Nodular lymphocyte-predominant hodgkin lymphoma in a 15-year-old boy with li-fraumeni syndrome having a germline TP53 D49H mutation

研究成果: Article

抄録

Germline mutations in TP53 are the primary cause of Li-Fraumeni syndrome (LFS). Most mutations are reported within the DNA-binding domain. We report a case of a 15-year-old boy with LFS who developed early-stage nodular lymphocyte-predominant Hodgkin lymphoma, a rare subtype of Hodgkin lymphomas. His sister was diagnosed with embryonal rhabdomyosarcoma at the age of 1.5 years. Sequence analysis revealed a germline mutation in the transactivation domain of TP53, c.145G>C (p.D49H), in the patient, his sister, and father. One family with LFS with a germline TP53 D49H mutation has previously been reported. This report supports the pathogenicity of this mutation.

元の言語English
ページ(範囲)e195-e197
ジャーナルJournal of Pediatric Hematology/Oncology
40
発行部数3
DOI
出版物ステータスPublished - 2018 1 1

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Li-Fraumeni Syndrome
Hodgkin Disease
Germ-Line Mutation
Mutation
Siblings
Embryonal Rhabdomyosarcoma
Fathers
Transcriptional Activation
Sequence Analysis
Virulence
DNA

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

これを引用

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title = "Nodular lymphocyte-predominant hodgkin lymphoma in a 15-year-old boy with li-fraumeni syndrome having a germline TP53 D49H mutation",
abstract = "Germline mutations in TP53 are the primary cause of Li-Fraumeni syndrome (LFS). Most mutations are reported within the DNA-binding domain. We report a case of a 15-year-old boy with LFS who developed early-stage nodular lymphocyte-predominant Hodgkin lymphoma, a rare subtype of Hodgkin lymphomas. His sister was diagnosed with embryonal rhabdomyosarcoma at the age of 1.5 years. Sequence analysis revealed a germline mutation in the transactivation domain of TP53, c.145G>C (p.D49H), in the patient, his sister, and father. One family with LFS with a germline TP53 D49H mutation has previously been reported. This report supports the pathogenicity of this mutation.",
keywords = "Li-Fraumeni syndrome, nodular lymphocyte-predominant Hodgkin lymphoma, rituximab",
author = "Fumito Yamazaki and Haruko Shima and Tomoo Osumi and Satoshi Narumi and Tatsuo Kuroda and Hiroyuki Shimada",
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T1 - Nodular lymphocyte-predominant hodgkin lymphoma in a 15-year-old boy with li-fraumeni syndrome having a germline TP53 D49H mutation

AU - Yamazaki, Fumito

AU - Shima, Haruko

AU - Osumi, Tomoo

AU - Narumi, Satoshi

AU - Kuroda, Tatsuo

AU - Shimada, Hiroyuki

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Germline mutations in TP53 are the primary cause of Li-Fraumeni syndrome (LFS). Most mutations are reported within the DNA-binding domain. We report a case of a 15-year-old boy with LFS who developed early-stage nodular lymphocyte-predominant Hodgkin lymphoma, a rare subtype of Hodgkin lymphomas. His sister was diagnosed with embryonal rhabdomyosarcoma at the age of 1.5 years. Sequence analysis revealed a germline mutation in the transactivation domain of TP53, c.145G>C (p.D49H), in the patient, his sister, and father. One family with LFS with a germline TP53 D49H mutation has previously been reported. This report supports the pathogenicity of this mutation.

AB - Germline mutations in TP53 are the primary cause of Li-Fraumeni syndrome (LFS). Most mutations are reported within the DNA-binding domain. We report a case of a 15-year-old boy with LFS who developed early-stage nodular lymphocyte-predominant Hodgkin lymphoma, a rare subtype of Hodgkin lymphomas. His sister was diagnosed with embryonal rhabdomyosarcoma at the age of 1.5 years. Sequence analysis revealed a germline mutation in the transactivation domain of TP53, c.145G>C (p.D49H), in the patient, his sister, and father. One family with LFS with a germline TP53 D49H mutation has previously been reported. This report supports the pathogenicity of this mutation.

KW - Li-Fraumeni syndrome

KW - nodular lymphocyte-predominant Hodgkin lymphoma

KW - rituximab

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