Molecular genetic and cytogenetic analysis of a primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma

Autor: Mio Noma, Akira Morimoto, Junko Takita, Tomohei Nakao, Shigeko Iijima, Chie Kobayashi, Masahiro Tsuchida, Yuji Gunji, Hiroshi Hojo, Kazutoshi Koike, Ai Yoshimi, Yukiko Oh, Keisuke Kato
Rok vydání: 2015
Předmět:
Zdroj: International Journal of Hematology. 103:196-201
ISSN: 1865-3774
0925-5710
DOI: 10.1007/s12185-015-1895-9
Popis: We performed cytogenetic and molecular cytogenetic analyses of a primary cutaneous CD8-positive aggressive epidermotropic cytotoxic T-cell lymphoma, a rare type of primary cutaneous T-cell lymphoma. G-banded analysis at initial diagnosis and recurrence revealed complex karyotype and clonal evolution reflecting genomic instability that parallels the aggressive clinical course observed. Spectral karyotyping revealed numerous structural abnormalities. SNP array-based analysis of an initial diagnostic sample revealed numerous gains and losses of chromosomal material, including loss of short arm of the chromosome 17, to which TP53 is mapped. The molecular cytogenetics and array data of this case suggest genomic instability, particularly chromosomal instability and haploinsufficiency for TP53, the latter possibly giving rise to alteration of p14ARF-Mdm2-p53 tumor suppressor protein pathway, likely to be associated with unfavorable clinical course.
Databáze: OpenAIRE