RESUMEN
An increase in the incidence of melanoma has been observed in recent decades, which poses a significant challenge due to its poor prognosis in the advanced and metastatic stages. Previously, chemotherapy and high doses of interleukin-2 were available treatments for melanoma; however, they offered limited survival benefits and were associated with severe toxicities. The treatment of metastatic melanoma has been transformed by new developments in immunotherapy. Immune checkpoint inhibitors (ICIs), monoclonal antibodies that target cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4), programmed cell death protein 1 (PD-1) and its ligand, PDL-1, have emerged as promising therapeutic options. Commonly used ICIs, such as ipilimumab, nivolumab and pembrolizumab, have been found to be associated with an improved median overall survival, recurrence-free survival and response rates compared to traditional chemotherapies. Combination therapies involving different types of ICIs, such as anti-PD1 with anti-CTLA-4, have further enhanced the overall survival and response rates by targeting various phases of T-cell activation. Additionally, the development of novel biomarkers has facilitated the assessment of responses to ICI therapy, with tissue and serum-based prognostic and predictive biomarkers now available. The increased response observed with ICIs also provides potential for immune-related adverse effects on various organ systems. Further research is required to evaluate the efficacy and safety of various combinations of ICIs, while ongoing clinical trials explore the potential of newer ICIs. Concerns regarding the development of resistance to ICIs also warrant attention. The present review summarizes and discusses the advent of ICIs with a marked significant breakthrough in the treatment of metastatic melanoma, providing improved outcomes compared to traditional therapies.
RESUMEN
Hematological disorders pose a diagnostic challenge due to overlapping clinical features, as demonstrated by the difficulty in differentiating between aplastic anemia (AA) and primary myelofibrosis (PM). Myeloproliferative disorders, characterized by aberrant proliferation of bone marrow stem cells, present complexities in diagnosis, often requiring a comprehensive evaluation to distinguish between disorders with similar manifestations. The distinctions between myelofibrosis and AA lie not only in clinical presentations but also in genetic and molecular markers, necessitating a nuanced diagnostic approach. We present a case of a 37-year-old male initially diagnosed with myelofibrosis based on a history of pancytopenia, warm submandibular and submental swelling, and negative BCR-ABL and JAK2 mutations. Further examination revealed empty fragmented cells, hypoplastic bone marrow, and suppressed erythropoiesis and myelopoiesis. Subsequent core biopsy showed increased megakaryocytes, prompting a revised diagnosis of AA. This case underscores the importance of a meticulous diagnostic journey, incorporating physical examination, genetic testing, and advanced imaging to unravel the complexities of hematological disorders. The intricacies of this case prompt a reevaluation of diagnostic paradigms, highlighting the limitations of relying solely on specific mutations for diagnosis. The absence of BCR-ABL and JAK2 mutations in AA raises questions about its genetic landscape, necessitating further exploration. Immunological considerations, given the immune-mediated nature of AA, provide a foundation for future research into immune dysregulation and potential therapeutic interventions. The clinical management challenges posed by AA underscore the need for personalized treatment strategies, guided by a deeper understanding of its underlying pathophysiology. Advanced imaging techniques, in conjunction with traditional diagnostic methods, emerge as crucial tools for enhancing diagnostic accuracy in hematological disorders. This case serves as a paradigm for ongoing medical education, multidisciplinary collaboration, and innovative approaches in the evolving landscape of hematology, emphasizing the imperative for continuous refinement in diagnostic strategies and patient care.
RESUMEN
An ossifying fibromyxoid tumor is a soft tissue neoplasm with ambiguous differentiation and low metastatic potential. Most cases involve the lower extremities, followed by the trunk, the upper extremities, and the head and neck region. It mainly arises in 40-70 years of age, and men dominate the disease's gender distribution. In the described types of ossifying fibromyxoid tumors, there are three variants: one is benign (typical), the second is malignant, which carries the risk of disease recurrence or metastases, and the third is atypical, which does not meet the criteria of either typical or malignant. Here, we present an interesting case of a malignant ossifying fibromyxoid tumor of the chest wall that metastasized to the lungs even after complete resection of the primary tumor. A 64-year-old man had a 4.0 cm malignant ossifying fibromyxoid tumor in his chest wall two years ago, and at that time, the tumor was removed entirely. On pathology review, it was noted to have 20 mitotic figures per 50 high-power fields, but no actual grade was given. He was given postoperative radiation. His recent computed tomography (CT) chest with contrast showed a new right upper lung lobe nodule measuring 0.78 cm compared to the previous contrast-enhanced CT chest six months ago. It was worrisome for metastasis. F-18 FDG positron emission tomography scan revealed sub-centimetric pulmonary nodules in the right upper lobe. Right upper lobe lung biopsy showed spindle cell neoplasm morphologically consistent with the patient's known history of malignant ossifying fibromyxoid tumor. Biopsy demonstrated fragments of the bronchial wall and alveolated lung parenchyma with a focal spindle cell proliferation demonstrating a fibromyxoid matrix. The patient was referred to the oncologist for further management. In conclusion, aggressive malignant ossifying fibromyxoid tumors can be found in atypical locations, e.g., the chest wall. Therefore, early diagnosis is crucial because of the high chances of metastasis to distant organs (including the lung) even after complete resection of the primary tumor. Even in asymptomatic patients, it is necessary to complete long-term follow-up for recurrence and metastasis surveillance of ossifying fibromyxoid tumors. Early recognition of recurrence or metastasis can decrease morbidity and mortality and improve overall organ function and patient survival.
RESUMEN
COVID-19 usually presents with classic signs and symptoms, but it can involve multiple systems in atypical cases. SARS-CoV-2 has a complex interaction with the host immune system leading to atypical manifestations. In our case, a 32-year-old male patient presented with fatigue, sores on hands and feet, headache, productive cough with blood-tinged mucus, conjunctival hyperemia, purpuric rash on hands and feet, and splinter hemorrhages of fingernails for 2 weeks. The patient's SARS-CoV-2 antigen and PCR test were positive. Chest X-ray showed mixed density perihilar opacities in both lungs. Computed tomography of the chest showed extensive airspace opacities in both lungs, suggesting COVID-19 multifocal, multilobar pneumonitis. A renal biopsy indicated limited thrombotic microangiopathy and tubulointerstitial nephritis, for which he was started on steroids, and his renal functions gradually improved. He tested positive for C-ANCA during an immune workup. He was discharged with a steroid taper for nephritis. Once the taper reached less than 10 mg/day, he developed acute scleritis and a new pulmonary cavitary lesion of 6 cm. The biopsy via bronchoscopy revealed acute inflammatory cells with hemosiderin-laden macrophages. He was restarted on systemic steroids for scleritis after failing topical steroids, which incidentally also reduced the size of the cavitary lesion, indicating an immune component. Our case demonstrates the involvement of kidneys and vasculitis of the skin, sclera, and lungs by COVID-19. The patient's symptoms were not explained by any diseases other than COVID-19. Atypical cases of COVID-19 disease with multifocal systemic symptoms involving the skin, sclera, lungs, and kidneys should be high on differentials. Early recognition and intervention may decrease hospital stays and morbidity.
