Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities

作者：Yamamoto Katsuya^*; Kawamoto Shinichiro; Mizutani Yu; Yakushijin Kinnikazu; Yamashita Tonnoe; Nakannachi Yuji; Kawano Seiji; Hayashi Yoshitake; Matsuoka Hiroshi; Minami Hironobu

来源：Cytogenetic and Genome Research, 2016, 149(3): 165-170.

DOI：10.1159/000448447

• Mixed phenotype acute leukemia
• TAF15
• Trisomy 1q
• Unbalanced whole-arm translocation
• ZNF384

The t(12;17)(p13;q11-21) translocation is a very rare but recurrent cytogenetic aberration observed predominantly in early pre-B acute lymphoblastic leukemia (ALL) with CD19+CD1O-CD33+ phenotype. This translocation was shown to form a fusion gene between TAF15 at 17q12 and ZNF384 at 12p13. On the other hand, der(1;18)(q10;q10) has been detected as a rare unbalanced whole-arm translocation leading to trisomy 1q in myeloid malignancies. We describe here the first case of mixed phenotype acute leukemia (MPAL) with a t(12;17)(p13;q21)/TAF15-ZNF384, which also had der(1;18)(q10;q10) as an additional abnormality. A 74-year-old woman was diagnosed with MPAL, B/myeloid, because bone marrow blasts were positive for nnyeloperoxidase, CD19, and CD22, Chromosome analysis showed 46,XX, +1,der(1;18)(q10;q10),t(2;16)(q13;q13),t(12;17)(p13;q21). Expression of the TAF15-ZNF384 fusion transcript was confirmed: TAF15 exon 6 was fused in-frame to ZNF384 exon 3. This type of fusion gene has been reported in 1 acute myeloid leukemia case and 3 ALL cases, Thus, at present, it is difficult to find a specific association between the structure of the TAF15-ZNF384 fusion gene and the leukemia phenotype. The TAF15-ZNF384 fusion may occur in early common progenitor cells that could differentiate into both the myeloid and lymphoid lineages. Furthermore, der(1;18) (q10;q10) might play some role in the appearance of an additional myeloid phenotype.

• 出版日期2016