MED15::TFE3 fusion renal cell carcinoma with extensive cystic change: A clinicopathologic and molecular genetic study of 2 cases, with an emphasis on differential diagnosis
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作者:
Yin, Xiaona
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Ningbo Clin Pathol Diag Ctr, Ningbo, Peoples R ChinaNingbo Clin Pathol Diag Ctr, Ningbo, Peoples R China
Yin, Xiaona
[1
]
Hu, Xingen
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Hangzhou Med Coll, Zhejiang Prov Peoples Hosp, Canc Ctr, Dept Pathol,Peoples Hosp, Hangzhou, Peoples R ChinaNingbo Clin Pathol Diag Ctr, Ningbo, Peoples R China
Hu, Xingen
[2
]
Xu, Jiayun
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Ningbo Clin Pathol Diag Ctr, Ningbo, Peoples R ChinaNingbo Clin Pathol Diag Ctr, Ningbo, Peoples R China
Xu, Jiayun
[1
]
Xiong, Danting
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Soochow Univ, Hosp 4, Dept Pathol, Suzhou, Peoples R ChinaNingbo Clin Pathol Diag Ctr, Ningbo, Peoples R China
Xiong, Danting
[3
]
Zhao, Ming
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Ningbo Clin Pathol Diag Ctr, Ningbo, Peoples R ChinaNingbo Clin Pathol Diag Ctr, Ningbo, Peoples R China
Zhao, Ming
[1
]
机构:
[1] Ningbo Clin Pathol Diag Ctr, Ningbo, Peoples R China
[2] Hangzhou Med Coll, Zhejiang Prov Peoples Hosp, Canc Ctr, Dept Pathol,Peoples Hosp, Hangzhou, Peoples R China
[3] Soochow Univ, Hosp 4, Dept Pathol, Suzhou, Peoples R China
Objectives TFE3-rearranged renal cell carcinomas (RCCs) harbor gene fusions between TFE3 and 1 of many partner genes. MED15::TFE3 fusion RCC is rare, often cystic, and easily misdiagnosed.Methods This study aimed to characterize 2 cases of MED15::TFE3 fusion RCC with extensive cystic change using fluorescence in situ hybridization and targeted RNA sequencing.Results Both patients were young adult women aged 29 and 35 years. Radiologically, both presented with a cystic Bosniak category II renal lesion. The cysts measured 9.3 cm and 4.8 cm in greatest dimension. Both patients underwent cyst enucleation, and neither had tumor recurrence or metastasis at 26 and 6 months of follow-up, respectively. Microscopically, both tumors were entirely cystic, with thick, fibrous cystic walls lined by small clusters of cells with clear to eosinophilic cytoplasm and uniform, round nuclei with inconspicuous nucleoli. There were also small aggregations of similar clear cells within the cystic walls. Foci of basement membrane-like material depositions were noted in 1 case; calcifications were observed in both cases. Both cases demonstrated nuclear positivity for PAX8 and TFE3 and cytoplasmic staining for Melan-A; HMB45, CAIX, and CK7 were negative. Fluorescence in situ hybridization revealed that both tumors were positive for TFE3 rearrangements. RNA sequencing identified MED15::TFE3 gene fusions in both cases.Conclusions The main differential diagnosis of MED15::TFE3 fusion RCC includes multilocular cystic renal neoplasm of low malignant potential and atypical renal cysts. Molecular confirmation of TFE3 fusion is essential for establishing the correct diagnosis.
机构:
Hop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Classe, Marion
;
Malouf, Gabriel G.
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Grp Hosp Pitie Salpetriere, AP HP, Inst Univ Cancerol GRC5, Dept Oncol Med,Fac Med Pierre & Marie Curie, Paris, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Malouf, Gabriel G.
;
Su, Xiaoping
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机构:
Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77030 USAHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Su, Xiaoping
;
Yao, Hui
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Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77030 USAHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Yao, Hui
;
Thompson, Erika J.
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Univ Texas MD Anderson Canc Ctr, Dept Genet, Houston, TX 77030 USAHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Thompson, Erika J.
;
Doss, Denaha J.
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Univ Texas MD Anderson Canc Ctr, Dept Genet, Houston, TX 77030 USAHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Doss, Denaha J.
;
Gregoire, Valerie
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CHRU, Dept Pathol, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Gregoire, Valerie
;
Lenobin, Julien
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CHRU, Dept Urol, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Lenobin, Julien
;
Fantoni, Jean-Christophe
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CHRU, Dept Urol, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Fantoni, Jean-Christophe
;
Sudour-Bonnange, Helene
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Ctr Anti Canc Oscar Lambret, Unite Oncol Pediat, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Sudour-Bonnange, Helene
;
Khayat, David
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Grp Hosp Pitie Salpetriere, AP HP, Inst Univ Cancerol GRC5, Dept Oncol Med,Fac Med Pierre & Marie Curie, Paris, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Khayat, David
;
Aubert, Sebastien
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CHRU, Dept Pathol, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Aubert, Sebastien
;
Tannir, Nizar M.
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机构:
Univ Texas MD Anderson Canc Ctr, Dept Genitourinary Med Oncol, Houston, TX 77030 USAHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Tannir, Nizar M.
;
Leroy, Xavier
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机构:
CHRU, Dept Pathol, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
机构:
Hop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Classe, Marion
;
Malouf, Gabriel G.
论文数: 0引用数: 0
h-index: 0
机构:
Grp Hosp Pitie Salpetriere, AP HP, Inst Univ Cancerol GRC5, Dept Oncol Med,Fac Med Pierre & Marie Curie, Paris, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Malouf, Gabriel G.
;
Su, Xiaoping
论文数: 0引用数: 0
h-index: 0
机构:
Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77030 USAHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Su, Xiaoping
;
Yao, Hui
论文数: 0引用数: 0
h-index: 0
机构:
Univ Texas MD Anderson Canc Ctr, Dept Bioinformat & Computat Biol, Houston, TX 77030 USAHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Yao, Hui
;
Thompson, Erika J.
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h-index: 0
机构:
Univ Texas MD Anderson Canc Ctr, Dept Genet, Houston, TX 77030 USAHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Thompson, Erika J.
;
Doss, Denaha J.
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机构:
Univ Texas MD Anderson Canc Ctr, Dept Genet, Houston, TX 77030 USAHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Doss, Denaha J.
;
Gregoire, Valerie
论文数: 0引用数: 0
h-index: 0
机构:
CHRU, Dept Pathol, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Gregoire, Valerie
;
Lenobin, Julien
论文数: 0引用数: 0
h-index: 0
机构:
CHRU, Dept Urol, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Lenobin, Julien
;
Fantoni, Jean-Christophe
论文数: 0引用数: 0
h-index: 0
机构:
CHRU, Dept Urol, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Fantoni, Jean-Christophe
;
Sudour-Bonnange, Helene
论文数: 0引用数: 0
h-index: 0
机构:
Ctr Anti Canc Oscar Lambret, Unite Oncol Pediat, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Sudour-Bonnange, Helene
;
Khayat, David
论文数: 0引用数: 0
h-index: 0
机构:
Grp Hosp Pitie Salpetriere, AP HP, Inst Univ Cancerol GRC5, Dept Oncol Med,Fac Med Pierre & Marie Curie, Paris, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Khayat, David
;
Aubert, Sebastien
论文数: 0引用数: 0
h-index: 0
机构:
CHRU, Dept Pathol, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Aubert, Sebastien
;
Tannir, Nizar M.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Texas MD Anderson Canc Ctr, Dept Genitourinary Med Oncol, Houston, TX 77030 USAHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France
Tannir, Nizar M.
;
Leroy, Xavier
论文数: 0引用数: 0
h-index: 0
机构:
CHRU, Dept Pathol, Lille, FranceHop Lariboisiere, AP HP, Dept Pathol, F-75010 Paris, France