Open AccessPAX5 alterations in an infant case of KMT2A ‐rearranged leukemia with lineage switch
Author(s) -
Nakajima Koji,
Kubota Hirohito,
Kato Itaru,
Isobe Kiyotaka,
Ueno Hiroo,
Kozuki Kagehiro,
Tanaka Kuniaki,
Kawabata Naoko,
Mikami Takashi,
Tamefusa Kosuke,
Nishiuchi Ritsuo,
Saida Satoshi,
Umeda Katsutsugu,
Hiramatsu Hidefumi,
Adachi Souichi,
Takita Junko
Publication year - 2022
Publication title -
cancer science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.035
H-Index - 141
eISSN - 1349-7006
pISSN - 1347-9032
DOI - 10.1111/cas.15380
Subject(s) - leukemia , lineage (genetic) , medicine , acute lymphocytic leukemia , bone marrow , acute leukemia , cancer research , immunology , biology , lymphoblastic leukemia , genetics , gene
Lineage switch is a rare event at leukemic relapse. While mostly known to occur in KMT2A ‐rearranged infant leukemia, the underlying mechanism is yet to be depicted. This case report describes a female infant who achieved remission of KMT2A ‐ MLLT3 ‐rearranged acute monocytic leukemia, but 6 months thereafter, relapsed as KMT2A ‐ MLLT3 ‐rearranged acute lymphocytic leukemia. Whole exome sequencing of the bone marrow obtained pre‐post lineage switch revealed two somatic mutations of PAX5 in the relapse sample. These two PAX5 alterations were suggested to be loss of function, thus to have played the driver role in the lineage switch from acute monocytic leukemia to acute lymphocytic leukemia.