Ung thư biểu mô tế bào thận có đột biến TFE3/Xp11.2 báo cáo một trường hợp ở trẻ em và đối chiếu y văn

Journal of Clinical Medicine- Hue Central Hospital ◽

10.38103/jcmhch.2021.74.13 ◽

2021 ◽

Author(s):

Anh Van Nguyen

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Gene Fusion ◽

Histopathological Examination ◽

Left Kidney ◽

Tumor Resection ◽

Translocation Factor ◽

Xp11.2 Translocation ◽

Rare Malignancy

TÓM TẮT Ung thư biểu mô tế bào thận (UTBM) - Renal cell carcinoma là khối u ác tính hiếm gặp, chỉ chiếm 2 - 6% các khối u thận ác tính ở trẻ em. UTBM tế bào thận có đột biến TFE3 trên nhiễm sắc thể Xp11.2 (TFE3/ Xp11.2) là một dưới nhóm của UTBM tế bào thận, thường có tiên lượng nặng hơn các nhóm khác của UTBM tế bào thận. Chúng tôi thông báo một trẻ 10 tuổi vào viện vì đau bụng và phát hiện khối u thận trái. Sau khi phẫu thuật cắt u được làm xét nghiệm mô bệnh học, nhuộm hóa mô miễn dịch TFE3(+), CD10(+), CK7(-) chẩn đoán: UTBM tế bào thận có đột biến TFE3/Xp11.2. Bệnh nhân ổn định, ra viện sau 2 tuần. Tái khám sau hai tháng không phát hiện u tái phát hay di căn. ABSTRACT RENAL CELL CARCINOMA ASSOCIATED WITH XP11.2 TRANSLOCATION FACTORE3 GENE FUSION: A CHILD CASE REPORT AND LITERATURE REVIEW Renal cell carcinoma is a rare malignancy, accounting for only 2 - 6% of renal malignancies in children. Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion is a subgroup of renal cell carcinoma, often with a more severe prognosis than other groups of renal cell carcinoma. We report on a 10 - year - old child was admitted to the hospital because of abdominal painand a left kidney tumor. After tumor resection, histopathological examination, immunohistochemical staining was positive for TFE3, CD10, negative for CK7, diagnosis renal cell carcinoma associated with Xp11.2 translocation factor E3 gene fusion. Two weeks after surgery, the patient was stable and discharged from the hospital. Re - examination after two months did not detect tumor recurrence or metastasis. Key word: Renal cell carcinoma, TFE3, Xp11.2 translocation.

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Renal cell carcinoma associated with Xp11.2 translocation/TFE gene fusion: imaging findings in 21 patients

European Radiology ◽

10.1007/s00330-016-4421-4 ◽

2016 ◽

Vol 27 (2) ◽

pp. 543-552 ◽

Cited By ~ 7

Author(s):

Xiao Chen ◽

Qingqiang Zhu ◽

Baoxin Li ◽

Wenjing Cui ◽

Hao Zhou ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Gene Fusion ◽

Fusion Imaging ◽

Imaging Findings ◽

Xp11.2 Translocation

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MDCT Findings of Renal Cell Carcinoma Associated With Xp11.2 Translocation and TFE3 Gene Fusion and Papillary Renal Cell Carcinoma

American Journal of Roentgenology ◽

10.2214/ajr.14.12950 ◽

2015 ◽

Vol 204 (3) ◽

pp. 542-549 ◽

Cited By ~ 12

Author(s):

Sungmin Woo ◽

Sang Youn Kim ◽

Myoung Seok Lee ◽

Kyung Chul Moon ◽

See Hyung Kim ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Gene Fusion ◽

Papillary Renal Cell Carcinoma ◽

Xp11.2 Translocation

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Temsirolimus in the treatment of renal cell carcinoma associated with Xp11.2 translocation/TFE gene fusion proteins: a case report and review of literature

Rare Tumors ◽

10.4081/rt.2009.e53 ◽

2009 ◽

Vol 1 (2) ◽

pp. 164-166

Author(s):

Jigarkumar Parikh ◽

Teresa Coleman ◽

Nidia Messias ◽

James Brown

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Signaling Pathways ◽

Renal Cell ◽

Gene Fusion ◽

Mammalian Target Of Rapamycin ◽

World Health ◽

Target Of Rapamycin ◽

Tyrosine Kinase Receptor ◽

Xp11.2 Translocation

Xp11.2 translocation renal cell carcinomas (TRCCs) are a rare family of tumors newly recognized by the World Health Organization (WHO) in 2004. These tumors result in the fusion of partner genes to the TFE3 gene located on Xp11.2. They are most common in the pediatric population, but have been recently implicated in adult renal cell carcinoma (RCC) presenting at an early age. TFE3-mediated direct transcriptional upregulation of the Met tyrosine kinase receptor triggers dramatic activation of downstream signaling pathways including the protein kinase B (Akt)/phosphatidylinositol-3 kinase (PI3K) and mammalian target of rapamycin (mTOR) pathways. Temsirolimus is an inhibitor of mammalian target of rapamycin (mTOR) kinase, a component of intracellular signaling pathways involved in the growth and proliferation of malignant cells. Here we present a case of a 22-year old female who has been treated with temsirolimus for her Xp11.2/ TFE3 gene fusion RCC.

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Adult-onset renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

Medicine ◽

10.1097/md.0000000000011023 ◽

2018 ◽

Vol 97 (24) ◽

pp. e11023 ◽

Cited By ~ 1

Author(s):

Pengfeng Gong ◽

Qianfeng Zhuang ◽

Kun Wang ◽

Renfang Xu ◽

Yiming Chen ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Gene Fusion ◽

Adult Onset ◽

Xp11.2 Translocation

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Contrast-enhanced ultrasound findings of adult renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion: comparison with clear cell renal cell carcinoma and papillary renal cell carcinoma

Cancer Imaging ◽

10.1186/s40644-019-0268-7 ◽

2019 ◽

Vol 20 (1) ◽

Author(s):

Shuping Wei ◽

Fuli Tian ◽

Qiuyuan Xia ◽

Pengfei Huang ◽

Yidan Zhang ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Gene Fusion ◽

Clear Cell ◽

Contrast Enhanced Ultrasound ◽

Peak Enhancement ◽

Contrast Enhanced ◽

Cystic Component ◽

Xp11.2 Translocation

Abstract Background To investigate the contrast-enhanced ultrasound (CEUS) findings of renal cell carcinoma (RCC) associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2/TFE3) in adult patients by comparison with those of clear cell RCC (ccRCC) and papillary RCC (pRCC). Methods In total, 110 patients (110 renal masses) who underwent CEUS examinations were enrolled in this study. The cases included 18 Xp11.2/TFE3 RCCs, 60 ccRCCs and 32 pRCCs. All masses were confirmed by operative pathology. The CEUS imaging data of these patients were retrospectively analysed by two readers. The conventional US and CEUS features of Xp11.2/TFE3 RCC were compared with those of ccRCC and pRCC. Results The age of the patients with Xp11.2/TFE3 RCC ranged from 20 to 68 years, with a mean age of 38.3 ± 16.3 years and a slight female predominance. The weighted kappa value that interprets the concordance between the interobserver agreement of the US and CEUS features ranged from 0.61 to 0.89. On conventional US and CEUS imaging of Xp11.2/TFE3 RCCs, the tumours were hypoechoic (6/18, 33.3%), isoechoic (8/18, 44.4%), and hyperechoic (4/18, 22.2%). The cystic component was present in 5 cases (27.8%), calcification was present in 9 cases (50.0%), and colour flow signal was present in 7 cases (38.9%). Most cases showed simultaneous wash-in (11/18, 61.1%); the peak enhancement showed hypoenhancement (6/18, 33.3%), isoenhancement (10/18, 55.6%), and hyperenhancement (2/18, 11.1%); most cases exhibited heterogeneous enhancement (12/18, 66.7%) and fast- or simultaneous-out (16/18, 88.9%); and a pseudocapsule was present in 6 cases (33.3%). In the multivariate logistic regression analysis, calcification and lower peak enhancement were more likely to be present in Xp11.2/TFE3 RCC than in ccRCC (P < 0.05), and younger age and relatively high peak enhancement were more likely to be present in Xp11.2/TFE3 RCC than in pRCC (P < 0.05). The calcification combined peak enhancement model differentiated Xp11.2/TFE3 RCC from ccRCC, and the age combined peak enhancement model differentiated Xp11.2/TFE3 RCC from pRCC with an AUC, a sensitivity and a specificity of 0.896, 94.4% and 73.3% and 0.786, 50.0% and 100.0%, respectively. Conclusions The specific CEUS features combined with demographic information and clinical symptoms may be helpful for differentiating Xp11.2/TFE3 RCC from ccRCC and pRCC.

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Postoperative recurrence of adult renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

Journal of International Medical Research ◽

10.1177/0300060517711358 ◽

2017 ◽

Vol 45 (4) ◽

pp. 1287-1296 ◽

Cited By ~ 1

Author(s):

Zhen Wang ◽

Ning Liu ◽

Weidong Gan ◽

Xiaogong Li ◽

Gutian Zhang ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Gene Fusion ◽

Tnm Classification ◽

Vena Cava ◽

Postoperative Recurrence ◽

Study Cohort ◽

Xp11.2 Translocation

Objective To analyze the postoperative recurrence of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 tRCC). Methods This retrospective study was approved by the institutional review board and performed in accordance with the ethical standards established by the institution. Demographic, clinical, pathological, and follow-up data were compiled for the study cohort. Results During a mean follow-up of 41.3 months (range, 3–104 months), 8 of 34 patients with Xp11.2 tRCC were confirmed to have recurrence. Three of these patients died with poor outcomes due to a vena cava tumor embolus, and one died of distant metastasis 48 months after the initial nephrectomy during which lymph node metastasis was found. Three patients survived after cytoreduction surgery. One patient was diagnosed with lung metastasis 11 months postoperatively. Conclusions The TNM classification provides significant prognostic information for Xp11.2 tRCC. A relatively active surveillance algorithm is recommended, and cytoreduction surgery is an effective approach for recurrent Xp11.2 tRCC. Larger studies are required to more extensively investigate the recurrence of these potentially aggressive tumors.

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