Clinical characteristics of XP11.2 translocation/TFE3 gene fusion renal cell carcinoma: a systematic review and meta-analysis of observational studies

Abstract

BackgroundRenal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 RCC) is a rare subtype of RCC which is firstly described as a distinct entity in 2004 so that clinical characteristics of Xp11.2 RCC in different gender and age are unknown. The purpose of systematic review and meta-analysis is to provide a comprehensive assessment on them.MethodsMEDLINE, EMBASE and Cochrane databases were searched for studies which evaluate the clinical characteristics of Xp11.2 RCC. The literature published between July 2004 and May 2014 was searched.ResultsA total of 15 studies with 147 participants were included. The meta-analysis demonstrated that number of patients of all age in female was higher than in male with pooled OR of 3.93(95 % CI = 1.66–9.34). However, incidence of distant metastases (OR = 0.34, 95 % CI = 0.12–1.57) and lymphatic metastases (OR = 0.51, 95 % CI = 0.14–1.91), tumor stage (OR = 0.85, 95 % CI = 0.34–2.15) and overall survival (OS) (OR = 0.46, 95 % CI = 0.05–4.34) between male and female were comparable. Incidence in female was higher than in male with pooled OR of 5.13(95 % CI = 1.67–15.72) in adults, while in children no gender-related predominance (OR = 1.19, 95 % CI = 0.38–3.72) was observed. In addition, incidence of distant metastases (OR = 1.00, 95 % CI = 0.13–7.84) and lymphatic metastases (OR = 1.00, 95 % CI = 0.07–13.67) and tumor stage (OR = 1.94, 95 % CI = 0.20–19.03) between children and adults were comparable. Survival curves presented comparable outcomes between male and female (P = 0.707) as well as between children and adults (P = 0.383).ConclusionsFemale patients with Xp11.2 RCC in adults exhibit a high incidence compared to male, but not in children. Comparable clinical characteristics including incidence of distant and lymphatic metastases, tumor stage and prognosis is presented between male and female as well as between children and adults.

Preoperative Plasma Fibrinogen: An Independent Predictor for Survival in Adult Patients with Xp11.2 Translocation Renal Cell Carcinoma

“…This result was consistent with another Asian cohort [5] (0.72% in Korea) which further demonstrated the rarity of this disease in adults. Although a prior meta-analysis suggested a female gender predominance in adult XP11.2 translocation RCC [13] , possibly due to its X-chromosome related nature, our study found an equal gender distribution as observed in children which might be explained by the absence of translocation on the Barr body (inactive X chromosome) or by the relatively small number of patients enrolled. Moreover, consistent with previous reports [7,18] and for unknown reasons, right side prevalence was observed in our cohort.…”

“…XP11.2 translocation RCC accounts for 20-40% of pediatric RCC [13] and only 0.72-1.6% of adult RCC [5,14] . This subtype of RCC in adults requires special attention and more intensive researches for its rarity, aggressiveness in nature [3,13] and possible different treatment options (eg. m-TOR inhibitors or VEGFtargeted agents) [16,17] .…”

Comparative Clinicopathologic Characteristics and Outcomes of Paediatric and Adult Xp11 Translocation Renal Cell Carcinomas: a Retrospective Multicentre Study in China

“…In addition, our study inferred that the incidence of female Xp11 translocation RCCs in the adult group was significantly higher than that in the male group, as it is a rare malignant tumour in the urinary system with a higher incidence in females. Meta-analysis confirmed that females were more predominant than males in adult patients, while in children, no sex-related predominance was observed 13 . However, further exploration is still essential to understand why there is an age-related difference in incidence and a high incidence in adult female patients.…”

“…In addition, the natural history of the disease is variable between children and adults based on clinical experience. Meta-analysis showed that clinical characteristics between children and adults were distinctive, including the incidence of lymphatic metastases, tumour stage and prognosis 13 . In view of the lack of a large sample size and longer follow-up for this relatively recent category of tumours, we grouped five urological cancer research institutes together to compare the clinicopathologic features and outcomes in patients with paediatric and adult Xp11 translocation RCCs.…”

Preoperative Plasma Fibrinogen Level: An Independent Predictor for Survival in Adult Patients With Xp11.2 Translocation Renal Cell Carcinoma

“…XP11.2 RCC accounts for 20 -40% of pediatric RCC [13] and only 0.72-1.6% of adult RCC [5,14] . This subtype of RCC in adults requires special attention and more intensive researches for its rarity, aggressiveness in nature [3,13] and possible different treatment options (eg. m-TOR inhibitors or VEGFtargeted agents) [16,17] .…”