Evidence map›Paper›PMID 40063331›Full record

ArticleInternational journal of hematology2025

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

Takeshi Asano, Akira Morimoto, Atsuko Nakazawa, Takahiro Ueda, Chitose Ogawa, Naoki Sakata, Keisuke Sugimoto, Jotaro On, Yoshiyuki Takahashi, Naoki Otsuki and 11 more

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Article in International journal of hematology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

21 authors.

Takeshi AsanoDepartment of Pediatrics, Nippon Medical School, Chiba Hokusoh Hospital, Inzai, Japan.
Akira MorimotoDivision of Pediatrics, Showa Inan General Hospital, 3230 Akaho, Komagane, Nagano, 399-4117, Japan. akira@jichi.ac.jp.ORCID http://orcid.org/0000-0002-9168-5409
Atsuko NakazawaDepartment of Clinical Research, Saitama Children's Medical Center, Saitama, Japan.
Takahiro UedaDepartment of Pediatrics, Nippon Medical School Hospital, Tokyo, Japan.
Chitose OgawaDepartment of Pediatric Oncology, National Cancer Center Hospital, Tokyo, Japan.
Naoki SakataDepartment of Pediatrics, Faculty of Medicine, Kindai University, Osaka-Sayama, Japan.
Keisuke SugimotoDepartment of Pediatrics, Faculty of Medicine, Kindai University, Osaka-Sayama, Japan.
Jotaro OnDepartment of Neurosurgery, Brain Research Institute, Niigata University, Niigata, Japan.
Yoshiyuki TakahashiDepartment of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Naoki OtsukiDepartment of Otolaryngology, Head and Neck Surgery, Faculty of Medicine, Kindai University, Osaka-Sayama, Japan.
Yuichi TaneyamaDepartment of Hematology/Oncology, Chiba Children'S Hospital, Chiba, Japan.
Nobuyuki HyakunaDepartment of Pediatrics, University of the Ryukyus Hospital, Nishihara, Japan.
Takashi IshiharaDepartment of Pediatrics, Nara Medical University, Kashihara, Japan.
Akihiko MatsumineDepartment of Orthopaedics and Rehabilitation Medicine, University of Fukui, Fukui, Japan.
Yoko ShiodaChildren'S Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
Kenichi SakamotoDepartment of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Yozo NakazawaDepartment of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Takahiro YasumiDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Takehiko DoiDepartment of Pediatrics, Graduate School of Biomedical and Health Science, Hiroshima University, Hiroshima, Japan.
Yuhki KogaDepartment of Pediatrics, National Hospital Organization Kyushu Cancer Center, Fukuoka, Japan.
Histiocytosis Study Group of the Japanese Society of Pediatric Hematology/Oncology

Funding

Japan Agency for Medical Research and Development JP20ck0106605Japan Agency for Medical Research and Development JP23ck0106852
6 · The paper itself

Abstract

backgroundRosai-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.

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

resultsWe 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.

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

Indexed as

Histiocytosis, SinusMAP Kinase Signaling SystemAdolescentChildChild, PreschoolFemaleHumansInfantJapanMaleMutationRetrospective StudiesTreatment OutcomeMAP2K1Mitogen-activated protein kinaseRosai–Dorfman–Destombes diseaseTrametinibTSC1

Identifiers

PMID40063331

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.