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Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities.
Cytogenet Genome Res 2016; 149(3):165-170CG

Abstract

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+CD10-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 myeloperoxidase, 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.

Authors+Show Affiliations

Division of Medical Oncology/Hematology, Department of Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

27607436

Citation

Yamamoto, Katsuya, et al. "Mixed Phenotype Acute Leukemia With t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities." Cytogenetic and Genome Research, vol. 149, no. 3, 2016, pp. 165-170.
Yamamoto K, Kawamoto S, Mizutani Y, et al. Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities. Cytogenet Genome Res. 2016;149(3):165-170.
Yamamoto, K., Kawamoto, S., Mizutani, Y., Yakushijin, K., Yamashita, T., Nakamachi, Y., ... Minami, H. (2016). Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities. Cytogenetic and Genome Research, 149(3), pp. 165-170.
Yamamoto K, et al. Mixed Phenotype Acute Leukemia With t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities. Cytogenet Genome Res. 2016;149(3):165-170. PubMed PMID: 27607436.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities. AU - Yamamoto,Katsuya, AU - Kawamoto,Shinichiro, AU - Mizutani,Yu, AU - Yakushijin,Kimikazu, AU - Yamashita,Tomoe, AU - Nakamachi,Yuji, AU - Kawano,Seiji, AU - Hayashi,Yoshitake, AU - Matsuoka,Hiroshi, AU - Minami,Hironobu, Y1 - 2016/09/09/ PY - 2016/04/20/accepted PY - 2016/11/3/pubmed PY - 2017/1/17/medline PY - 2016/9/9/entrez SP - 165 EP - 170 JF - Cytogenetic and genome research JO - Cytogenet. Genome Res. VL - 149 IS - 3 N2 - 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+CD10-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 myeloperoxidase, 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. SN - 1424-859X UR - https://www.unboundmedicine.com/medline/citation/27607436/Mixed_Phenotype_Acute_Leukemia_with_t_12/TAF15_ZNF384_and_Other_Chromosome_Abnormalities_ L2 - https://www.karger.com?DOI=10.1159/000448447 DB - PRIME DP - Unbound Medicine ER -