Several porta hepatis and portacaval lymph nodes have increased metabolic activity. (Dominant portacaval lymph node SUV max: 7.7) The spleen shows diffuse increased activity (SUV max: 6.3). Mildly prominent cardiophrenic lymph nodes show minimal increased metabolic activity (SUV max: 2.4).

The peripheral blood smear shows moderate leukocytosis (23.8 K/ul) due to circulating blastoid cells which are  intermediate in size with groved or indented or cloverlike nuclei, dispersed chromatin, variably distinct nucleoli and scant cytoplasm. The red cells are normocytic and show mild anisocytosis. Platelets are markedly reduced in number but show normal granulation.

The bone marrow is extensively involved by dense neoplastic lymphoid infiltrate dispersed interstitially in hypocellular areas and packed in the hypercellular areas. The lymphoma cells are intermediate in size with slightly irregular nuclei, dispersed chromatin, variably distinct nucleoli and scant cytoplasm. Mitotic activity can be readily appreciated. Residual hematopoiesis is markedly reduced on this preparation.

CD20 and PAX5 are strongly positive supporting B-cell lineage.

BCL2 is also strongly positive. Many lymphomas including CLL, MZL, FL and MZL all are positive for BCL2 by immunostain but only FL shows underlying t(14;18) translocation.

SOX11 a nuclear transcription factor is strongly positive supporting MCL diagnosis. Also flow cytometry analysis performed on peripheral blood specimen demonstrated a monotypic kappa light chain restricted B cell population CD19+, CD20+bright, CD5+dim, CD23-, CD10- supporting MCL with CD5 expression.

Cytogenetics showed a clonal karyotype without a t(11;14) CCND1 translocation.

47,XY,inv(5)(p15.3q11.2),add(7)(q36),+mar[30%]

Molecular studies showed pathogenic mutations in RB1 and ATM.

RB1 c.1030C>T, p.Q344* (NM_000321.2)
This point mutation in exon 10 of the RB1 gene results in a premature stop signal at codon 344, which would be expected to reduce or abrogate the functional activity of this protein product. RB1 deletions and mutations are common events in mantle cell lymphoma (MCL), and some evidence suggests RB1 deletion is associated with a poor prognosis (Blood. 2014 May 8;123(19):2988-96, Blood. 2015 Jul 30;126(5):604-11).

ATM c.8293G>A, p.G2765S (NM_000051.3)
This sequence change in exon 57 of the ATM tumor suppressor gene results in a glycine to serine substitution at amino acid 2765 (kinase domain) of the protein. The G2765S variant has not been reported as a somatic mutation in cancer (cancer.sanger.ac.uk/cosmic). It has been described as a very rare inherited allele in the general population (Exome Aggregation Consortium Project), and has been categorized as pathogenic/likely pathogenic in ClinVar (www.ncbi.nlm.nih.gov/clinvar/variation/186351/). It is projected as deleterious by in silico prediction tools (SIFT: http://sift.jcvi.org/). It should thus be considered suspicious for a pathogenic impact. ATM inactivation is a common event in mantle cell lymphoma (MCL), and has been implicated in the pathogenesis of MCL (Leukemia. 2015 Jun;29(6):1414-24). ATM mutations are seen in approximately 47% of MCLs (Blood. 2014 May 8;123(19):2988-96, Reviewed in Crit Rev Oncol Hematol. 2016 Nov;107:14-19).