Comprehensive FISH testing using FFPE tissue microarray to screen for secondary abnormalities in mantle cell lymphoma: A retrospective study

Abstract

11 deletion, corresponding to exons 6 to 37 of ATM, was identified in both siblings. Subsequent Sanger sequencing of ATM identified a second pathogenic variant [c.9091del; p.(Gln3031Lysfs*2)]. The diagnosis was also supported by abnormal chromosome breakage studies. Clinical laboratories should have clear and consistent reporting policies when determining the significance of deletions involving genes associated with autosomal recessive conditions. This case demonstrates how phenotypic information is critical in guiding what findings should be reported and what follow up testing should be considered if a diagnosis has not been established.