pISSN 2234-3806eISSN 2234-3814
Table. 3.
Structural variations missed by OGM and probable cause of detection failure
| Sample ID | Diagnosis | Structural variations missed by OGM | Possible explanation for discordant results | Comment |
|---|---|---|---|---|
| 12 | CML-CP | t(3;11)(p21;q13) | Low map rate and coverage(map rate 24.5%, coverage 99.11×) | |
| 13 | CML-CP | t(7;9)(q22;q34) | Involvement of telomeric region | |
| 14 | PMF | t(1;6)(q21;p21), gain of 1q21q44 | Detection sensitivity | Detected in 15% (3/20) of cells in CBA |
| 15 | MDS-EB-2 | t(1;10)(q21;q11.2) | Involvement of centromeric region | |
| 16 | MDS-SLD | t(2;14)(q35;q13), gain of 14q13q32, monosomy 14, del(13)(q13q22) | Detection sensitivity orlow map rate and coverage(map rate 28.4%, coverage 87.75 X) | Detected in 16% (3/19) of cells in CBA |
| 20 | B-ALL | Microdeletion in Xp22.33 | Involvement of telomeric region | |
| 24 | MZBCL | Monosomy 17, monosomy X, +der(6;9)(p10;p10), marker chromosome | Low map rate and coverage(map rate 38.9%, coverage 98.85 X) | Not detected by NGS CNV |
| 25 | LPL | del(16)(q22) | Detection sensitivity | Detected in 28% (7/25) of cells in CBA |
| 26 | PCM | t(12;18)(p11.2;p11.2) | Involvement of centromeric region | |
| 27 | PCM | t(X;6)(p11.2;p25), t(11;14)(q13;q32) | Detection sensitivity | Detected in 17.5% (7/40) of cells in CBA |
Abbreviations: OGM, optical genome mapping; B-ALL, B-lymphoblastic leukemia; CML-CP, chronic myeloid leukemia in chronic phase; PMF, primary myelofibrosis; LPL, lymphoplasmacytic lymphoma; MDS-EB-2, myelodysplastic syndrome with excess blasts-2; MDS-SLD, myelodysplastic syndrome with single lineage dysplasia; MZBCL, marginal zone B-cell lymphoma; PCM, plasma cell myeloma.
Ann Lab Med 2024;44:324~334 https://doi.org/10.3343/alm.2023.0339
© Ann Lab Med