Case #1

07/24/2022

A 21-year-old male presented with Lymphadenopathy and suspicion of possible lymphoma. Specimen provided was right inguinal lymph node.

Was B-cell non-Hodgkin lymphoma the diagnosis?

Flow cytometry findings were most compatible with B-cell non-Hodgkin lymphoma which expresses CD10 (49%; kappa).

Based on the flow findings, the leading diagnostic consideration was follicular lymphoma (favor low grade) although the dim to moderate CD71 expression may suggest an increased proliferation rate. Other CD10-positive B-cell lymphoma subtypes could not be excluded by flow cytometry alone.

Correlation with morphologic findings was required for final lymphoma diagnosis, grading, and classification. Immunohistochemical studies provide important additional information in

many cases. We recommended chromosome analysis with reflex FISH testing including 14;18 translocation.

Immunophenotyping

Flow cytometric analysis of the submitted sample isolates a monotypic B-cell population

(approximately 49% of analyzed cells) which expresses CD10, dim CD19, dim CD20, dim

CD22, dimCD23, dim CD38, CD45, dim to moderate CD71 and kappa light chain (see

table). CD5, CD25 and CD11c are negative. Forward scatter suggests predominantly small

to medium-sized cells. Larger cells account for <10% of cells. T-cells (approximately 50.2% of analyzed cells) do not demonstrate pan-T-cell marker deletion or other phenotypic aberrancies; the CD4:CD8 ratio is 2.1:1.

Karyotype: 46,XY,dup(11)(q13.3q23.3)[3]/46,XY[5]

Interpretation: BNORMAL KARYOTYPE with a duplication of 11q, confirmed by FISH, is genetically compatible with a high-grade B-cell lymphoma (the provisional entity Burkitt-like lymphoma with 11q abnormalities [2016 WHO]) in the context of the flow cytometry and cytogenetic reports, and consultation with the patient’s doctor.

The abnormal karyotype was observed in 3 of 8 GTW banded metaphase cells analyzed. In a lymphoma with CD10 expression and absence of MYC, BCL2, and BCL6 rearrangements, the presence of 11q aberrations, such as duplications, deletions, inversions, and other rearrangements, especially when present as the sole abnormality, have been seen in Burkitt-like lymphoma with 11q abnormalities. Although these cases have been considered aggressive, the prognosis may be slightly better than in classic Burkitt lymphoma (in HIV negative patients). Suggest correlation with all clinicopathologic data.

Ref.: Salaverria et al. A recurrent 11q aberration pattern characterizes a subset of MYC negative high-grade B-cell lymphomas resembling Burkitt lymphoma. Blood, 2014;123(8):1187-98.

Only 8 cells were available for analysis, which is less than our minimum standard of 20 cells. However, this finding is clinically significant.

The following culture was set up for this oncology cytogenetic study: 24-hour unstimulated culture.

Interpretation:

RIGHT INGUINAL LYMPH NODE; FOLLICULAR LYMPHOMA PANEL, MARGINAL ZONE LYMPHOMA PANEL, CCND1 (11q13.3), BIRC3::MALT1 (11q22.2-18q21.3), MYC (8q24), & KMT2A (11q23.3):

  • POSITIVE for GAIN (but NOT rearrangement) of KMT2A and for GAIN of BIRC3 (DUPLICATION of 11q)
  • NEGATIVE for MONOSOMY/DELETION of CHROMOSOMES 7 and 17; TRISOMIES 3, 12, and 18; BCL6, MYC, CCND1, IGH, BCL2, and MALT1 REARRANGEMENTS; and for BIRC3::MALT1 (11;18) and IGH::BCL2 (14;18) FUSIONS

The duplication of 11q, confirmed by this FISH study, is genetically compatible with a high-grade B-cell lymphoma (the provisional entity Burkitt-like lymphoma with 11q abnormalities [2016 WHO]) in the context of the flow cytometry and cytogenetic reports, and consultation with patient’s doctor. The preliminary cytogenetic result (CG22-003512) showed a possible duplication of 11q, which has been confirmed by this FISH result. In a lymphoma with CD10 expression and absence of MYC, BCL2, and BCL6 rearrangements, the presence of 11q aberrations, such as duplications, deletions, inversions, and other rearrangements, especially when present as the sole abnormality, have been seen in Burkitt-like lymphoma with 11q abnormalities. Although these cases have been considered aggressive, the prognosis may be slightly better than in classic Burkitt lymphoma (in HIV negative patients). Suggest correlation with all clinicopathologic data.

Ref.: Salaverria et al. A recurrent 11q aberration pattern characterizes a subset of MYC negative high-grade B-cell lymphomas resembling Burkitt lymphoma. Blood, 2014;123(8):1187-98.

Results: nuc ish(BCL6x2)[100],(D7Z1,D7S522)x2[100],(MYC)x2)[100],(CCND1)x2[100], (BIRC3x3,MALT1x2)[28/141],(KMT2Ax3)[47/129],(D12Z3x2)[100],(IGHx2)[100],(IGH,BCL2)x2[10],(TP53,D17Z1)x2[100],(MALT1x2)[100],(BCL2x2)[100]

Comments:

Cultured interphase nuclei were scored manually and/or utilizing the BioView automated slide scanning system. Gain of BIRC3 at 11q22.2 and KMT2A at 11q23.3 were detected in 19.9% and 36.4% interphase cells analyzed, respectively. Multiplex probes used and chromosome location: 3’BCL6/5’BCL6 (3q27); D7Z1/D7S522 (7cen/7q31); 5'MYC/3'MYC (8q24.2); 5’CCND1/3’CCND1 (11q13.3); BIRC3::MALT1 (11q22.2-18q21.3); 5’KMT2A/3’KMT2A (11q23.3); 3’IGH/5’IGH (14q32.3); IGH::BCL2 (14q32.3-18q21); TP53/D17Z1 (17p13.1/17cen); 5’MALT1/3’MALT1 (18q21.3); 3’BCL2/5’BCL2 (18q21). Single probes used and chromosome location: D12Z3 (12cen). Interphase FISH morphometric analysis was performed to screen for the loci indicated above and does not detect other chromosomal abnormalities.


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