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<p>Constitutional methylation of the <i>MLH1</i> promoter is a rare cause of Lynch Syndrome likely to be overlooked in daily clinical practice, as <i>MLH1</i> methylation is common in sporadic tumors. We present four unrelated Danish and Australian patients with Lynch syndrome phenotypes and constitutional <i>MLH1</i> methylation including two patients with methylation levels indicating mosaicism. The clinical features, immunohistochemistry, <i>MLH1</i> promoter methylation status and genomic analysis of probands and family members are presented. The patients varied greatly in their clinical presentation and included multiple tumors, and a breast cancer and a dermal lipofibroma, tumors not classically related to Lynch syndrome. However, these patients are difficult to distinguish from other Lynch patients based on the clinical presentation. Awareness of this rare phenomenon and systematic testing of potential carriers is paramount to detect this condition and crucial to estimate the risk of cancer and optimize care for patients and their families.</p>

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Constitutional methylation of the MLH1 promoter: a case series including tumors not typically caused by Lynch Syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月3日

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  • Lise Graversen,
  • Jannie Assenholt,
  • Inge Søkilde Pedersen,
  • Malene Pontoppidan Stoico,
  • Henrik Hager,
  • Charlotte Lautrup,
  • Marianne Geilswijk,
  • Daniel D. Buchanan,
  • Finlay A. Macrae,
  • Ingrid M. Winship,
  • Mette Christiansen,
  • Annabeth Høgh Petersen,
  • Allan Højland,
  • Lone Sunde

摘要

Constitutional methylation of the MLH1 promoter is a rare cause of Lynch Syndrome likely to be overlooked in daily clinical practice, as MLH1 methylation is common in sporadic tumors. We present four unrelated Danish and Australian patients with Lynch syndrome phenotypes and constitutional MLH1 methylation including two patients with methylation levels indicating mosaicism. The clinical features, immunohistochemistry, MLH1 promoter methylation status and genomic analysis of probands and family members are presented. The patients varied greatly in their clinical presentation and included multiple tumors, and a breast cancer and a dermal lipofibroma, tumors not classically related to Lynch syndrome. However, these patients are difficult to distinguish from other Lynch patients based on the clinical presentation. Awareness of this rare phenomenon and systematic testing of potential carriers is paramount to detect this condition and crucial to estimate the risk of cancer and optimize care for patients and their families.