Meeting
2023 ASCO Gastrointestinal Cancers Symposium
Concordance of genomic alterations in anal cancer by next-generation sequencing in tissue and circulating tumor DNA.
Authors
Michael Brian LaPelusa
Vanderbilt University School of Medicine, Nashville, TN;
Michael Brian LaPelusa , Christopher G Cann , Cathy Eng
Organizations
Vanderbilt University School of Medicine, Nashville, TN; , Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; , Vanderbilt-Ingram Cancer Center, Nashville, TN;
Research Funding
No funding received
None.
Background: The feasibility of identifying genomic alterations via next-generation sequencing (NGS) of peripheral blood (PB) to spare patients an invasive biopsy is an active area of investigation. High concordance of mutations between tissue and PB has been observed in several cancer types. However, the concordance between tissue and PB in patients with SCCA is unknown. Methods: We identified 11 patients with SCCA who had NGS (TEMPUS) performed on tissue and PB between 2017 - 2022. The IRB at Vanderbilt-Ingram Cancer Center approved this study. Results: See Table. Conclusions: In 6 of the 11 patients, concordant genomic alterations found in tissue were also identified in PB. More patients with anal cancer should be studied to better understand this phenomenon and the impact of therapy on ctDNA kinetics.
| Patient | Sample | Collection interval (days) | Somatic – potentially actionable (variant allele frequency (VAF), if reported) | Somatic – biologically relevant (VAF) | Variants of unknown significance (VAF) |
|---|---|---|---|---|---|
| 1 | Anus | T | -CDKN2A (47.4%) -TP53 (45.9%) -CCND1 | -TERT (38.5%) -FGF19 -FGF3 -FGF4 | -MTHFR (53.1%) -WEE1 (34.5%) -CBLB (7.9%) |
| PB | T + 643 | -TP53 (1.3%) | -TERT (3.6%) -CDKN2A (1.4%) | -ATM (0.4%) | |
| 2 | Anus | T | -MAPK1 (15.0%) | -ARID2 (15.1%) -FANCA (11.2%) | -SMAD3 (17.4%) -MSH2 (16.9%) -HIST1H1E (15.8%) -EPHA2 (15.4%) -LMNA (14.4%) -FANCA (11.1%) -DYNC2H1 (7.3%) -SETD2 (6.9%) |
| PB | T + 414 | -MAPK1 (7.3%) | None | -KDR (50.4%) -SDHA (46.8%) -MSH2 (6.9%) | |
| 3 | Anus | T | None | -FAT1 (22.2%) -CASP8 -ERCC3 -FHIT -FOXP1 -LRP1B | -SYNE1 (22.2%) -PTPN11 (18.1%) |
| PB | T + 484 | None | -MYC | -HNF1A (57.4%) | |
| 4 | Lung | T | -PIK3CA (37.0%) | -CYLD (64.1%) -CREBBP (21.7%) -EBF1 | -KIF1B (35.0%) -CREBBP (25.7%) |
| PB | T + 1057 | None | None | None | |
| 5 | Pelvis | T | -PIK3CA (18.6%) | -STK11 (38.0%) -BCL118 -SLIT2 | -STK11 (36.0%) -TPM1 (33.7%) -AMER1 (24.1%) -CTRC (22.3%) -RAD51B (19.7%) -ETS2 (18.7%) |
| PB | T + 763 | None | -STK11 (32.0%) | -STK11 (34.8%) -TPM1 (26.9%) -CTRC (20.8%) -AMER1 (17.9%) -CD40 (9.7%) -RAD21 (6.7%) -CHD7 (6.4%) | |
| 6 | Brain | T | None | -CYLD (83.4%) | -SETD2 (84.2%) -SEC63 (45.6%) -AGO1 (40.6%) -ATRX (34.7%) |
| PB | T + 763 | None | -SDHA (1.3%) | -FGFR2 (49.7%) -MAP2K1 (0.9%) | |
| 7 | Anus | T | None | -APC | -APOB (25.1%) -ROS1 (21.8%) -GRM3 (20.1%) -MYH11 (20.0%) -PMS2 (19.4%) |
| Blood | T + 369 | None | None | None | |
| 8 | Anus | T | -PIK3CA (22.8%) | -KMT2D (43.5%) -B2M | -PHOX2B (85.3%) -HSD3B1 (38.8%) |
| PB | T + 205 | -PIK3CA (24.5%) | None | -PBRM1 (85.1%) -DDR2 (49.9%) -MYCN (48.6%) -APC (12.1%) -SDHA (0.9%) -CDKN2A (0.2%) | |
| 9 | Anus | T | None | -CYLD (23.0%) | -UBC (26.1%) -RAD51C (24.5%) -JAK2 (17.9%) |
| PB | T + 989 | None | None | -RAD51C (40.9%) -JAK2 (33.8%) -MTOR (13.9%) -PMS2 (5.7%) -BRCA1 (4.8%) | |
| 10 | Anus | T | -PIK3CA (45.8%) -FBXW7 (14.3%) -CDKN2A | -CDKN2B -SOX2 | -SDHC (18.8%) -EPHA2 (14.9%) -ABL1 (13.9%) -CD70 (12.3%) -SMARCA1 (11.7%) |
| PB | T + 763 | -PIK3CA (14.9%) | -FBXW7 (28.7%) | -ERBB2 (28.2%) | |
| 11 | Anus | T | -KMT2C/MLLC (18.8%) -PIK3CA | -EP300 (32.8%) -CREBBP (28.4%) -ASXL1 (7.0%) -BCL6 -MCL1 -SOX2 | -NSD1 (16.7%) -LRP1B (13.7%) -DNM2 (7.1%) -KLHL6 (6.1%) -ERBB4 (5.7%) |
| PB | T + 1713 | None | None | None |
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Abstract Details
Session Type
Poster Session
Session Title
Poster Session C: Cancers of the Colon, Rectum, and Anus
Track
Colorectal Cancer,Anal Cancer
Sub Track
Diagnostics
Citation
J Clin Oncol 41, 2023 (suppl 4; abstr 2)
DOI
10.1200/JCO.2023.41.4_suppl.2
Abstract #
2
Poster Bd #
A6
Abstract Disclosures
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