Post-transplant lymphoproliferative disease (PTLD) is a rare lymphoid and/or plasmacytic proliferation that occurs in the context of immunosuppression because of solid organ transplantation (SOT) and allogeneic hematopoietic stem cell transplantation (HSCT). PTLD is the most common cancer in children who receive a SOT or HSCT, occurring in up to 13% of these patients. The majority of PTLDs are extracutaneous B-cell lymphomas, with only 12% to 14%, representing the T-cell phenotype. PTLDs can involve the skin and behave like an aggressive lymphoma, and are among the most serious and potentially fatal complications of transplantation. Here we present a case report and review of the literature of pediatric cutaneous PTLD.
Rationale:We report a case of paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance, treated with keratoprosthesis as a primary penetrating procedure. Histopathological findings and a world literature review are presented.Patient concerns:A 74 year old female recently diagnosed with monoclonal gammopathy undetermined significance presented with progressive blurry vision bilaterally.Diagnoses:Examination revealed corneal opacities consistent with paraproteinemic keratopathy.Interventions:Corneal transplantation with the Boston Type I keratoprosthesis was performed on the right and, a year later, on the left.Outcomes:Visual outcomes were good. Histopathological staining of host corneal buttons were consistent with monoclonality, and electron microscopy revealed fibrillar extracellular aggregates within intervening normal stroma.Lessons:Corneal deposits may be the only manifestation of monoclonal gammopathy of undetermined significance in patients who are otherwise systemically asymptomatic. Ophthalmologists who encounter corneal opacities may order the appropriate diagnostic studies to determine the presence of occult systemic disease. Risk of graft failure after penetrating keratoplasty from recurring opacities is high, so keratoprosthesis as a primary penetrating procedure may afford superior long-term outcomes. Host corneal buttons retrieved from penetrating keratoplasty or corneal biopsy may be sent for histopathological examination to confirm the diagnosis.
Richter transformation (RT), or Richter syndrome, is defined as the transformation of chronic lymphocytic leukemia (CLL) to an aggressive B-cell lymphoma. The vast majority, up to 99%, transform into diffuse large B-cell lymphoma (DLBCL), with a small subset (<1%) becoming classical Hodgkin lymphoma. Approximately half of RT cases progress through a pathway involving dysregulation of C-MYC. High-grade B-cell lymphoma (HGBL) is a recent diagnostic category of aggressive B-cell lymphomas set forth in the updated 2017 WHO Classification of Hematopoietic and Lymphoid Tissues. HGBL with
MYC
and
BCL2
and/or
BCL6
rearrangements, formerly “double-hit” and “triple-hit” lymphomas, comprise the majority of HGBL cases. Patients with HGBL have a worse prognosis than those with diffuse large B-cell lymphoma. We present a case of RT with rearrangements of
MYC
and
BCL6
. To our knowledge, there are no reported cases of RT with a “double-hit” lymphoma genotype.
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