title: Necessary stem cell transplantation using myeloablative therapy for myelodysplastic syndrome with progression of genotypic abnormalities and TP53 dysfunction in a young adult.
abstract: A 14-yr-old male was admitted to our hospital with MDS and the chromosomal abnormality 45,XY,der(5;17)(p10;q10). He rapidly developed karyotype abnormalities, accompanied by the loss of tumor suppressor gene TP53 function. He suffered an early relapse after reduced-intensity-conditioning SCT and ultimately required myeloablative therapy before a second SCT. We consider that the analysis of TP53 mutations is essential when planning the treatment of patients with MDS.
authors.affiliation: Department of Pediatrics, Dokkyo Medical University, Mibu, Tochigi, Japan.
authors.forename: Yuya
authors.initials: Y
authors.lastname: Sato
authors.forename: Hidemitsu
authors.initials: H
authors.lastname: Kurosawa
authors.forename: Keitaro
authors.initials: K
authors.lastname: Fukushima
authors.forename: Mayuko
authors.initials: M
authors.lastname: Okuya
authors.forename: Hiromasa
authors.initials: H
authors.lastname: Yabe
authors.forename: Osamu
authors.initials: O
authors.lastname: Arisaka
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations; D018450:Disease Progression; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation; D019653:Myeloablative Agonists / Q000627:therapeutic use*; D009190:Myelodysplastic Syndromes / Q000235:genetics / Q000628:therapy*; D011379:Prognosis; D012307:Risk Factors; D033581:Stem Cell Transplantation; D016159:Tumor Suppressor Protein p53 / Q000378:metabolism
chemical_list: D019653:Myeloablative Agonists; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53
keywords: TP53; chromosomal abnormality; myeloablative therapy; myelodysplastic syndrome