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<p>Ovarian sex cord stromal tumors (SCSTs) are rarely linked to BAP1 tumor predisposition syndrome (BAP1-TPDS), their morphological and molecular correlates remain incompletely defined. To expand the BAP1-associated tumor spectrum, this study characterizes three <i>BAP1</i>-mutated ovarian SCSTs (two with a family history of malignant tumors, suggestive of possible BAP1-TPDS, although germline genetic testing was not performed and one sporadic case). This is the first case series reporting both subtypes. Patients aged 54–63&#xa0;years (median, 57&#xa0;years). Microscopically, all tumors were predominantly hypercellular with a sheet growth pattern, focal cord-like, whorled, storiform, pseudopapillary and tubular growth patterns were identified. The tumor cells have spindle to oval nuclei with irregular nuclear membranes and nuclear grooves, mitotic figures are rare (2–6/10 HPF), and no necrosis is observed. Immunohistochemically, tumors expressed α-inhibin, calretinin, and SF1, with reticulin-rich stroma surrounding cell clusters and universal BAP1 loss. Next-generation sequencing identified three pathogenic <i>BAP1</i> mutations: c.1153C &gt; T (p. Arg385*), c.447_450dup (p. His151Thrfs) with <i>BAP1</i> copy number loss/19q deletion, and c.205dup (p. Thr69Asnfs). Follow-up (32–37&#xa0;months) showed two late recurrences, with all patients alive. These findings define a distinct <i>BAP1</i>-mutated ovarian SCST subset, linking specific mutations to characteristic phenotypes and expanding the BAP1-TPDS clinical-pathological spectrum.</p>

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Clinicopathological and molecular characteristics of rare ovarian sex cord stromal tumors with BAP1 mutation

  • 期刊论文

  • 发表日期：

    2026年4月10日

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  • Hui Li,
  • Qianlan Yao,
  • Wentao Yang,
  • Xiaoyu Tu,
  • Xiaoyan Zhou,
  • Rui Bi

摘要

Ovarian sex cord stromal tumors (SCSTs) are rarely linked to BAP1 tumor predisposition syndrome (BAP1-TPDS), their morphological and molecular correlates remain incompletely defined. To expand the BAP1-associated tumor spectrum, this study characterizes three BAP1-mutated ovarian SCSTs (two with a family history of malignant tumors, suggestive of possible BAP1-TPDS, although germline genetic testing was not performed and one sporadic case). This is the first case series reporting both subtypes. Patients aged 54–63 years (median, 57 years). Microscopically, all tumors were predominantly hypercellular with a sheet growth pattern, focal cord-like, whorled, storiform, pseudopapillary and tubular growth patterns were identified. The tumor cells have spindle to oval nuclei with irregular nuclear membranes and nuclear grooves, mitotic figures are rare (2–6/10 HPF), and no necrosis is observed. Immunohistochemically, tumors expressed α-inhibin, calretinin, and SF1, with reticulin-rich stroma surrounding cell clusters and universal BAP1 loss. Next-generation sequencing identified three pathogenic BAP1 mutations: c.1153C > T (p. Arg385*), c.447_450dup (p. His151Thrfs) with BAP1 copy number loss/19q deletion, and c.205dup (p. Thr69Asnfs). Follow-up (32–37 months) showed two late recurrences, with all patients alive. These findings define a distinct BAP1-mutated ovarian SCST subset, linking specific mutations to characteristic phenotypes and expanding the BAP1-TPDS clinical-pathological spectrum.