[PMID]: | 27607436 |
[Au] Autor: | Yamamoto K; Kawamoto S; Mizutani Y; Yakushijin K; Yamashita T; Nakamachi Y; Kawano S; Hayashi Y; Matsuoka H; Minami H |
[Ad] Endereço: | Division of Medical Oncology/Hematology, Department of Medicine, Kobe University Graduate School of Medicine, Kobe, Japan. |
[Ti] Título: | Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities. |
[So] Source: | Cytogenet Genome Res;149(3):165-170, 2016. |
[Is] ISSN: | 1424-859X |
[Cp] País de publicação: | Switzerland |
[La] Idioma: | eng |
[Ab] Resumo: | 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. |
[Mh] Termos MeSH primário: |
Aberrações Cromossômicas Cromossomos Humanos Par 12/genética Cromossomos Humanos Par 17/genética Leucemia Aguda Bifenotípica/genética Fatores Associados à Proteína de Ligação a TATA/genética Transativadores/genética Translocação Genética/genética
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[Mh] Termos MeSH secundário: |
Adolescente Adulto Idoso Sequência de Bases Criança Pré-Escolar Bandeamento Cromossômico Éxons/genética Feminino Seres Humanos Cariótipo Masculino Proteínas de Fusão Oncogênicas/genética Fenótipo Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética Reação em Cadeia da Polimerase Via Transcriptase Reversa Trissomia/genética Adulto Jovem
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[Pt] Tipo de publicação: | CASE REPORTS; JOURNAL ARTICLE; REVIEW |
[Nm] Nome de substância:
| 0 (Oncogene Proteins, Fusion); 0 (TAF15 protein, human); 0 (TATA-Binding Protein Associated Factors); 0 (Trans-Activators); 0 (ZNF384 protein, human) |
[Em] Mês de entrada: | 1701 |
[Cu] Atualização por classe: | 170116 |
[Lr] Data última revisão:
| 170116 |
[Sb] Subgrupo de revista: | IM |
[Da] Data de entrada para processamento: | 160909 |
[St] Status: | MEDLINE |
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