Division of Medical Oncology, Azienda Ospedaliero Universitaria Consorziale Policlinico di Bari, Bari, Italy.
Department of Interdisciplinary Medicine, School of Medicine, University of Bari "A. Moro", Bari, Italy.
Biochim Biophys Acta Rev Cancer. 2022 Nov;1877(6):188823. doi: 10.1016/j.bbcan.2022.188823. Epub 2022 Oct 12.
Microphthalmia Transcription Factor (MiT) family aberration-associated renal cell carcinoma is a rare disease, whose true prevalence is unknown, due to the need of molecular confirmation, commonly by Fluorescent In Situ Hybridization (FISH), for its diagnosis. In fact, this tumor is commonly misdiagnosed, often labeled as clear cell RCC, papillary RCC and chromophobe RCC. It is typically observed in young patients, and it can have indolent or aggressive behavior. In the case of aggressive behavior, the disease is rapidly progressive, showing little-to-no response to the drugs commonly used to treat the usual types of RCC. In this review, we focus on the biological and pathological features of this neoplasm, their impact on its clinical manifestations and we analyze the few experiences of treatment reported in the literature.
小眼畸形转录因子（MiT）家族相关肾细胞癌是一种罕见疾病，由于需要分子确认，通常通过荧光原位杂交（FISH），因此其真正的患病率尚不清楚。事实上，这种肿瘤常被误诊，通常被标记为透明细胞肾细胞癌、乳头状肾细胞癌和嫌色细胞肾细胞癌。它通常发生在年轻患者中，其行为可以是惰性的，也可以是侵袭性的。在侵袭性行为的情况下，疾病进展迅速，对通常用于治疗常见类型肾细胞癌的药物几乎没有反应。在这篇综述中，我们重点介绍了这种肿瘤的生物学和病理学特征，及其对临床表现的影响，并分析了文献中报道的一些治疗经验。
