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Circulating tumour DNA (ctDNA) is defined as short DNA sequences shed by tumour cells into the systemic circulation. A promising use of ctDNA includes the detection of minimal residual disease (MRD) and is currently being studied in multiple types of solid tumours. Literature for the use of individualised ctDNA in nasopharyngeal carcinoma (NPC) is not available, although circulating Epstein-Barr virus DNA level is validated as a prognostic factor. We present a man in his 40s diagnosed with stage IV NPC who was started on chemotherapy with cis-platinum and gemcitabine. Serial monitoring of ctDNA completed to aid in detecting MRD after treatment demonstrated initial up-trending values correlating with subsequent imaging findings showing progression. Reinitiation of a different chemotherapy regimen significantly improved the ctDNA level, with corresponding imaging exhibiting a similar response. This case provides insight into the potential use of ctDNA in NPC and the benefit of serial ctDNA monitoring during treatment.

Thrombotic thrombocytopenic purpura (TTP) is a type of thrombotic microangiopathy that is characterized by microangiopathic haemolytic anaemia, consumption thrombocytopenia and organ injury. It is caused by a severe deficiency of ADAMTS13, which can be either congenital or acquired. There is a plethora of things that can cause the acquired form, including medications and infections. Vaccines have also been shown to cause TTP. In the midst of the COVID-19 pandemic, with multiple new vaccines being developed and distributed to the masses, the medical community needs to be aware of adverse events associated with these new vaccines. We present a case of TTP following administration of the Moderna booster vaccine.

Catastrophic antiphospholipid syndrome (CAPS) is a rare but severe form of antiphospholipid syndrome (APS). The syndrome manifests itself as a rapidly progressive multiorgan failure that is believed to be caused by widespread micro-thrombosis. Seldom does bleeding comanifest with thrombosis. We present a patient with APS who presented with nausea, vomiting and fatigue, and rapidly progressed into multiorgan failure before being diagnosed with CAPS. The clinical course was complicated by an atraumatic intracranial haemorrhage which demanded discontinuation of anticoagulation. The patient was treated with high dose steroid, intravenous immunoglobulin, followed by weekly rituximab infusion. Although the trigger for CAPS was not obvious during her hospital stay, she was diagnosed with acute cytomegalovirus (CMV) infection soon after discharge. In this case report, we explore the differential diagnoses of CAPS, investigate the possibility of CMV infection as a potential trigger, present the therapeutic challenges of anticoagulation and discuss the emerging use of rituximab.

Xp11.2 translocation renal cell carcinoma (TRCC) is a rare and aggressive variant of renal cell carcinoma (RCC) when presenting in adults. We report a case of a man in his early 40s who was diagnosed with stage III Xp11.2 TRCC and underwent radical nephrectomy. Seven months following the surgery, an adrenal nodule and bilateral pulmonary nodules were discovered. He underwent cryoablation of the adrenal nodule and systemic treatment with daily pazopanib. He displayed stable disease for approximately 6 years. Following this period, multiple hospitalisations interrupted daily pazopanib therapy resulting in progression of disease. His regimen was then changed to ipilimumab and nivolumab, followed by current daily therapy with axitinib. The patient now shows stable disease in his 10th year after diagnosis. This case study demonstrates the efficacy of pazopanib for metastatic Xp11.2 TRCC and warrants further investigation to supplement the guidelines regarding the use of targeted therapy for TRCC.

A patient with a diagnosis of myelodysplastic syndrome (MDS) with isolated 5q deletion underwent repeat bone marrow biopsy to assess haematological response after 6 months of initial lenalidomide therapy. Subsequent bone marrow biopsies revealed persistent MDS with del(5q) in addition to a small atypical mast cell population with >25% of mast cells with spindle-shaped morphology and immunohistochemistry characteristics consistent with mastocytosis. Molecular testing on the bone marrow was positive for cKIT D816V and the patient was diagnosed with systemic mastocytosis (SM) with an associated haematological neoplasm. MDS with SM is well known to be associated; however, to the best of our knowledge, only one prior case report identifies MDS with del(5q) and associated cKIT D816V positive mastocytosis. While the exact clonal origin of both chromosomal aberrations is unclear, this case illustrates the therapeutic efficacy of lenalidomide in a patient with MDS with del(5q) and rarely associated cKIT positive SM.

A 46-year-old man with a long-standing history of Crohn’s disease who was treated with multiple therapies over a period of 9 years presented with oral lesions which on biopsy demonstrated peripheral T-cell lymphoma. Initially, the development of T-cell lymphoma was presumed to be secondary to prolonged immunosuppression but it did not respond to withholding immunosuppressive therapy. On treatment with CHOP (cyclophosphamide, hydroxydaunorubicin, oncovin and prednisone) chemotherapy, complete remission was achieved. Although development of malignancies in the immune-suppressed patient with Crohn9s disease has been previously described but we present a rare case of T-cell lymphoma in a similar patient, which has not been reported before.