Revista Chilena de Estudiantes de Medicina

Multiple gastrointestinal stromal tumors in a young patient: a case report

2024-09-21T20:02:10+00:00

Introduction: Gastrointestinal Stromal Tumors (GIST) are mesenchymal neoplasms originating from the interstitial cells of Cajal. They are rare tumors, mainly occurring in older adults and typically presenting as solitary masses. Diagnosis is confirmed through histopathology and immunohistochemistry (IHC). Mutational analysis is necessary as it carries therapeutic and prognostic implications.

Case presentation: A 24-year-old woman presents with rapidly progressive fatigue, palpitations, orthostatic headache, and sleepiness. Physical examination reveals tachycardia, pallor, and slowed capillary refill. Initial studies show severe microcytic hypochromic anemia and marked iron deficiency. Upper gastrointestinal endoscopy reveals a gastric polyp and a subepithelial lesion. Scans show two gastric lesions and omental nodules. A biopsy of the polyp confirms gastric GIST. Surgical management is decided upon. Genetic testing is performed, ruling out the need for immunotherapy.

Discussion: GISTs are rare mesenchymal neoplasms of the digestive tract, predominantly affecting older adults and usually presenting as solitary masses. The rarity of the case presented above is underscored by the atypical age of onset and the unusual presentation. In this context, mutational analysis becomes crucial to determine the need for long-term treatment and prognosis.

Paraneoplastic myopathy secondary to cholangiocarcinoma: a case report

2024-09-25T03:23:41+00:00

Introduction: Idiopathic inflammatory myopathies (IIM) are a rare group of diseases that mainly manifest with muscle involvement. Their association with neoplasms has been described, especially with gastrointestinal adenocarcinoma, lung and breast cancer. Cholangiocarcinoma (CCA) is a rare neoplasm originating from the epithelial cells of the bile ducts, whose primary manifestation is cholestatic syndrome.

Case presentation: A 74-year-old female has a one-month history of acholia, jaundice, generalized pruritus, significant weight loss, and proximal muscle weakness progressing to prostration. Laboratory findings show a cholestatic pattern with direct hyperbilirubinemia of 16.9 mg/dL; Computed Tomography of the chest, abdomen, and pelvis reveals intrahepatic bile duct dilation and thickening of the extrahepatic bile duct wall; Cholangioresonance describes a suspicious lesion of CCA Bismuth IV. Given the patient's functional status and the level of bile duct involvement, palliative management is initially determined.

Evaluated by Rheumatology due to suspicion of paraneoplastic IIM, further studies include creatine kinase 1257 mg/dL, electromyography showing a myopathic pattern, and a negative myositis panel, ruling out an autoimmune origin. Systemic corticosteroids are started, achieving complete mobility recovery. Due to a favorable evolution, an endobiliary biopsy is performed, confirming cholangiocarcinoma and reaffirming the association between myopathy and neoplasm.

Discussion: The importance of suspecting a paraneoplastic myopathy in patients with active neoplasms and muscle weakness lies in the possibility of optimizing functional status and allowing for broader neoplastic management to improve patients' quality of life.

Death anxiety in oncological disease

2024-12-09T18:36:11+00:00

Death anxiety is a common and significant phenomenon among patients with oncological diseases, but it lacks a distinct diagnosis in International Disease Classifications. The absence of appropriate treatment can adversely impact prognosis, therapeutic adherence, and quality of life. While there is limited evidence concerning the pharmacological treatment of death anxiety, non-pharmacological management is emphasized. This includes meaning-based interventions, which help patients cope with existential issues and loss, and dignity-focused interventions, which promote reflection on life conflicts. In Chile, despite legislative advances, a multidisciplinary approach and the implementation of specific protocols in the field of palliative care are needed to address this issue adequately.

The prophylactic total gastrectomy paradigm in gastric cancer: background to evaluate its therapeutic scope

2024-12-09T01:54:03+00:00

Gastric cancer (GC) is the fifth most common cancer worldwide and stands as the leading cause of cancer-related mortality in men in Chile. Its etiology remains unknown, with identified risk factors including Helicobacter pylori (HP) infection and a family history of GC. Within the spectrum of hereditary gastric cancer (HGC), Hereditary Diffuse Gastric Cancer (HDGC) stands out, characterized by mutations in CDH1 that have been extensively studied. Prophylactic total gastrectomy (PTG) is recognized as the optimal preventive and therapeutic approach for CDH1-related HDGC. However, the first estimate of the cumulative risk of developing CGDH in patients carrying CTNNA1 mutations was recently established, and the possibility of performing PTG has also been raised. Concurrently, multiple other pathogenic genetic variants and factors, such as Amerindian ancestry and HP infection, have been described as significantly elevating the risk of GC development. This review aims to describe the leading genetic causes of GC and HGC, focusing on HDGC, and to present evidence supporting the use of PTG in asymptomatic patients carrying mutations other than CDH1, such as CTNNA1 or presenting a high cumulative risk due to the interaction of CTNNA1 or other pathogenic genetic variants with HP infection and/or the potential risk of their ancestry, encouraging the development of future research to promote this indication.

Thyroid cancer: mortality rate analysis during the period 2017-2021 in Chile

2024-12-26T23:10:49+00:00

Introduction: Thyroid cancer has experienced an increase in its incidence. Studies have suggested that this rise in incidence is due to incidental detection, as well as other environmental, nutritional, and genetic risk factors.

Objective: To describe the mortality rate from thyroid cancer in Chile between the years 2017-2021.

Materials and methods: This is an ecological and descriptive study involving a study population of 746 patients, both male and female, over 15 years of age, whose cause of death was thyroid cancer between the years 2017-2021 in Chile. Data collected from the Department of Statistics and Health Information and the 2017 Census were used to calculate the mortality rate by year, sex, and age group using Microsoft 365 Excel®.

Results: A total of 746 deaths due to thyroid cancer were studied, with a mortality rate of 1.06 per 100.000 inhabitants in the period 2017-2021. The most affected age group was 80 years and older.

Discussion: Thyroid cancer has shown a notable increase in incidence worldwide. The results obtained show a mortality rate higher than that reported by another study in 2020.

Resurgence of the Revista Chilena de Estudiantes de Medicina: the voice of student scientific research

2024-12-26T23:15:28+00:00