TABLE 5.
Clinical and histopathologic features of CVID for whom the diagnosis of lymphoma was reversed
| Case | Age at CVID diagnosis in years (gender) | Recurrent infections | Autoimmune; lymphoproliferation features | Other features | Baseline Ig levels (mg/dl) | Malignant diagnosis (age at biopsy) | Biopsy site: pathological features concerning for malignancy | Course of Chemotherapy | Final diagnosis |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 46 (M) | Sinusitis Bronchitis Pneumonia |
AIHA, ITP, Splenomegaly | Enteropathy, Granulomatous lung and liver disease | IgG: 114 IgA: 14 IgM: 9.7 |
MZL (63) | Bone marrow: kappa B-cell predominance and IgH clonal increase | No | Monoclonal B-cell lymphocytosis |
| 2a | 45 (M) | Bronchitis Pneumonia Shingles |
Axillary LAD Abdominal LAD |
Enteropathy | IgG: 107 IgA: <6 IgM: <6 |
MZL (48) | R axillary LN: kappa B-cell predominance and IgH clonal increase | Rituximab | Marginal zone hyperplasia |
| 3a | 37 (M) | Sinusitis Bronchitis Pneumonia Shingles |
AIHA, ITP; Splenomegaly Diffuse LAD |
IgG: 186 IgA: 9 IgM: 24 |
MZL (42) | Bone marrow: lambda B-cell predominance, no IgH clonal increase | R-bendamustine, Rituximab | Normocellular bone marrow with progressive tri-lineage hematopoiesis, scattered interstitial lymphocytes present, no atypical cell population identified, no morphological evidence of lymphoma | |
| 4 | 28 (F) | Sinusitis Bronchitis Pneumonia Giardia |
AIHA, ITP; Splenomegaly Diffuse LAD | Granulomatous liver and lung disease, Enteropathy |
IgG: <6 IgA: <6 IgM: 22 |
DLBCL (37) | Cervical LN: B-cell lymphocytosis, clonal B-cell population with excess kappa light chain | Cytoxan, Prednisone and Vincristine | Reactive lymphoid hyperplasia |
| 5a | 25 (F) | Sinusitis, Bronchitis Streptococcal pharyngitis Mycoplasma pneumonia EBV; Shingles Parvovirus Norovirus |
Lymphopenia, neutropenia, ITP; Splenomegaly | Enteropathy Granulomatous lung disease |
IgG: <15 IgA: <7 IgM: <6 |
MZL (27) | Lung and node: atypical morphologic features of lymphocytes, polytypic light chain expression with IgH clonal increase | Rituximab | Nodular lymphoid hyperplasia, clusters of histocytes with ill-defined and poorly formed granulomas |
| 6a | 43 (M) | Chronic respiratory infections, fevers | Primary biliary cholangitis; Hashimoto thyroiditis; Splenomegaly | Liver and bone marrow granulomatous disease; interstitial lung disease with hypoxemia. | IgG: 116 IgA: <5 IgM: 6 |
MZL (47) | Right parotid gland and lymph node | Rituximab given only for granulomatous disease only | Atypical marginal zone hyperplasia |
Note: Abbreviations: AIHA, autoimmune hemolytic anemia; DLBCL, diffuse B-cell lymphoma; ITP, idiopathic thrombocytopenia; LAD, lymphadenopathy; LN, lymph node; MZL, marginal zone lymphoma.
a
Whole exome sequence analysis was performed for gene mutations for established immune defects