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Table. 3.

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

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