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<p><i>BAP1</i> tumour predisposition syndrome (<i>BAP1</i>-TPDS) is a hereditary cancer syndrome caused by heterozygous pathogenic germline variants in <i>BAP1</i>. <i>BAP1</i>-TPDS is associated with an increased risk for various malignant tumours, the core of which is uveal and cutaneous melanoma, malignant mesothelioma, and renal cell carcinoma. In <i>BAP1</i>-TPDS, the majority of disease-causing <i>BAP1</i> variants are null variants, although missense variants have been reported. We report a patient with <i>BAP1</i>-TPDS caused by the novel germline <i>BAP1</i> missense variant NM_004656.4:c.382G &gt; A, p.(Gly128Arg). The patient developed <i>BAP1</i>-inactivated melanocytic tumours, clear-cell renal cell carcinoma, and splenic hamartoma. An incidental splenic hamartoma was detected in existing tissue slides from the patient’s deceased first-degree relative, who was an obligate carrier for <i>BAP1</i>-TPDS. In both splenic hamartomas, loss of BAP1 nuclear staining was detected in a subset of cells on immunohistochemistry. To our knowledge, this is the first report with immunohistochemical data supporting biallelic loss of <i>BAP1</i> as a contributing step in the development of a splenic hamartoma in a patient with <i>BAP1</i>-TPDS. It supports expanding the tumour spectrum of <i>BAP1</i>-TPDS to splenic hamartoma and possibly other benign splenic tumours.</p>

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Splenic hamartoma in two related patients with BAP1 tumour predisposition syndrome caused by a novel germline BAP1 p.(Gly128Arg) missense variant

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月19日

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  • Kristjan Ari Ragnarsson,
  • Gloria Garcia,
  • Jon Gunnlaugur Jonasson,
  • Gudny Anna Arnadottir,
  • Sigrun Edda Reykdal,
  • Reynir Arngrimsson,
  • Sigurdis Haraldsdottir,
  • Jon Johannes Jonsson

摘要

BAP1 tumour predisposition syndrome (BAP1-TPDS) is a hereditary cancer syndrome caused by heterozygous pathogenic germline variants in BAP1. BAP1-TPDS is associated with an increased risk for various malignant tumours, the core of which is uveal and cutaneous melanoma, malignant mesothelioma, and renal cell carcinoma. In BAP1-TPDS, the majority of disease-causing BAP1 variants are null variants, although missense variants have been reported. We report a patient with BAP1-TPDS caused by the novel germline BAP1 missense variant NM_004656.4:c.382G > A, p.(Gly128Arg). The patient developed BAP1-inactivated melanocytic tumours, clear-cell renal cell carcinoma, and splenic hamartoma. An incidental splenic hamartoma was detected in existing tissue slides from the patient’s deceased first-degree relative, who was an obligate carrier for BAP1-TPDS. In both splenic hamartomas, loss of BAP1 nuclear staining was detected in a subset of cells on immunohistochemistry. To our knowledge, this is the first report with immunohistochemical data supporting biallelic loss of BAP1 as a contributing step in the development of a splenic hamartoma in a patient with BAP1-TPDS. It supports expanding the tumour spectrum of BAP1-TPDS to splenic hamartoma and possibly other benign splenic tumours.