Distinct, Ethnic, Clinical, and Genetic Characteristics of Myelodysplastic Syndromes with Der(1;7)

• Published in: Blood 2019-11, Vol.134 (Supplement_1), p.5392-5392
• Main Authors: Okuda, Rurika, Makishima, Hideki, Nannya, Yasuhito, Ochi, Yotaro, Yoshizato, Tetsuichi, Nagata, Yasunobu, Yoshida, Kenichi, Sanada, Masashi, Takeda, June, Saiki, Ryunosuke, Shiraishi, Yuichi, Miyano, Satoru, Kern, Wolfgang, Baer, Constance, Nadarajah, Niroshan, Haferlach, Claudia, Atsuta, Yoshiko, Kasahara, Senji, Handa, Hiroshi, Chiba, Shigeru, Haferlach, Torsten, Ogawa, Seishi
• Format: Article
• Language: English
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood-2019-129943

der(1;7)(q10;p10) is a recurrent chromosomal abnormality found in a wide variety of myeloid neoplasms observed in as high as 6% of myelodysplastic syndromes (MDS) in Asian populations, while rarely observed in Caucasian populations. It is thought to be generated by a recombination between two highly homologous centromere alphoid sequences which lead to an unbalanced abnormality of monosomy of 7q and trisomy of 1q. However, despite the presence of -7q, der(1;7) has been associated with a better prognosis compared to monosomy 7 or other del(7q) (-7/del(7q)). In addition to its association with +8 and del(20q), frequent RUNX1 mutations and a paucity of mutated TP53 have been reported in der(1;7) tumors, but otherwise, the molecular features of this abnormality have been poorly characterized in the literature. This is most likely because it is very rare in Caucasians, even though it represents one of the most prevalent lesions among Asian populations. The purpose of our study is to clarify the frequency and mutational landscape of der(1;7) in myeloid neoplasms on the basis of targeted-capture sequencing. A total of 1,707 MDS cases, including 944 German and 763 Japanese cases, were enrolled, from which we identified 73 (4.0%) cases with der(1;7). The prevalence was >20 times higher in Japanese (9.0%) than German (0.43%) cohorts (p