RESUMEN
Triple-negative breast cancer is the most aggressive subtype of mammary carcinoma. In the early stage, neoadjuvant chemotherapy (NAC) is the standard of care for prognostic stratification and the best adjuvant treatment strategy. A 30-year-old female presented in the emergency room because of a gigantic right breast associated with an ulcerated lump at the upper quadrants. The right axillary nodes were palpable. An ultrasound was performed, showing the ulcerated neoformation with enlarged right axillary lymph nodes observed to level III. A core biopsy of the breast lesion was performed, and the pathological examination revealed a nonspecial type, grade 3, invasive, triple-negative breast cancer. No distant disease was found in the PET-CT scan. A germline genetic panel by next-generation sequencing identified a likely pathogenic variant in RAD51D (c.898C>T). Assessment of the functionality of the DNA homologous recombination repair pathway by RAD51 foci in the tumor revealed a profile of homologous recombination deficiency. NAC consisting of weekly carboplatin and paclitaxel followed by dose-dense doxorubicin/cyclophosphamide was performed with a complete metabolic response achieved in the PET-CT scan. The patient underwent a modified radical mastectomy plus axillary lymphadenectomy with a pathological complete response in the breast and axilla and remains disease-free after 2 years of follow-up. We report a young female with a triple-negative breast cancer stage cT4bN3M0 and a hereditary pathogenic mutation in RAD51D. The tumor was highly proliferative and homologous recombination-deficient by RAD51. The patient received platinum-based NAC, achieving a pathologic complete response. More effort should be made to identify predictive functional biomarkers of treatment response, such as RAD51 foci, for platinum sensitivity.
RESUMEN
BACKGROUND: Metastatic small bowel low-grade neuroendocrine tumors (NETs) have a good prognosis. Surgery is the only curative treatment; however, this may induce advanced liver disease, particularly in long-term survivor patients. Acquired hepatocerebral degeneration or Parkinsonism in cirrhosis is characterized by rapidly progressive extrapyramidal symptoms in patients with advanced liver disease. CASE SUMMARY: A 70-year-old man presented to the emergency department with diminished consciousness and disorientation, and was diagnosed with hepatic encephalopathy. The patient was diagnosed in 1993 with a metastatic small bowel NET, for which he twice underwent hepatic surgery, with metastatic resection in 1993 and a right hepatectomy in 2002 to remove two hepatic metastases. In 2003, the patient started first-line chemotherapy and in 2004 started the first of three consecutive biological treatments, followed by radio-molecular therapy, achieving stable disease for 14 years. Disease progression was identified and he underwent an endoscopic retrograde cholangiopancreatography. However, in 2019 advanced liver disease was identified. We diagnosed the development of acquired hepatocerebral degeneration, an unusual long-term side effect after multiple hepatic procedures. CONCLUSION: The importance of regular and ongoing surveillance in long-term NET survivors who undergo hepatic procedures should be integrated into the therapeutic management plan, as some of these negative outcomes could be prevented.
RESUMEN
BACKGROUND: Hepatocellular carcinoma (HCC) is the most important primary malignant liver disease. A large proportion of patients with advanced HCC have macrovascular invasion. HCC tends to infiltrate vascular structures, particularly the portal vein and its branches, and more rarely, the hepatic veins. The intravascular tumor thrombus can affect the inferior vena cava (IVC) or even the right atrium (RA), the latter having a poor prognosis. CASE SUMMARY: HCC is one of the most aggressive malignant tumors. Tumor thrombus (TT) formation in advanced HCC stages is common and usually involves the hepatic or portal veins. Herein, we report a 69-year-old woman who presented with dyspnea to the emergency department. A ventilation/perfusion lung scan was performed, ruling out pulmonary embolism. Hepatopulmonary syndrome and portopulmonary hypertension were discarded with contrasted echocardiography, but a mass in the RA was detected and confirmed by cardiac magnetic resonance imaging. Abdominal computed tomography showed a liver mass with a dynamic enhancement pattern compatible with HCC and an intraluminal IVC mass extending from the hepatic vein into the RA. HCC with TT expansion to IVC and RA is rare and indicates poor prognosis. CONCLUSION: HCC with TT expansion to IVC and RA is rare and indicates poor prognosis. There is no consensus about anticoagulation or other interventions in these patients.
RESUMEN
Objetivo Describir la evidencia que existe en la actualidad acerca del uso del antibiótico profiláctico en el manejo conservador del trauma renal. Material y métodos Decidimos realizar una revisión de la literatura para intentar resolver la controversia existente acerca de la efectividad del uso de antibiótico profiláctico en pacientes con trauma renal para prevenir complicaciones infecciosas. Resultados El trauma renal es un problema importante en los servicios de urgencias en el mundo. La mayoría corresponden a traumatismos cerrados y principalmente a accidentes de tránsito, aunque pueden ser secundarios a un trauma penetrante. Los abscesos perirrenales son poco frecuentes, se estima que ocurren en menos del 1% de todos los casos de trauma renal y en aproximadamente 5% de los casos de trauma renal penetrante. Dada la baja incidencia de abscesos perirrenales y las diferentes corrientes existe controversia para el tratamiento antibiótico. El manejo es conservador en la mayoría de los casos, y depende del grado de la lesión, el compromiso vascular y el estado hemodinámico del paciente. Conclusión Aún no existe claridad acerca de la utilización de antibiótico profiláctico en el manejo conservador del paciente con un traumatismo renal, relacionado con el tipo de trauma y el grado de la lesión. Sugerimos el uso de antibiótico profiláctico en pacientes con trauma penetrante grado IV dada la mezcla de ambiente externo, cuerpo extraño y orina, sin embargo, no hay evidencia de alta calidad al respecto.
Objective To describe the current evidence on the use of the prophylactic antibiotic in the conservative management of renal trauma. Materials and Methods We decided to review the general and updated literature to try to solve the controversy about the effectiveness of the use of antibiotic prophylaxis in patients with renal trauma to prevent infectious complications. Results Renal trauma is an important trauma in emergency services around the world. Most of them are blunt and mainly because of transit accidents, although they could be due to penetrating trauma. Perirenal abscesses are uncommon, it is estimated that occur in less than 1% of all cases of renal trauma and â¼5% of cases of penetrating renal trauma. Given the low incidence of perirenal abscesses and different streams, controversy exists for antibiotic treatment. Conservative management is the preferred choice, normally according to the grade of the trauma, the vascular compromise and the patientÌs hemodynamic response. Conclusion There is still no consensus about the use of prophylaxis antibiotics in conservative management of patients with renal trauma, related to type and the grade of trauma. We suggest the use of a prophylactic antibiotic in patients with grade IV penetrating trauma given the mixture of external environment, foreign body and urine, however there is no evidence of high quality on this regard.
