Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.

Onishi, Shumpei; Yamasaki, Fumiyuki; Kuraoka, Kazuya; Taguchi, Akira; Takayasu, Takeshi; Akagi, Kiwamu; Hinoi, Takao

Onishi, Shumpei; Yamasaki, Fumiyuki; Kuraoka, Kazuya; Taguchi, Akira; Takayasu, Takeshi; Akagi, Kiwamu; Hinoi, Takao.

Afiliación

Onishi S; Department of Neurosurgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Yamasaki F; Department of Neurosurgery, Kure Medical Center and Chugoku Cancer Center, National Hospital Organization, Hiroshima, Japan.
Kuraoka K; Department of Neurosurgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Taguchi A; Department of Diagnostic Pathology, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan.
Takayasu T; Department of Neurosurgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Akagi K; Department of Neurosurgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Hinoi T; Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.

BMC Med Genomics ; 16(1): 6, 2023 01 16.

Article en En | MEDLINE | ID: mdl-36647049

Asunto(s)

Neoplasias Encefálicas; Neoplasias Colorrectales; Glioblastoma; Masculino; Niño; Femenino; Humanos; Glioblastoma/diagnóstico; Glioblastoma/genética; Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto/genética; Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto/metabolismo; Células Endoteliales/metabolismo; Enzimas Reparadoras del ADN/genética; Enzimas Reparadoras del ADN/metabolismo; Enzimas Reparadoras del ADN/uso terapéutico; Neoplasias Encefálicas/diagnóstico; Neoplasias Encefálicas/genética; Neoplasias Encefálicas/metabolismo; Neoplasias Colorrectales/genética

Palabras clave

Acute lymphocytic leukemia; CMMRD; Colon cancer; Constitutional mismatch repair deficiency; Genetic testing; Glioblastoma; Immune-checkpoint inhibitor; Large deletion; Lynch syndrome; PMS2

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Neoplasias Encefálicas / Neoplasias Colorrectales / Glioblastoma Tipo de estudio: Diagnostic_studies Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article

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