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Table. 2.

Table. 2.

Comparison of routine diagnostic test results with OGM results in complex cases

Sample ID Diagnosis Karyotype FISH RT-PCR/RNA fusion OGM results
(SV tool and/or CNV tool)
Summary
1 AML 46,XY,del(5)(q13q31),del(7)(q11.2),+11,der(12)t(1;12)(p13;q24.3),?psu dic(17;16)(p11.2;q21),?der(18)t(18;19)(q23;q13.1-13.3)[20] NA Negative del(5)(q14.3q34), del(7)(q11.23), +11, t(1;12)(p13.3;q24.33), t(17;16)(p11.2;q21), t(18;19)(q23;q13.2) Concordant
7 AML 45,XX,del(11)(q14q24),-16,der(21)t(16;21)(p11;q22)[20] NA FUS-ERG del(11)(q14.1q24.1), -16, t(16;21)(p11.2;q22.2) FUS-ERG Concordant
15 MDS-EB-2 48,XY,+8,+der(10)t(1;10)(q21;q11.2)[4]/49,sl,+9[14]/50,sdl1,+6[4]/46,XY[2] Positive for trisomy 8 Negative +8, dup(1)(q21.1q44), dup(10)(p11.1p15.3), dup(10)(q11.2) +9, +6 Partial concordance
16 MDS-SLD 45,XX,der(2)t(2;14)(q35;q13),del(5)(q14),del(11)(q14),del(13)(q13q22),-14[3]/46,XX[16] NA NA del(2)(q35q37.3), del(5)(q31.1), del(11)(q12.2) Partial concordance
20 B-ALL 48-52,XX,dup(1)(q32q21),+4,+6,+9,+der(14)t(14;21)(q21.1;q21.2),+21,+21[cp6]/46,XX[29] NA

P2RY8-CRLF2

Negative for BCR-ABL1

dup(1)(q31.3q21.2), +4, +6, +9, +21, +21, t(14;21)(q21.1;q21.2), dup(14)(q11.2q21.1), dup(21)(q21.2q22.3) Partial concordance
24 MZBCL 46,X,-X,t(3;7)(q27;q32),?+der(6;9)(p10;p10), -17,+mar[11]/46,XX,t(3;7)[4]/46,XX[3] NA NA t(3;7)(q27.2;q32.2) Partial concordance
25 LPL 47,XX,+i(5)(p10),del(7)(q32)[18]/47,idem,del(16)(q22)[7] Negative for del(17p), del(11q), and del(13q) NA +i(5)(p10), del(7)(q31.32q36.1) Partial concordance
26 PCM 43,X,der(X)t(X;3)(p11.4;q13.1), del(1)(p21p31),del(2)(q24q32), del(4)(p15.1p15.3),psu dic(12)t(12;18)(p11.2;p11.2),-13,del(14)(q21q31),del(20)(p11.2),-22[5]/46,XX[15]

Positive for del(17p) and t(4;14)

Negative for t(11;14) and t(14;16)

NA t(3;X)(q13.13;p11.4), dup(3)(q13.13q29), del(X)(p11.4p22.33), del(1)(p21.1p31.1), del(2)(q24.1q32.1), del(4)(p15.1p15.33), del(12)(p12.1p13.33), del(18)(p11.22p11.32), -13, del(14)(p21.3p31.3), t(4;14)(q16.3;q32.33), del(20)(p11.2),-22, del(17)(p13.1) Partial concordance
27 PCM 45,X,t(X;6)(p11.2;p25), der(14)t(11;14)(q13;q32), der(18)t(18;21)(q22;q21),-21[cp7]/46,XX[33]

Positive for t(11;14)

Negative for del(17p), t(4;14), and t(14;16)

NA t(18;21)(q22.3;q21.1), del(18)(q22.3q23), del(21)(q21.1q21.3),dup(11)(q13.4q23.1) Partial concordance

Abbreviations: OGM, optical genome mapping; FISH, fluorescence in situ hybridization; RT-PCR, reverse transcription PCR; SV, structural variant; CNV, copy number variant; B-ALL, B-lymphoblastic leukemia; 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; NA, not available.

Ann Lab Med 2024;44:324~334 https://doi.org/10.3343/alm.2023.0339

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