The formation of an aberrant PAX5 transcript in a patient with mixed phenotype acute leukemia harboring der(9)t(7;9)(q11.2;p13)

Jun Amaki; Hiromichi Matsushita; Yuka Kitamura; Ryoko Nagao; Hiromichi Murayama; Minoru Kojima; Kiyoshi Ando

doi:10.1016/j.lrr.2016.04.001

The formation of an aberrant PAX5 transcript in a patient with mixed phenotype acute leukemia harboring der(9)t(7;9)(q11.2;p13)

Jun Amaki, Hiromichi Matsushita, Yuka Kitamura, Ryoko Nagao, Hiromichi Murayama, Minoru Kojima, Kiyoshi Ando

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Abstract

We experienced the case of a 56-year-old male with B-lymphoid/myeloid lineage mixed phenotype acute leukemia (MPAL). A cytogenetic analysis of the patient's bone marrow revealed a complex karyotype, including der(9)t(7;9)(q11.2;p13). We identified an aberrant PAX5 transcript, including the exons 1A to 5 and the contiguous intron 5/6 sequence using the 3' rapid amplification of cDNA ends-polymerase chain reaction method, and confirmed their expression in the leukemic cells. Our case suggests that der(9)t(7;9)(q11.2;p13) can cause the truncation of the PAX5 transcript, which is supposed to contribute to the generation of MPAL, in addition to three previously reported types of PAX5 fusion.

Original language	English
Pages (from-to)	14-17
Number of pages	4
Journal	Leukemia Research Reports
Volume	5
DOIs	https://doi.org/10.1016/j.lrr.2016.04.001
Publication status	Published - 2016
Externally published	Yes

Keywords

Der(9)t(79)(q11.2p13)
MPAL
PAX5

ASJC Scopus subject areas

Hematology
Oncology

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10.1016/j.lrr.2016.04.001

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title = "The formation of an aberrant PAX5 transcript in a patient with mixed phenotype acute leukemia harboring der(9)t(7;9)(q11.2;p13)",

abstract = "We experienced the case of a 56-year-old male with B-lymphoid/myeloid lineage mixed phenotype acute leukemia (MPAL). A cytogenetic analysis of the patient's bone marrow revealed a complex karyotype, including der(9)t(7;9)(q11.2;p13). We identified an aberrant PAX5 transcript, including the exons 1A to 5 and the contiguous intron 5/6 sequence using the 3' rapid amplification of cDNA ends-polymerase chain reaction method, and confirmed their expression in the leukemic cells. Our case suggests that der(9)t(7;9)(q11.2;p13) can cause the truncation of the PAX5 transcript, which is supposed to contribute to the generation of MPAL, in addition to three previously reported types of PAX5 fusion.",

keywords = "Der(9)t(79)(q11.2p13), MPAL, PAX5",

author = "Jun Amaki and Hiromichi Matsushita and Yuka Kitamura and Ryoko Nagao and Hiromichi Murayama and Minoru Kojima and Kiyoshi Ando",

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year = "2016",

doi = "10.1016/j.lrr.2016.04.001",

language = "English",

volume = "5",

pages = "14--17",

journal = "Leukemia Research Reports",

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AU - Amaki, Jun

AU - Matsushita, Hiromichi

AU - Kitamura, Yuka

AU - Nagao, Ryoko

AU - Murayama, Hiromichi

AU - Kojima, Minoru

AU - Ando, Kiyoshi

PY - 2016

Y1 - 2016

N2 - We experienced the case of a 56-year-old male with B-lymphoid/myeloid lineage mixed phenotype acute leukemia (MPAL). A cytogenetic analysis of the patient's bone marrow revealed a complex karyotype, including der(9)t(7;9)(q11.2;p13). We identified an aberrant PAX5 transcript, including the exons 1A to 5 and the contiguous intron 5/6 sequence using the 3' rapid amplification of cDNA ends-polymerase chain reaction method, and confirmed their expression in the leukemic cells. Our case suggests that der(9)t(7;9)(q11.2;p13) can cause the truncation of the PAX5 transcript, which is supposed to contribute to the generation of MPAL, in addition to three previously reported types of PAX5 fusion.

AB - We experienced the case of a 56-year-old male with B-lymphoid/myeloid lineage mixed phenotype acute leukemia (MPAL). A cytogenetic analysis of the patient's bone marrow revealed a complex karyotype, including der(9)t(7;9)(q11.2;p13). We identified an aberrant PAX5 transcript, including the exons 1A to 5 and the contiguous intron 5/6 sequence using the 3' rapid amplification of cDNA ends-polymerase chain reaction method, and confirmed their expression in the leukemic cells. Our case suggests that der(9)t(7;9)(q11.2;p13) can cause the truncation of the PAX5 transcript, which is supposed to contribute to the generation of MPAL, in addition to three previously reported types of PAX5 fusion.

KW - Der(9)t(79)(q11.2p13)

KW - MPAL

KW - PAX5

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ER -

The formation of an aberrant PAX5 transcript in a patient with mixed phenotype acute leukemia harboring der(9)t(7;9)(q11.2;p13)

Abstract

Keywords

ASJC Scopus subject areas

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