Comprehensive cytogenetic study of primary cutaneous gamma-delta T-cell lymphoma by means of spectral karyotyping and genome-wide single nucleotide polymorphism array

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• 作者：Mio Yamamoto-Sugitani ; Junya Kuroda ; Yuji Shimura ; Hisao Nagoshi ; Yoshiaki Chinen ; Muneo Ohshiro ; Shinsuke Mizutani ; Miki Kiyota ; Ryuko Nakayama ; Tsutomu Kobayashi ; Hitoji Uchiyama ; Yosuke Matsumoto ; Shigeo Horiike ; Masafumi Taniwaki
• 关键词：Genome-wide single nucleotide polymorphism analysis ; primary cutaneous gamma-delta T-cell lymphoma ; spectral karyotyping
• 刊名：Cancer Genetics
• 出版年：2012
• 出版时间：September, 2012
• 年：2012
• 卷：205
• 期：9
• 页码：459-464
• 全文大小：431 K

文摘

Primary cutaneous gamma-delta T-cell lymphoma (PCGD-TCL), which originates from activated mature gamma-delta T cells with a cytotoxic phenotype is a rare T-cell lymphoproliferative disease. The prognosis of PCGD-TCL has been rather unfavorable due to poor response to conventional chemotherapy, and its molecular features and pathophysiology underlying disease development remain unknown. We report here a case with primarily treatment-resistant PCGD-TCL featuring highly complex cytogenetic and genetic aberrations detected by spectral karyotyping and genome-wide single nucleotide polymorphism (SNP) array. Chromosomal aberrations included several chromosomal translocations involving breakpoints at 9p21, 14q11.2, 14q32.1, or 16q23.1, suggesting the involvement of WWOX, TCL gene cluster, and BCL11B, which are crucial for tumorigenesis in T-cell lymphomas. SNP analysis also identified genome copy number gains and losses in various regions, which can potently deregulate expression of various pro- and anti-oncogenic genes involved in RAS-related protein pathways, PI3K/AKT/MTOR-related pathways, MYC-related signaling, or TP53-related signaling. Thus, this case report may shed some light on the complex molecular abnormalities involved in the development of PCGD-TCL and on information that can aid the search for druggable target molecules in this disease.