Poster Display Malignancy and PID

NEXT GENERATION DIAGNOSTICS TO IDENTIFY THE RELATIONSHIP OF SEVERE COMBINED IMMUNODEFICIENCY TO MALIGNANCY VIA MULTIGENE PANELS

Lecture Time
10:11 - 10:12
Presenter
  • Atil Bisgin, Turkey
Room
Poster Area
Date
20.09.2019, Friday
Session Time
10:00 - 17:00
Board Number
12
Presentation Topic
Malignancy and PID

Abstract

Background and Aims

Patients with immunodeficiencies especially the severe-combined(SCID) and common-variable(CVID) types have an increased risk of developing malignancy due to a defective immunity towards cancer cells. Thus, we herein report the importance of targeted multigene panels via next-generation sequencing(NGS) via cases based review to clarify the genetic background of susceptibility to neoplasms and SCID diagnosis.

Methods

The major focus of this study is on malignancies that develop in SCID patients whom the customized multigene panel testing (QiaSeq, Qiagen) including ABL1, ASXL1, ATRX, BCOR, BCORL1, CBL, CBLB, DAXX, DNMT3A, EED, ETV6, EZH2, FLT3, GATA1, GNAS, IDH1, IDH2, IKZF1, JAK1, JAK2, JAK3, KAT6A, KIT, KMT2A, KRAS, MPL, NF1, NPM1, NRAS, PHF6, PRPF40B, PTPN11, RAD21, RB1, RUNX1, SETBP1, SF1, SF3A1, SF3B1, SH2B3, SMC1A, SMC3, STAG2, SUZ12, TET2, TP53, U2AF1, U2AF2, WT1 and ZRSR2 genes related to myeloid and lymphoid malignancies was performed via NGS (MiSeq Platform, İllumina).

Results

Bioinformatic analysis were performed using QCI-Analyze and QCI-Interpret tools. The data was then reviewed on alterations and those reported in different variant/mutation databases. The clinically relevant alterations were classified due to ACMG criteria. Overall, pathogenic/likely-pathogenic variants in DAXX, ABL1, ZRSR2, NF1 and JAK1 genes were detected due to databases or in-silico analysis.

Conclusions

In most PIDs when the molecular defect is known, the molecular mechanism leading to malignancy can be determined by NGS technologies. It seems, however that diagnosing the SCID patients with NGS multigene panels resulting the treatment strategies effectively, also using more targeted multigene panels influence both the lifespan of these patients and the treatments might have changed.

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