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Case Reports
. 2020 Oct 18;8(12):3303-3310.
doi: 10.1002/ccr3.3395. eCollection 2020 Dec.

Diagnostic challenges in an aggressive case of peripheralizing marginal zone lymphoma

Sujal I Shah  1 , Christopher R D'Angelo  2 , Jeremy D Kratz  2 , David T Yang  1
Affiliations
Case Reports

Diagnostic challenges in an aggressive case of peripheralizing marginal zone lymphoma

Sujal I Shah et al. Clin Case Rep. .

Abstract

B-cell lymphomas with atypical presentation or immunophenotype pose diagnostic challenges. Conventional ancillary tests (cytogenetics, FISH) can help, but have technical limitations. New technologies such as mate-pair sequencing (MPSeq) offer a route around these technical limitations.

Keywords: B‐cell lymphoma; cytogenetics; mate‐pair sequencing; splenic marginal zone lymphoma; t(2;7).

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Conflict of interest statement

None declared.

Figures

Figure 1
Figure 1
Peripheral blood smear. Abundant cells with high nucleus/cytoplasm ratio and variably prominent nucleoli
Figure 2
Figure 2
Peripheral blood flow cytometry. A, The atypical cells (in red) are positive by both CD20 and CD19. B, The cells are CD5‐positive. C, The cells are monoclonal, showing strong expression for lambda light chain. D, The cells are negative by both CD200 and CD23
Figure 3
Figure 3
CT Abdomen/Pelvis from diagnosis, revealing splenomegaly without appreciable additional mesenteric adenopathy
Figure 4
Figure 4
Splenic marginal zone lymphoma involving bone marrow. A, Hematoxylin and eosin stained section showing infiltrate of small, mature lymphocytes (20x). B, Lymphocytes stain positive for CD20 (10x). C, Lymphocytes are negative for Cyclin D1 (10x). D, Lymphocytes are negative for SOX11 (10x). E, Lymphocytes are negative for CD23 (20x). F, Lymphocytes are negative for LEF‐1 (20x)
Figure 5
Figure 5
Mate‐pair sequencing. 1) Genomic DNA is fragmented to 2‐5 Kb fragments and 2) the ends of the fragments are biotinylated. 3) Fragments are then circularized to bring the biotinylated ends together and then 4) the circularized DNA is fragmented to 200‐500 bp fragments. 5) Biotinylated fragments are captured and 6) the library preparation is completed by adding tags and adaptor sequences to the fragment ends for identification during multiplexing and hybridizing to the flow cell for subsequent 7) cluster generation. Because the fragment was originally circularized, the sequence obtained should be mapped to two areas of the genome approximately 2‐5 Kb apart. A genomic duplication or deletion will result in an unexpected distance between the sequences on a fragment. A translocation will result in the mapping of two unexpected chromosomes on the same fragment. An inversion will result in mapping an unexpected orientation in a portion of the sequence of a fragment
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