Congenital B-lymphoblastic leukemia with a cryptic MLL rearrangement and post-treatment evolution to mixed phenotype acute leukemia

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• 作者：Elizabeth Moschiano^a ; Gordana Raca^b ; Cecilia Fu^c ; Paul K. Pattengale^b ; Mathew J. Oberley^b ; ^{moberley@chla.usc.edu}
• 关键词：Congenital leukemia ; MLL rearrangement ; Lineage switch ; MPAL
• 刊名：Leukemia Research Reports
• 出版年：2016
• 出版时间：2016
• 年：2016
• 卷：6
• 期：Complete
• 页码：29-32
• 全文大小：1733 K
• 卷排序：6

文摘

Congenital leukemia is a rare event with a poor prognosis. We report a case of congenital leukemia with a cryptic rearrangement of MLL demonstrable only with RT-PCR. Interestingly, with treatment, the patient showed lineage plasticity of the leukemia with the development of monocytic lineage blasts after presenting with B-cell lineage blasts. This was heralded by the development of a new clonal cytogenetic abnormality. This case highlights the primitive nature of the leukemic cells in congenital leukemia, and emphasizes that RT-PCR for MLL rearrangements may identify a subset of cases which are otherwise negative by karyotyping, FISH, and chromosomal microarrays.