K.T. and M.E.I. contributed equally to this study.
CLTC-ALK fusion as a primary event in congenital blastic plasmacytoid dendritic cell neoplasm
Article first published online: 21 OCT 2013
Copyright © 2013 Wiley Periodicals, Inc.
Genes, Chromosomes and Cancer
Volume 53, Issue 1, pages 78–89, January 2014
How to Cite
Tokuda, K., Eguchi-Ishimae, M., Yagi, C., Kawabe, M., Moritani, K., Niiya, T., Tauchi, H., Ishii, E. and Eguchi, M. (2014), CLTC-ALK fusion as a primary event in congenital blastic plasmacytoid dendritic cell neoplasm. Genes Chromosom. Cancer, 53: 78–89. doi: 10.1002/gcc.22119
Supported by: The Japan Children's Cancer Association; a Grant-in-Aid for Scientific Research; a Grant-in-Aid for Cancer Research from the Ministry of Health and Labor of Japan.
- Issue published online: 18 NOV 2013
- Article first published online: 21 OCT 2013
- Manuscript Accepted: 26 SEP 2013
- Manuscript Received: 27 AUG 2013
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a subtype of acute myeloid leukemia, affecting mainly the elderly. It is thought to be derived from plasmacytoid dendritic cell precursors, which frequently present as cutaneous lesions. We have made a detailed analysis of an infant with BPDCN, who manifested with hemophagocytic lymphohistiocytosis. The peripheral blood leukocytes revealed the t(2;17;8)(p23;q23;p23) translocation and a CLTC-ALK fusion gene, which have never been reported in BPDCN or in any myeloid malignancies thus far. Neonatal blood spots on the patient's Guthrie card were analyzed for the presence of the CLTC-ALK fusion gene, identifying the in utero origin of the leukemic cell. Although the leukemic cells were positive for CD4, CD56, CD123, and CD303, indicating a plasmacytoid dendritic cell phenotype, detailed analysis of the lineage distribution of CLTC-ALK revealed that part of monocytes, neutrophils, and T cells possessed the fusion gene and were involved in the leukemic clone. These results indicated that leukemic cells with CLTC-ALK originated in a multipotent hematopoietic progenitor in utero. This is the first report of the CLTC-ALK fusion gene being associated with a myeloid malignancy, which may give us an important clue to the origin of this rare neoplasm. © 2013 Wiley Periodicals, Inc.