Programmed cell death protein 1 (PD-1) is a receptor found on T cells, and when bound with its ligand PD-L1 or PD-L2, it negatively regulates T cells. Certain tumors, such as squamous non-small cell lung cancer and melanoma, evade T cell immune surveillance by upregulating PD-1 ligands. Blockade of PD-1 and its ligand can restore T cell-mediated tumor suppression (1).
Follicular lymphoma is the second most common subtype of non-Hodgkin's lymphoma affecting adults. Clinically, follicular lymphoma is generally indolent, most often presenting as a painless peripheral lymphadenopathy; however, a leucocytosis at presentation is exceedingly rare. We present the case of a 63-year-old woman with follicular lymphoma with a presenting hyperleucocytosis at diagnosis of 1 327 000/μL demonstrated on laboratory analysis work while hospitalised for progressive weakness. fluorescence in situ hybridization (FISH) panel was consistent with follicular lymphoma, which was positive for B-cell leukaemia/lymphoma 2 and negative for MYC Proto-Oncogene. Cytoreduction with rituximab-containing therapy was initiated, with the patient ultimately expiring. A leukaemic phase at presentation appears to be associated with poor outcome. The findings from our case, in addition to others, have potential implications in regard to prognostic utility. The current prognostic tool used to estimate overall survival for follicular lymphoma, Follicular Lymphoma International Prognostic Index, does not take leucocytosis into account.
Hereditary hyperferritinemia and cataracts syndrome (HHCS) without iron overload is a syndrome first identified less than 3 decades ago. While investigators have dissected the gene where several responsible mutations reside, it remains a relatively unknown genetic disorder to clinicians. The result is often an expensive, invasive evaluation for iron overload, followed by a well-intended prescription for a series of phlebotomies that delivers morbidity instead of benefit. We present a father with an elevated ferritin and heterozygosity for H63D HFE mutation whose clinical course followed this path. His treatment rendered him symptomatic from iron deficiency with no reduction in his ferritin. On re-evaluation, a review of his past medical history clarified the cataract surgery noted in his record had occurred at a young age. Furthermore, one of his daughters required cataract surgery as a teenager. With this information, we strongly suspected HHCS. His phlebotomies were discontinued, and within weeks, his iatrogenic iron deficiency resolved and his health returned to normal.
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