关键词: SMARCB1 (INI) fine-needle aspiration pediatrics renal medullary carcinoma sickle cell trait

Mesh : Humans Male Adolescent Carcinoma, Medullary / diagnosis pathology therapy Carcinoma, Renal Cell / pathology Kidney Neoplasms / diagnostic imaging pathology Kidney / diagnostic imaging pathology Biopsy

来  源:   DOI:10.1002/jcla.24854

Abstract:
BACKGROUND: Renal medullary carcinoma (RMC) is a diagnostically challenging, aggressive primary renal malignancy associated with abysmal survival. Delays in diagnosis contribute to most patients having diffusely metastatic disease at the time of initial presentation.
METHODS: We present the case of a 13-year-old African American male with sickle cell trait who presented with a renal mass and hematuria. Evaluation included imaging, fluid cultures, and cytologic assessment.
RESULTS: Patient was diagnosed with RMC based on cytologic assessment of sub-centimeter fluid collections aspirated from the left kidney at the time of cortical biopsy for suspected renal mass. The additional fluid aspiration in conjunction with renal biopsy was an atypical but crucial step in early diagnosis.
CONCLUSIONS: Cytomorphologic evaluation of fluid biospecimens is not currently part of the standard work-up for patients with renal masses but, when available, can provide crucial information that reduces time to diagnosis. Prompt symptom recognition and treatment initiation may improve patient outcomes.
摘要:
背景:肾髓样癌(RMC)在诊断上具有挑战性,侵袭性原发性肾脏恶性肿瘤与不良生存率相关。诊断延迟导致大多数患者在初次就诊时患有弥漫性转移性疾病。
方法:我们介绍了一名13岁的非洲裔美国男性,其镰状细胞特征表现为肾脏肿块和血尿。评估包括影像学,流体培养物,和细胞学评估。
结果:患者根据在皮质活检时从左肾吸出亚厘米液体的细胞学评估被诊断为RMC,怀疑有肾脏肿块。在早期诊断中,额外的液体抽吸与肾活检是非典型但至关重要的步骤。
结论:流体生物标本的细胞形态学评估目前不是肾肿块患者的标准检查的一部分,但是,当可用时,可以提供关键信息,缩短诊断时间。及时识别症状和开始治疗可能会改善患者的预后。
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