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

• Published in: Leukemia research reports Vol. 5; no. C; pp. 14 - 17
• Main Authors: Amaki, Jun, Matsushita, Hiromichi, Kitamura, Yuka, Nagao, Ryoko, Murayama, Hiromichi, Kojima, Minoru, Ando, Kiyoshi
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ltd 2016; Elsevier
• Subjects: dert(q11.2p13); Hematology, Oncology and Palliative Medicine; MPAL; Pathology; PAX5; MPAL; dert(q11.2p13); PAX5
• ISSN: 2213-0489; 2213-0489
• DOI: 10.1016/j.lrr.2016.04.001

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.