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Background <p>Rosai–Dorfman–Destombes disease (RDD) is a rare form of histiocytosis, characterized by the accumulation of S100 protein-positive and CD1a-negative histiocytes with emperipolesis. Recently, oncogenic mutations in mitogen-activated protein kinase pathway genes were reported in nearly half of RDD patients. </p> Methods <p>We conducted a nationwide retrospective survey of childhood RDD in Japan.</p> Results <p>We found nine patients (five boys and four girls) with a median age at diagnosis of 8 years and 3 months (range, 9 months to 15 years 5 months). Two patients had nodal lesions only, three had extra-nodal lesions only, and four had both. PD-L1 was expressed in all cases. Two were resolved without treatment. Three were treated with prednisolone, one with surgery and radiation, and three with chemotherapy. Two were complicated by glomerulonephritis. Somatic pathogenic mutations in the kinase pathway genes were found in five of the six patients analyzed (three in MAP2K1, one in KRAS, and one in TSC1). Two chemotherapy-resistant patients with MAP2K1 mutations responded to trametinib. Within a median follow-up of 4 years and 9 months, two died of disease.</p> Conclusion <p>Most children with RDD carry mutations in the kinase pathway genes. Mutation analysis is suggested for patients with refractory disease.</p>

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Retrospective nationwide survey of pediatric RDD in Japan: a high prevalence of mutations in the kinase pathway genes

  • 期刊论文

  • 发表日期：

    2025年3月10日

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  • Takeshi Asano,
  • Akira Morimoto,
  • Atsuko Nakazawa,
  • Takahiro Ueda,
  • Chitose Ogawa,
  • Naoki Sakata,
  • Keisuke Sugimoto,
  • Jotaro On,
  • Yoshiyuki Takahashi,
  • Naoki Otsuki,
  • Yuichi Taneyama,
  • Nobuyuki Hyakuna,
  • Takashi Ishihara,
  • Akihiko Matsumine,
  • Yoko Shioda,
  • Kenichi Sakamoto,
  • Yozo Nakazawa,
  • Takahiro Yasumi,
  • Takehiko Doi,
  • Yuhki Koga

摘要

Background

Rosai–Dorfman–Destombes disease (RDD) is a rare form of histiocytosis, characterized by the accumulation of S100 protein-positive and CD1a-negative histiocytes with emperipolesis. Recently, oncogenic mutations in mitogen-activated protein kinase pathway genes were reported in nearly half of RDD patients.

Methods

We conducted a nationwide retrospective survey of childhood RDD in Japan.

Results

We found nine patients (five boys and four girls) with a median age at diagnosis of 8 years and 3 months (range, 9 months to 15 years 5 months). Two patients had nodal lesions only, three had extra-nodal lesions only, and four had both. PD-L1 was expressed in all cases. Two were resolved without treatment. Three were treated with prednisolone, one with surgery and radiation, and three with chemotherapy. Two were complicated by glomerulonephritis. Somatic pathogenic mutations in the kinase pathway genes were found in five of the six patients analyzed (three in MAP2K1, one in KRAS, and one in TSC1). Two chemotherapy-resistant patients with MAP2K1 mutations responded to trametinib. Within a median follow-up of 4 years and 9 months, two died of disease.

Conclusion

Most children with RDD carry mutations in the kinase pathway genes. Mutation analysis is suggested for patients with refractory disease.