Monocytic leukemia with CALM/AF10 rearrangement showing mediastinal emphysema.
The t(10;11)(p12-14;q14-21) is a non-random translocation that results in the fusion of CALM gene on chromosome 11 with AF10 gene on chromosome 10. This translocation is observed in acute myeloid leukemia, acute lymphoblastic leukemia, and lymphoblastic lymphoma. Here we report a patient with t(10;11) who was diagnosed with AML-M4. Reverse transcriptase-polymerase chain reaction (RT-PCR) assay revealed one type of CALM/AF10 and three types of AF10/CALM fusion transcripts. Sequencing analysis for these RT-PCR products determined the breakpoint in CALM at nucleotide (nt) 1926-1927 and in AF10 at nt 423-424. The latter breakpoint was the same as that identified in three monocytic cell lines carrying t(10;11). After achieving complete remission, the patient developed mediastinal emphysema during the course of consolidation therapy, possibly due to the necrosis of his mediastinal mass. Monocytic leukemias with CALM/AF10 fusion are frequently associated with mediastinal invasion. We need to pay special attention to such a complication, even if the chest X-ray is normal at presentation.
Nakamura
Fumihiko
F
Department of Hematology, Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu-machi, Shimotsuga-gun, Tochigi 321-0293, Japan.
Maki
Kazuhiro
K
Arai
Yukihiro
Y
Nakamura
Yuichi
Y
Mitani
Kinuko
K
D000293:Adolescent; D001483:Base Sequence; D015321:Gene Rearrangement; D006801:Humans; D007948:Leukemia, Monocytic, Acute / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008478:Mediastinal Emphysema / Q000209:etiology*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D012074:Remission Induction; D014178:Translocation, Genetic
C114359:AF10-CALM fusion protein, human; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger