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<p>Pregnancy-associated breast cancer (PABC), diagnosed during or shortly after pregnancy, is a challenging entity with an aggressive biology and poor prognosis. This study analyzed the clinicopathological characteristics and gene expression profile of 33 PABC and 26 non-PABC patients using the nCounter BC360 Panel (NanoString). Notably, PABC showed a higher prevalence of basal-like tumors than non-PABC (48.48% vs 15.38%, <i>p</i> = 0.012) and displayed 73 differentially expressed genes (e.g., <i>DEPDC1</i>, <i>CCNA2</i>, <i>PSAT1</i>, <i>CDKN3</i>, and <i>FAM83D</i>), enriched in DNA repair and cell proliferation pathways. Through the PPI network, we also identified a cluster of cell-cycle regulation genes like <i>MYC</i>, <i>FOXM1</i>, or <i>PTEN</i>. Interestingly, differences emerged when comparing patients diagnosed during gestation (PABC-GS) and the postpartum period (PABC-PP), with PABC-PP showing increased expression of immune-related genes, including <i>PD-1</i>, and greater immune cell infiltration (Tregs, macrophages, neutrophils, B-cells). These findings suggest an enhanced proliferative capacity and impaired DNA repair in PABC, and underscore the role of immune infiltration in postpartum cases; providing insights into its aggressive nature and potential targets.</p>

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Molecular characterization of pregnancy-associated breast cancer and insights on timing from GEICAM-EMBARCAM study

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年2月8日

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  • Regina Peña-Enríquez,
  • Begoña Bermejo,
  • Marina Pollán,
  • Alejandra Díaz-Chacón,
  • Yolanda Jerez Gilarranz,
  • José J Ponce Lorenzo,
  • Antonio Fernández Aramburo,
  • Blanca Cantos Sánchez de Ibargüen,
  • Ana Santaballa Bertrán,
  • Elena Galve-Calvo,
  • Álvaro Jiménez-Arranz,
  • Yolanda Fernández,
  • María Eva Pérez,
  • Susana De La Cruz,
  • Antonio Anton-Torres,
  • Fernando Moreno,
  • María Jesús Vidal-Losada,
  • María Helena López-Ceballos,
  • Isabel Blancas,
  • María José Echarri,
  • Raúl Rincón,
  • Rosalía Caballero,
  • Ángel Guerrero-Zotano,
  • Silvia Guil-Luna,
  • Juan de la Haba-Rodríguez

摘要

Pregnancy-associated breast cancer (PABC), diagnosed during or shortly after pregnancy, is a challenging entity with an aggressive biology and poor prognosis. This study analyzed the clinicopathological characteristics and gene expression profile of 33 PABC and 26 non-PABC patients using the nCounter BC360 Panel (NanoString). Notably, PABC showed a higher prevalence of basal-like tumors than non-PABC (48.48% vs 15.38%, p = 0.012) and displayed 73 differentially expressed genes (e.g., DEPDC1, CCNA2, PSAT1, CDKN3, and FAM83D), enriched in DNA repair and cell proliferation pathways. Through the PPI network, we also identified a cluster of cell-cycle regulation genes like MYC, FOXM1, or PTEN. Interestingly, differences emerged when comparing patients diagnosed during gestation (PABC-GS) and the postpartum period (PABC-PP), with PABC-PP showing increased expression of immune-related genes, including PD-1, and greater immune cell infiltration (Tregs, macrophages, neutrophils, B-cells). These findings suggest an enhanced proliferative capacity and impaired DNA repair in PABC, and underscore the role of immune infiltration in postpartum cases; providing insights into its aggressive nature and potential targets.