PDF(Pubmed)
Abstract：
Testicular myeloid sarcoma (TMS) is a challenging pathology often posing diagnostic difficulties due to the poorly differentiated nature of tumor cells at the initial presentation. The delay in diagnosis significantly impacts patient life expectancy, emphasizing the need for prompt identification and treatment initiation. In certain cases, the presence of the Fms-like tyrosine kinase (FLT3) mutation adds complexity to the disease, requiring tailored therapeutic approaches. In this report, we present a unique case of bilateral TMS with FLT3 tyrosine kinase domain (TKD) mutation. The patient exhibited an aggressive clinical course, initially misdiagnosed with orchitis during the initial evaluation. Subsequent reevaluation of the testicular biopsy at a second center led to an accurate diagnosis, highlighting the importance of thorough examination in challenging cases. Given the emerging significance of FLT3 mutations in myeloid sarcomas, comprehensive testing for all FLT3 variants is crucial to determine the appropriate treatment modality. This case underscores the need for increased awareness among healthcare professionals regarding the diagnostic nuances and potential genetic variations associated with TMS. Furthermore, the inclusion of tyrosine kinase inhibitors, such as midostaurin or gilteritinib, especially in the presence of FLT3 mutations, may significantly impact treatment outcomes. This report contributes to the growing body of literature on TMS and highlights the importance of considering FLT3 mutations in the diagnostic and therapeutic decision-making process for improved patient care.
摘要：
睾丸髓样肉瘤（TMS）是一种具有挑战性的病理学，通常由于肿瘤细胞在最初表现时的低分化性质而造成诊断困难。诊断延迟会显著影响患者的预期寿命，强调需要及时识别和开始治疗。在某些情况下,Fms样酪氨酸激酶（FLT3）突变的存在增加了疾病的复杂性，需要量身定制的治疗方法。在这份报告中,我们介绍了1例具有FLT3酪氨酸激酶结构域(TKD)突变的双侧TMS的独特病例.患者表现出积极的临床过程，在初步评估期间最初误诊为睾丸炎。随后在第二个中心重新评估睾丸活检导致了准确的诊断，强调在具有挑战性的情况下进行彻底检查的重要性。鉴于FLT3突变在骨髓肉瘤中的重要性，对所有FLT3变异体进行全面检测对于确定合适的治疗方式至关重要.这一案例强调了医疗保健专业人员对TMS相关的诊断细微差别和潜在遗传变异的认识。此外，包括酪氨酸激酶抑制剂，如midostaurin或gilteritinib，特别是在存在FLT3突变的情况下，可能会显著影响治疗结果。该报告为越来越多的TMS文献做出了贡献，并强调了在诊断和治疗决策过程中考虑FLT3突变以改善患者护理的重要性。
