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Clinical case

Clinical case. Blanca Gonzalez- Farre , I.Salaverria , D.Costa , CM Panizo, C. Lopez, R. Siebert, E. Campo. Clinical course. Consultation case 17 years-old female Caucasian Submandibular LN.

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Clinical case

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  1. Clinical case Blanca Gonzalez-Farre, I.Salaverria, D.Costa, CM Panizo, C. Lopez, R. Siebert, E. Campo

  2. Clinical course • Consultation case • 17 years-old female • Caucasian • Submandibular LN

  3. Effacement of the normal architecture by an atypical lymphoid proliferation with a “starry sky” pattern

  4. Medium sized cells with finely clumped chromatin. Highly proliferative tumor

  5. Focal areas with slightly pleomorphic cells

  6. CD20 CD5 CD3

  7. CD10 BCL6 Ki67 BCL2

  8. MYC TdT EBER

  9. Genetic studies • FISH studies done in Barcelona • FISH LSI MYC BAP: No rearrangement. 3 copies of MYC in 35% of cells studied. • FISH studies done in Kiel • FISH LSI IGH: No break • FISH LSI BCL6: No break • FISH LSI BCL2 : No break • IGH-MYC dual color dual fusion: No fusion • 11qBL probe (not commercial): extra copies (2-5) for the green signal • Copy number profile using Affymetrix SNP 6 array: 14 regions of copy number aberration (7 gains, 1 amplification and 7 losses) and one region of copy neutral loss of heterozygosity (CN-LOH)

  10. MYC BAP No breaks, 3 copies of MYC in 35% of cells studied

  11. BCL2 BAP 2 copies for BCL2, no breaks

  12. Copy number aberrations and loss of heterozygosity* • 14 regions of copy number aberration (6 gains, 1 amplification and 7 losses) and one region of copy neutral loss of heterozygosity (CN-LOH). *Build = NCBI Build 37

  13. Copy number (CN) and CN-LOH aberrations* CN profile +3q24-q29 +11q14.1 - q23.3 +12q11-q22 +18q12.1-q21.32 -6q12-q27 -18q213-q23 Allelic ratio Gain Loss CN-LOH 11q23.3-q25 * Only large regions alteration (>15MB) are labelled with arrows

  14. Amplif 11q23.3 chr11 +11q14.1 - q23.3 CN-LOH 11q23.3-q25 Gain CN-LOH

  15. Verification of 11q aberration by FISH CEP11 RP11-414621 RP11-629A20 (ETS1 gene) 2 copies for the centromer (blue signal), 2 copies for ETS1 (red signal), and 2-5 copies for RP11-414G21 (green signal)

  16. Summary • High grade B-cell lymphoma with peculiar morphological and immunophenotypical features • Morphologically Burkitt lymphoma with some and scattered larger cells • Absence of MYC translocation • Absence of other primary translocations (negative for breaks of BCL2, BCL6, IGH) • Presence of chr11 aberrations previously associated to MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma, with the peculiarity that the described 11q loss is in this case a strength of CN-LOH that could be selecting potential mutations in tumor suppressor genes in this region (for example ETS1). • Final Diagnosis: Burkitt-like lymphoma with 11q alterations

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