scholarly journals Philadelphia-positive mixed phenotype acute leukemia presenting with PML-RARα fusion transcript without t(15;17) on cytogenetic studies

2018 ◽  
Vol 53 (3) ◽  
pp. 256 ◽  
Author(s):  
Seok Jae Huh ◽  
Sung-Hyun Kim ◽  
Hyo-Jin Kim ◽  
Jin Yeong Han ◽  
Hyeonho Lim ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Fusion Transcript ◽  
Cytogenetic Studies ◽  
Mixed Phenotype Acute Leukemia ◽  
Mixed Phenotype

scholarly journals Case Report: The Formation of a Truncated PAX5 Transcript in a Case of Ph-Positive Mixed Phenotype Acute Leukemia With dic(7;9)(p11-p13;p13)

2021 ◽  
Vol 11 ◽  
Author(s):  
Yan Yu ◽  
Zhao Zeng ◽  
Jundan Xie ◽  
Qiongyu Lu ◽  
Wenzhi Cai ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Fusion Gene ◽  
Critical Role ◽  
Fusion Transcript ◽  
Suppressor Activity ◽  
Nih3t3 Cells ◽  
Mixed Phenotype Acute Leukemia ◽  
And Function ◽  
Mixed Phenotype

PAX5 plays a critical role in B-cell precursor development and is involved in various chromosomal translocations that involve the fusion of a portion of PAX5 to at least 49 different partners reported to date. Here, we identified a novel PAX5 fusion transcript in a Ph-positive mixed phenotype acute leukemia case with dic(7;9)(q13;q13), in which a translocation juxtaposes the 5’ region of PAX5 and the ubiquitin-conjugating enzyme E2D4 (UBE2D4) to generate a PAX5-UBE2D4 fusion gene. To further explore the general characteristics and function of PAX5-UBE2D4, we cloned the full-length cDNA, which was amplified from the bone marrow of the patient. Interestingly, the fusion was located in the nucleus and negatively affected PAX5 transcription activity. Importantly, the fusion promoted tumor growth in nude mice and the proliferation of NIH3T3 cells in vitro. In conclusion, the fusion resulted in partial oncogenic activity, in contrast to the tumor suppressor activity of wild-type PAX5.

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

2016 ◽  
Vol 149 (3) ◽  
pp. 165-170 ◽  
Author(s):  
Katsuya Yamamoto ◽  
Shinichiro Kawamoto ◽  
Yu Mizutani ◽  
Kimikazu Yakushijin ◽  
Tomoe Yamashita ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Fusion Gene ◽  
Lymphoblastic Leukemia ◽  
Fusion Transcript ◽  
Chromosome Analysis ◽  
Cytogenetic Aberration ◽  
First Case ◽  
Mixed Phenotype Acute Leukemia ◽  
Specific Association ◽  
Mixed Phenotype

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.

scholarly journals Correction to: Mixed-phenotype acute leukemia characteristics: first report from Iran

2021 ◽  
Author(s):  
Behzad Poopak ◽  
Adnan Khosravi ◽  
Gholamreza Bahoush-Mehdiabadi ◽  
Tahereh Madani ◽  
Elahe Khodadi ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
First Report ◽  
Mixed Phenotype Acute Leukemia ◽  
Mixed Phenotype

scholarly journals Genomic characterization of chromosome translocations in patients with T/myeloid mixed-phenotype acute leukemia

2017 ◽  
Vol 59 (5) ◽  
pp. 1231-1238 ◽  
Author(s):  
Aparna Pallavajjala ◽  
Daehwan Kim ◽  
Tongbin Li ◽  
Gabriel Ghiaur ◽  
Richard J. Jones ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Chromosome Translocations ◽  
Mixed Phenotype Acute Leukemia ◽  
Genomic Characterization ◽  
Mixed Phenotype

scholarly journals Lineage switch from acute myeloid leukemia to T cell/myeloid mixed phenotype acute leukemia: First report of an adult case

2018 ◽  
Vol 93 (12) ◽  
pp. E395-E397 ◽  
Author(s):  
Brian P. Hanley ◽  
Eva Yebra-Fernandez ◽  
Renuka Palanicawandar ◽  
Eduardo Olavarria ◽  
Kikkeri N. Naresh
Keyword(s):  
Acute Myeloid Leukemia ◽  
T Cell ◽  
Acute Leukemia ◽  
Myeloid Leukemia ◽  
Adult Case ◽  
First Report ◽  
Lineage Switch ◽  
Mixed Phenotype Acute Leukemia ◽  
Mixed Phenotype ◽  
Acute Myeloid

scholarly journals Mixed Phenotype Acute Leukemia

2014 ◽  
Vol 142 (6) ◽  
pp. 803-808 ◽  
Author(s):  
Olga K. Weinberg ◽  
Mahesh Seetharam ◽  
Li Ren ◽  
Ash Alizadeh ◽  
Daniel A. Arber
Keyword(s):  
Acute Leukemia ◽  
Mixed Phenotype Acute Leukemia ◽  
Mixed Phenotype
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