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(MDS/MPN) - 유 전자패널 (분자진 단) 결과]
1. Variants of Strong Clinical Significance (Tier 1) --------------------- --------------------- -----------
Gene Nucleotide Amino acid VAF(%) --------------------- --------------------- -----------
None --------------------- --------------------- -----------
Note: Benign or likely benign (Tier 4) variants are not reported.
[INTERPRETATIO N]
1. Variants of clinical significance or uncertain clinical significance (Tier 1-3) are not detected.
[SPECIMEN TYPE]
Bone marrow aspirate (EDTA) [2020.09.24] [20094] (specimen collection date: 2020.09.17)
[TEST INDICATION] Myeloproliferati ve Neoplasm (R/O Polycythemia Vera)
[METHOD SUMMARY] Next generation sequencing: Ion S5XL system, Torrent Suite pipeline Reference sequence: GRCh 37 (hg19) Nomenclature: According to Human Genome Variation Society Guidelines Reference
Database: COSMIC (http://cancer.sa nger.ac.uk), ClinVar (https://www.nc bi.nlm.nih.gov/c linvar/),c- bioportal (http://cbioport al.org)
Coverage criteria: Mean target coverage ≥ 875X, % target base coverage: 98% for ≥500X Categorization of variants: Based on AMP, ASCO, CAP Joint consensus recommendatio n (J Mol Diagn 2017;19:4-23), Tier IV variants are not reported.
Tier 1: Variants of Strong Clinical Significance
Tier 2: Variants of Potential Clinical Significance
Tier 3: Variants of Unknown Clinical Significance
Tier 4: Benign or Likely Benign Variants
[GENES INCLUDED IN THE PANEL] Reference sequence and target exons for 38 genes
ASXL1 (NM_015338) exons 4-12, BCOR (NM_00112338 5) exons 2-10, E1443-T1497, exons 12-15, BRAF (NM_004333) M1-G21, V47- Y78, A91-Q165, exon 4, V238- Y266, G327- D361, exon 11, 15, G672-Q709, R735-*, CALR (NM_004343) exons 1-3, G133-Q267, exons 7-9, CBL (NM_005188) Exons 8-9,
CEBPA (NM_004364) exon 1, CSF3R (NM_156039) Exon 14, V755- E835, (NM_172313) exon 18, DNMT3A (NM_022552) exons 11-13, E523-E774, 15- 18, E725-E774, exons 20-23, ETV6 (NM_001987) exons 1-7, R418-E449, EZH2 (NM_004456) exons 2-20, FLT3 (NM_004119) exons 8, 11, 13- 16, 20, 23, 25, GATA2 (NM_032638) exons 4-5, HRAS (NM_00113044 2) exon 2, D38- E91, IDH1 (NM_005896) K72-Q138, IDH2 (NM_002168) exon 4, IKZF1 (NM_006060) exons 2-5, G141-R193, exons 7-8, JAK2 (NM_004972) exons 12-14, N622-W659, KIT (NM_000222) exon 1, G23- C58, exons 8- 11, 13, 17, KRAS (NM_033360) exons 2-5, (NM_004985) exon 5, MPL (NM_005373) R71-V127, R179-E230, exon 10, E564- *, MYD88 (NM_00117256 7) exons 3, 5, NF1 (NM_00104249 2) exons 1-8, K297-L353, exons 10-24, S1072-K1105, exons 26-38, N1875-S1938, exons 40-58, NPM1 (NM_002520) exon 11, NRAS (NM_002524) exons 2-4, PHF6 (NM_0032458)
exons 2-10, PRPF8 (NM_006445) exons 2-43, PTPN11 (NM_002834) exons 3, 12, 13, RUXN1 (NM_001754) exons 2-9, SETBP1 (NM_015559) Q809-R891, SF3B1 (NM_012433) A603-I679, G693-V727, Y752-K790, exons 17-21, SH2B3 (NM_005475) exons 1, 3-8, (NM_00129142 4) exon 2, SRSF2 (NM_003016) exon 1, STAG2 (NM_00104274 9) exons 3-5, V98-G129, exons 7-8, A223-L266, exons 10-21, S704-Q728, I729-K755, exons 24-35, TET2 (NM_00112720 8) exons 3-11, TP53 (NM_00546) exons 2-11, (NM_00127669 9) exon 6, U2AF1 (NM_00132065 1) exons 2, 7, WT1 (NM_024426) Exon 7, 9, ZRSR2 (NM_005089) exons 1-7, R189-K257, exons 9-11
[DISCLIAMER] 1.Some genetic or genomic alterations, such as large insertion/deletio n (indel) events, copy number alterations (CNA) and gene translocation events are not detected by this assay
2. Limit of detection of single nucleotide variants and small insertion/deletion is 5%.
3. The depth of sequencing coverage may be variable for some target regions, but assay performance below the minimum acceptable criteria, or for failed regions are noted.
4. FLT3-internal tandem duplication and variants in the GC-rich region may not be detected by this method, thus additional molecular methods may be needed to confirm the findings.
5. Variants detected are not re-confirmed by other methods such as Sanger sequencing. This assay does not distinguish between somatic and germ line variants in the analyzed gene regions, particularly with variant allele frequency near 50% or 100%. 6. The categorization made in the report may be changed due to the updates in the population, gene or cancer- specific variant databases, or by additional clinical information. 7.This report interpretation is based on current medical and scientific literature, but clinical significance may not be completely established for all reported target gene
abnormalities identified.
[REFERENCE] 1. J Mol Diagn 2017;19:4-23. 2. J Mol Diagn 2018;20:717- 737.
3. WHO classification of tumours of haematopoietic and lymphoid tissues (Revised 4th edition)
[판독의]
ML, SHS, SMH, KUP MD [2020.10.22.] 031-787-7694