides valuable information for tailoring targeted interventions. Furthermore, early and timely genetic testing can be a good practice to help diversify the treatment protocols and good response.