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- Title
Identification of a Cryptic Insertion ins(11;X) (q23;q28q12) Resulting in a KMT2A - FLNA Fusion in a 13-Month-Old Child with Acute Myelomonocytic Leukemia.
- Authors
Lentes, Jana; Thomay, Kathrin; Schneider, Dominik T.; Bernbeck, Benedikt; Reinhardt, Dirk; Marschalek, Rolf; Meyer, Claus; Schlegelberger, Brigitte; Göhring, Gudrun
- Abstract
In pediatric acute myeloid leukemia (AML), chromosomal abnormalities leading to a disruption of the lysine methyltransferase 2A (KMT2A) gene in 11q23 are the most frequent rearrangements. Here, we report on the identification of a novel cryptic insertion, ins(11;X)(q23;q28q12), resulting in a translocation of the KMT2A gene in 11q23, leading to a KMT2A-FLNA fusion in a 13-month-old boy with de novo acute myelomonocytic leukemia, who died 38 days after diagnosis. The patient presented a complex karyotype 48 ~ 49,Y, del(X)(q12),+del(X)(q12),+8,ins(11;X)(q23; q28q12),+19. The identified fusion gene was predicted to be out-of-frame (fusion of portions of KMT2A exon 11 with FLNA exon 11). However, RT-PCR experiments demonstrated that a potentially functional transcript was generated by alternative splicing where KMT2A exon 10 was spliced in-frame to the truncated FLNA exon 11. This case report helps to better understand the rare but potentially severe impact of KMT2AFLNA fusions in infants with AML to improve prognostic stratification of therapy and clinical management.
- Subjects
MYELOID leukemia; LEUKEMIA treatment; MYELOID leukemia genetics; CHROMOSOME abnormalities; PEDIATRIC diagnosis; GENE fusion; REVERSE transcriptase polymerase chain reaction; GENETICS
- Publication
Cytogenetic & Genome Research, 2017, Vol 150, Issue 3/4, p281
- ISSN
1424-8581
- Publication type
Article
- DOI
10.1159/000458165