RESUMEN
INTRODUCTION: Neurotrophic receptor tyrosine kinase fusions cause overexpression or activation of kinase and are believed to confer oncogenic potential in some non-rhabdomyosarcoma soft tissue sarcomas. TRK inhibitors have recently been shown to induce responses in these tumours though current experience with these agents is still limited. CASE REPORT: We report a case of an adolescent with treatment-refractory non-rhabdomyosarcoma soft tissue sarcomas, carrying a novel DCTN1-NTRK1 gene fusion whose progressive disease was treated with multi-kinase and TRK inhibitors.Management and outcome: Our patient was started on pan-TRK inhibitor larotrectinib, as his disease progressed after chemotherapy, radiation therapy and surgery, based on next-generation sequencing test showing DCTN1-NTRK1 gene fusion. He responded quickly to larotrectinib with the improvement of symptoms and reduction of masses. However, this response was short-lived due to the development of acquired solvent front resistance mutation. This patient did not respond to next-generation TRK inhibitor selitrectinib and eventually succumbed to his disease. DISCUSSION: The initial rapid and drastic response of our patient to larotrectinib was not sustained due to the development of acquired resistance. This case emphasizes the need for upfront and periodic next-generation sequencing testing to guide treatment of patients with refractory non-rhabdomyosarcoma soft tissue sarcomas.
Asunto(s)
Antineoplásicos/uso terapéutico , Compuestos Aza/uso terapéutico , Complejo Dinactina/genética , Proteínas de Fusión Oncogénica/genética , Inhibidores de Proteínas Quinasas/uso terapéutico , Pirazoles/uso terapéutico , Pirimidinas/uso terapéutico , Receptor trkA/genética , Sarcoma/tratamiento farmacológico , Neoplasias de los Tejidos Blandos/tratamiento farmacológico , Adolescente , Terapia Combinada , Resistencia a Antineoplásicos/genética , Resultado Fatal , Humanos , Imagen por Resonancia Magnética , Masculino , Sarcoma/genética , Neoplasias de los Tejidos Blandos/genética , Resultado del TratamientoRESUMEN
The underlying etiologies of paediatric bowel obstruction are wide ranging. It can be divided into proximal and distal bowel obstruction. Amongst the different etiologies of the proximal bowel obstructions at the level of the duodenum, there are a few etiologies including duodenal atresia, internal hernias, intestinal malrotation, annular pancreas etc. Superior mesenteric artery syndrome is amongst one of these differential diagnoses which is more prevalent in the adolescent age group. We describe the imaging features of this entity and its demographics, imaging characteristics, treatment and prognosis.
