Pulmonary extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue associated with granulomatous inflammation in a child with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome)

Abstract

Patients with immunodeficiency disorders have an increased incidence of lymphoproliferative disorders; however, only 4 such patients with DiGeorge/chromosome 22q11.2 deletion syndrome have been reported. We report a case of a pulmonary Epstein-Barr virus-negative extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue in a child with this syndrome.

Figure 1

Pulmonary wedge excision of the right lower lobe. A, Mass-like dense infiltrate with scattered follicular-type structures. B, Predominantly small lymphoid cells, including some with monocytoid and plasmacytoid features, infiltrating the epithelium. Note the residual epithelial remnants (arrow). Other focal areas show numerous plasma cells. C, Epithelioid granulomas with Langhans giant cells. D, Numerous CD20⁺ cells in the follicles and a moderate number in the interfollicular regions. E, At higher magnification, numerous CD20⁺ small lymphocytes in and around the follicle, also surrounding the residual CD20⁻ epithelial cells (arrows). F, Double immunostaining for κ and λ immunoglobulin light chains showing numerous λ⁺ plasma cells (red/brown), but only rare κ⁺ plasma cells (black). The λ restriction was confirmed by κ and λ single immunostains and in situ hybridization stains. The plasma cells were IgG⁻, IgA⁻, IgM⁺, and IgD⁻. G, Small aggregates of small lymphocytes and plasma cells away from the main mass. H, In contrast to the main mass, the plasma cells here show κ light chain restriction in this double-immunohistochemical stain. (A, B, C, and G, hematoxylin and eosin staining; D and E, immunoperoxidase staining for CD20; F and H, double-immunoperoxidase staining for κ and λ immunoglobulin light chains).

Figure 2

A and B, Chest CT scans showing multiple nodules throughout the lung parenchyma. C, Fluorodeoxyglucose PET showing extensive hypermetabolic cervical, axillary, mediastinal, abdominal, and pelvic lymphadenopathy, along with diffusely increased bone marrow, splenic, and gastric activity.