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Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders
- Source :
- Oncotarget
- Publication Year :
- 2016
- Publisher :
- Columbia University, 2016.
-
Abstract
- Post-transplant lymphoproliferative disorders of T- or NK-cell origin (T/NK-PTLD) are rare entities and their genetic basis is unclear. We performed targeted sequencing of 465 cancer-related genes and high-resolution copy number analysis in 17 T-PTLD and 2 NK-PTLD cases. Overall, 377 variants were detected, with an average of 20 variants per case. Mutations of epigenetic modifier genes (TET2, KMT2C, KMT2D, DNMT3A, ARID1B, ARID2, KDM6B, n=11). and inactivation of TP53 by mutation and/ or deletion (n=6) were the most frequent alterations, seen across disease subtypes, followed by mutations of JAK/STAT pathway genes (n=5). Novel variants, including mutations in TBX3 (n=3), MED12 (n=3) and MTOR (n=1), were observed as well. High-level microsatellite instability was seen in 1 of 14 (7%) cases, which had a heterozygous PMS2 mutation. Complex copy number changes were detected in 8 of 16 (50%) cases and disease subtype-specific aberrations were also identified. In contrast to B-cell PTLDs, the molecular and genomic alterations observed in T/ NK-PTLD appear similar to those reported for peripheral T-cell lymphomas occurring in immunocompetent hosts, which may suggest common genetic mechanisms of lymphoma development.
- Subjects :
- Adult
Male
0301 basic medicine
Lymphoproliferative disorders
T-Lymphocytes
Killer cells
Copy number analysis
T cells
Biology
medicine.disease_cause
genomic
03 medical and health sciences
0302 clinical medicine
medicine
PMS2
Genetics
Humans
T-cell lymphoma
Immunodeficiency
Gene
Aged
Aged, 80 and over
Mutation
Microsatellite instability
Genomics
Middle Aged
medicine.disease
Lymphoma
Killer Cells, Natural
030104 developmental biology
Oncology
030220 oncology & carcinogenesis
FOS: Biological sciences
Female
genetic
post-transplant lymphoproliferative disorders
Research Paper
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Oncotarget
- Accession number :
- edsair.doi.dedup.....64d75689680b79205b876ff06025fcb5
- Full Text :
- https://doi.org/10.7916/d8-v4kz-6466