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
Diagnosing small bowel cancer has been challenging due to its unusual presentation and inaccessibility on endoscopy. A 41-year-old male with a history of irritable bowel syndrome underwent esophagogastroduodenoscopy (EGD) for worsening fatigue and lightheadedness despite iron supplements therapy for low hemoglobin. Initial upper endoscopy showed esophagitis and non-bleeding duodenal bulb ulcer with exudate. Endoscopic ultrasound (EUS) with fine-needle aspiration was done due to persistent concern of malignancy and demonstrated moderately differentiated adenocarcinoma in the second portion of the duodenum. Endoscopic ultrasound with fine-needle aspiration may be a superior approach to diagnosing duodenal carcinoma than EGD alone. Small bowel cancer can be a part of the tumor spectrum of Lynch syndrome. Duodenal adenocarcinomas present at a late stage and portend a poor prognosis. We present a case of duodenal adenocarcinoma in an otherwise healthy individual emphasizing the importance of malignancy in the differential and genetic counseling in individuals with the family risk factor.
