Immunohistochemical and molecular features of 13 EMPs in children
| Patient . | Immunophenotype cyclin D1/CD56/EBER/Ki67 . | Expressed immunoglobulin . | FISH . | Molecular analysis . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| IGH-break . | RB1 Del . | TP53 Del . | 1p/1q . | Clonality (Biomed∗) . | IGH rearrangement (IGHV)† . | IGK/L rearrangement† . | Somatic variants . | |||
| 1 | –/–/–/5%-10% | IgA, κ | nd | nd | nd | nd | IGH | IGH V3-23 J2 (5.13%); IGH V3-33 J4 | IGK | None |
| 2 | –/–/–/5%-10% | IgA, λ | nd | nd | nd | nd | NE | nd | nd | nd |
| 3 | –/–/–/5%-10% | IgA, κ | - | - | - | - | IGH and IGK | IGH V3-48 J6 (5.73%) | IGK, IGL | None |
| 4 | –/–/–/5% | IgG, κ | - | - | - | - | nd | IGH D2-2 J4 | IGK | None |
| 5 | –/–/–/25% | IgA, κ | - | - | - | - | IGH | Not detected | Not detected | None |
| 6 | –/–/–/5%-10% | IgA, λ | nd | nd | nd | nd | IGH | nd | nd | nd |
| 7 | –/–/–/nd | IgG, κ | - | - | - | - | IGH | nd | nd | nd |
| 8 | –/–/–/5%-10% | IgA, λ | – | – | – | – | IGH | Not detected | IGL | None |
| 9 | –/–/–/5%-40% | IgA, IgG, λ‡ | – | – | – | – | IGH | IGH V1-18 D3-10 J3 (3.3%); IGH D7-27 J4 | IGL | None |
| 10 | –/nd/–/5%-40% | IgA, λ | – | – | – | – | IGH | IGH V3-11 J5 (5.1%); IGH D2-2 J6 | IGL | None |
| 11 | –/nd/–/5% | IgA, λ | – | – | – | – | IGH | nd | nd | nd |
| 12 | –/–/–/5% | IgA, λ | – | – | – | – | IGH | nd | nd | nd |
| 13 | –/–/nd/5%-10% | IgA, κ | nd | nd | nd | nd | IGH | nd | nd | nd |
| Patient . | Immunophenotype cyclin D1/CD56/EBER/Ki67 . | Expressed immunoglobulin . | FISH . | Molecular analysis . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| IGH-break . | RB1 Del . | TP53 Del . | 1p/1q . | Clonality (Biomed∗) . | IGH rearrangement (IGHV)† . | IGK/L rearrangement† . | Somatic variants . | |||
| 1 | –/–/–/5%-10% | IgA, κ | nd | nd | nd | nd | IGH | IGH V3-23 J2 (5.13%); IGH V3-33 J4 | IGK | None |
| 2 | –/–/–/5%-10% | IgA, λ | nd | nd | nd | nd | NE | nd | nd | nd |
| 3 | –/–/–/5%-10% | IgA, κ | - | - | - | - | IGH and IGK | IGH V3-48 J6 (5.73%) | IGK, IGL | None |
| 4 | –/–/–/5% | IgG, κ | - | - | - | - | nd | IGH D2-2 J4 | IGK | None |
| 5 | –/–/–/25% | IgA, κ | - | - | - | - | IGH | Not detected | Not detected | None |
| 6 | –/–/–/5%-10% | IgA, λ | nd | nd | nd | nd | IGH | nd | nd | nd |
| 7 | –/–/–/nd | IgG, κ | - | - | - | - | IGH | nd | nd | nd |
| 8 | –/–/–/5%-10% | IgA, λ | – | – | – | – | IGH | Not detected | IGL | None |
| 9 | –/–/–/5%-40% | IgA, IgG, λ‡ | – | – | – | – | IGH | IGH V1-18 D3-10 J3 (3.3%); IGH D7-27 J4 | IGL | None |
| 10 | –/nd/–/5%-40% | IgA, λ | – | – | – | – | IGH | IGH V3-11 J5 (5.1%); IGH D2-2 J6 | IGL | None |
| 11 | –/nd/–/5% | IgA, λ | – | – | – | – | IGH | nd | nd | nd |
| 12 | –/–/–/5% | IgA, λ | – | – | – | – | IGH | nd | nd | nd |
| 13 | –/–/nd/5%-10% | IgA, κ | nd | nd | nd | nd | IGH | nd | nd | nd |
Overview of results of immunohistochemistry, FISH, and molecular analysis to identify clonal rearrangements and somatic variants are shown. For the EuroClonality NDC assay % of somatic hypermutation within productive IGH and only the productive light chain rearrangements are shown. nd was due to not having sufficient material available. Minus symbol represents negativity.
NE, not evaluable.
∗Clonality was analyzed using IGH/κ PCR Biomed.
†Clonality was analyzed using the EuroClonality NDC assay; it was also used to analyze the samples in respect to potential somatic variants. In the table, the clonal IGH and IGK/IGL rearrangement is provided.
‡Bilateral adenectomy with predominant areas IgG, λ and a small focus IgA, λ.