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<p>Testicular adult granulosa cell tumors (AGCTs) are rare and show several clinical, pathological, and molecular differences with their ovarian counterparts. <i>FOXL2</i> p.Cys134Trp, the ubiquitous molecular driver of ovarian AGCTs, is infrequent (~ 7%) in testicular AGCTs. Recently, <i>FGFR1</i> hotspot mutations were reported as a potentially “alternative molecular driver” in <i>FOXL2</i>-wild type (WT) ovarian AGCTs. A systematic assessment&#xa0;of <i>FGFR1</i> status has not been performed in testicular AGCTs. Recently,&#xa0;our group analyzed a&#xa0;series of twenty testicular&#xa0;AGCTs&#xa0;using two NGS panels&#xa0;that lacked&#xa0;coverage of <i>FGFR1</i>. Among&#xa0;twelve cases analyzed successfully, none harbored pathogenic <i>FOXL2</i>&#xa0;variants. In this study, we reassessed the tumors from our&#xa0;prior series with an NGS panel that covers <i>FGFR1</i>. Among the 14 tumors (70%) that were sequenced successfully, none harbored pathogenic <i>FGFR1</i> variants. Considering the AGCTs assessed in this study and those previously reported in the literature,&#xa0;none of the 24 tumors analyzed to date have shown pathogenic <i>FGFR1</i> variants. The present study reinforces the concept that testicular&#xa0;sex cord-stromal tumors classified as AGCTs are different from ovarian counterparts.</p>

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FGFR1 mutations identified in FOXL2-wild type ovarian adult granulosa cell tumors are not present in testicular counterparts: Re-analysis of a multi-institutional series

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月18日

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  • Costantino Ricci,
  • Dario de Biase,
  • Thais Maloberti,
  • Agnese Orsatti,
  • Thomas M. Ulbright,
  • Muhammad T. Idrees,
  • Esther Oliva,
  • Kristine Cornejo,
  • João Lobo,
  • Kvetoslava Michalova,
  • Maria Rosaria Raspollini,
  • Sean R. Williamson,
  • Geert J. L. H. van Leenders,
  • Chia-Sui Kao,
  • Fiona Maclean,
  • Ankur R. Sangoi,
  • Adeboye O. Osunkoya,
  • Michelangelo Fiorentino,
  • Antonio De Leo,
  • Giovanni Tallini,
  • Andres Martin Acosta

摘要

Testicular adult granulosa cell tumors (AGCTs) are rare and show several clinical, pathological, and molecular differences with their ovarian counterparts. FOXL2 p.Cys134Trp, the ubiquitous molecular driver of ovarian AGCTs, is infrequent (~ 7%) in testicular AGCTs. Recently, FGFR1 hotspot mutations were reported as a potentially “alternative molecular driver” in FOXL2-wild type (WT) ovarian AGCTs. A systematic assessment of FGFR1 status has not been performed in testicular AGCTs. Recently, our group analyzed a series of twenty testicular AGCTs using two NGS panels that lacked coverage of FGFR1. Among twelve cases analyzed successfully, none harbored pathogenic FOXL2 variants. In this study, we reassessed the tumors from our prior series with an NGS panel that covers FGFR1. Among the 14 tumors (70%) that were sequenced successfully, none harbored pathogenic FGFR1 variants. Considering the AGCTs assessed in this study and those previously reported in the literature, none of the 24 tumors analyzed to date have shown pathogenic FGFR1 variants. The present study reinforces the concept that testicular sex cord-stromal tumors classified as AGCTs are different from ovarian counterparts.