Case Study of a Male in His 70s with
Anemia and Weight Loss.
Case Presentation
The patient is a 75-year-old male who initially presented due to anemia and a 15-pound weight
loss over 3 months. Following this, the patient continued to have increased weight loss and CT
several months later showed multiple enlarged cervical and left subpectoral lymph nodes.
Pertinent lab findings and ancillary testing:
Creatinine of 1.7 (mg/dL) (Reference interval (RI) 0.5-1.4 mg/dL)
Serum protein studies demonstrated slightly depressed IgG at 606 mg/dL (RI 751-1560mg/DL),
elevated IgM at 582 mg/dL (RI40-274 mg/dL), and normal IgA (83 mg/dL(82-453 mg/dL).
Serum protein electrophoresis had three monoclonal spikes of 1.18 g/dL, 0.64 g/dL, and 0.12
g/dL. Immunofixation found these monoclonal components to be of types IgA lambda, IgM
lambda, and IgG lambda. As expected from these findings turbidimetric measurement of serum
free light chains found that lambda light chain was elevated at 1394.7 mg/L (RI 5.71 – 26.30
mg/L), unusually free kappa light chain was also elevated at 186.7 mg/L (RI 3.3-19.4 mg/L) with
an abnormal free kappa/lambda ratio of 0.13 (RI 0.26 – 1.65).
A peripheral blood smear demonstrated pancytopenia with WBC at 1.7 X10^9/L (RI 3.8-10.6)
and RBC at 2.78 X 10^12/L (RI 4.13-5.17) with absolute neutropenia (1.3 X10^9/L RI 2.24-
1
, 2
7.96). Bone marrow biopsy demonstrated CD20 positive small b-cell lymphoma extensively
involving the bone marrow. The bone marrow is approaching 100% cellularity and has an
extensive infiltrate of lymphoma cells with mostly a diffuse pattern of infiltration. There are
several, somewhat prominent germinal centers within the infiltrate. Flow cytometry
demonstrated a monotypic B lymphoid population accounting for about 18% of total events that
are positive for CD19, CD20, CD45, and lambda and negative for CD5,CD10, CD11c, CD103,
CD123, and kappa. CD38 was variably positive with a subset bright positive and CD13 and
CD33 were partial dim positive. Overall these studies support the diagnosis of a B-cell
lymphoma with plasmacytic differentiation (IgM-lambda), which occupies about 80% of the
bone marrow cellularity on the biopsy. FISH studies detected the following chromosomal
abnormalities: deletion of the long arm of chromosome 7 and abnormal chromosomes 4 and 11
derived from the translocation between long arms of chromosomes 4 and 11 along with deletion
of the long arm of the derivative chromosome 11 resulting in partial monosomy 11q. The del7q
encompasses the minimal common deleted region that is known to be associated with b-cell
lymphoma including marginal zone lymphoma and splenic marginal zone lymphoma.
NGS studies revealed mutations involving DNMT3A and two mutations involving KLF2. KLF2
mutations are common in marginal zone lymphoma and are associated with del7q mutations
however, they are not specific and can be seen in other b-cell lymphomas.
Overall, these features suggest this is a marginal zone lymphoma, including the possibility of a
splenic marginal zone lymphoma.
The patient continued to have increasing M-spike and risking IgM levels. The creatine also
continued to elevate and reached 5.4 mg/dL (RI 0.5-1.4 mg/dL) at its highest. The patient was
2
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