Abstract:
Fumarate hydratase deficient renal cell carcinoma (FHRCC) can exhibit a heterogenous immunoprofile. In the present case, a solitary 10.5 cm mixed cystic and solid left kidney tumor showed various growth patterns, involving renal sinus adipose tissue and the renal pelvis. Tumor cells showed prominent nucleoli and perinucleolar halos. Aberrant diffuse (>90%), strong, and membranous carbonic anhydrase 9 and variable GATA3 expression were present. Diagnostic loss of fumarate hydratase expression and 2-succinyl cysteine overexpression (cytoplasmic and nuclear) were identified. Carbonic anhydrase 9 and GATA3 expression in FHRCC is rarely reported in the literature, and may cause misdiagnosis of clear cell RCC and/or urothelial carcinoma.
摘要:
富马酸水合酶缺陷型肾细胞癌(FHRCC)可表现出异质性免疫特征。在目前的情况下,一个单独的10.5厘米的囊性和实性混合的左肾肿瘤显示出不同的生长模式,累及肾窦脂肪组织和肾盂。肿瘤细胞显示突出的核仁和核仁周围晕。弥散异常(>90%),坚强,存在膜碳酸酐酶9和可变的GATA3表达。鉴定了富马酸水合酶表达和2-琥珀酰半胱氨酸过表达(细胞质和细胞核)的诊断损失。碳酸酐酶9和GATA3在FHRCC中的表达在文献中很少报道,并可能导致透明细胞肾细胞癌和/或尿路上皮癌的误诊。