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J Pediatr Hematol Oncol. 2020 Mar 3. doi: 10.1097/MPH.0000000000001772. [Epub ahead of print]

The Application of Next-generation Sequencing Tumor Molecular Profiling in the Diagnosis and Management of a Case of Acute Myelogenous Leukemia With MLL-PTD (Partial Tandem Duplication) in a Pediatric Heart Transplant Recipient.

Author information

1
Division of Pediatric Hematology-Oncology, St. Joseph's Children's Hospital, Paterson, NJ.
2
Division of Pediatric Hematology-Oncology, University of California, San Diego/Rady Children's Hospital San Diego, San Diego, CA.
3
Foundation Medicine, Cambridge, MA.

Abstract

A 6-year-old girl with a history of heart transplantation was diagnosed with myelodysplastic syndrome, which progressed to acute myelogenous leukemia. Comprehensive genomic profiling of her tumor discovered an MLL-PTD (partial tandem duplication) and she received chemotherapy and a hematopoietic stem cell transplant (HSCT). She subsequently relapsed and tumor molecular profiling was repeated, revealing 2 new potentially targetable mutations (FLT3 and IDH2). A novel treatment regimen targeting these mutations with sorafenib and azacitidine without using cytotoxic chemotherapy produced remission and she subsequently pursued a second HSCT. She remains disease-free 17 months after HSCT. This case report demonstrates how repeated tumor molecular profiling provided novel actionable information for the diagnosis and management at 2 timepoints.

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