How Many Tests Does It Take to Diagnose a Triple-Hit B-Lymphoblastic Lymphoma? (Hint, It's A Lot).
Marie DasKaren D TsuchiyaSandra D BohlingBilly DavisSamuel HwangRebecca A GardnerKaren M ChisholmPublished in: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (2023)
B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) is a precursor B-cell neoplasm that often harbors specific cytogenetic/molecular abnormalities with distinctive clinical, phenotypic, and prognostic characteristics. Subcategorization of B-ALL/LBL therefore requires extensive cytogenetic and/or molecular testing to determine the appropriate classification and therapeutic interventions for these patients. Herein, we present a case of a 17-year-old young woman diagnosed with B-LBL harboring not only an IGH::MYC rearrangement but also BCL2 and BCL6 rearrangements (so-called "triple-hit") and somatic biallelic TP53 inactivation. MYC rearrangements are relatively rare in B-ALL/LBL, and the identification of a "triple-hit" elicited an initial diagnostic dilemma. However, a multimodal approach allowed for the classification of this complex case and helped guide selection of an appropriate therapeutic regimen.
Keyphrases
- end stage renal disease
- machine learning
- diffuse large b cell lymphoma
- deep learning
- newly diagnosed
- ejection fraction
- transcription factor
- chronic kidney disease
- prognostic factors
- physical activity
- acute myeloid leukemia
- pain management
- single molecule
- middle aged
- gene expression
- case report
- patient reported outcomes
- copy number
- high grade