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.
authors.affiliation: Division of Hematology, Ebina General Hospital, Ebina, Kanagawa, Japan; Division of Hematology and Oncology, Department of Internal Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Amaki
authors.affiliation: Department of Laboratory Medicine, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, Japan; Research Center for Cancer Stem Cell, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Matsushita
authors.affiliation: Research Center for Cancer Stem Cell, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Kitamura
authors.affiliation: Department of Pathology, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
authors.forename: Ryoko
authors.initials: R
authors.lastname: Nagao
authors.affiliation: Division of Hematology and Oncology, Department of Internal Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Murayama
authors.affiliation: Division of Hematology, Ebina General Hospital, Ebina, Kanagawa, Japan; Division of Hematology and Oncology, Department of Internal Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
authors.forename: Minoru
authors.initials: M
authors.lastname: Kojima
authors.affiliation: Division of Hematology and Oncology, Department of Internal Medicine, Tokai University School of Medicine, Isehara, Kanagawa, Japan; Research Center for Cancer Stem Cell, Tokai University School of Medicine, Isehara, Kanagawa, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Ando
keywords: MPAL; PAX5; der(9)t(79)(q11.2p13)