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

被引:0
作者
Yin, Xiaona [1 ]
Hu, Xingen [2 ]
Xu, Jiayun [1 ]
Xiong, Danting [3 ]
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
关键词
TFE3; MED15; cystic mass; multilocular cystic renal neoplasm of low malignant potential; atypical renal cyst; renal cell carcinoma; fluorescence in situ hybridization; next-generation sequencing; BREAK-APART FISH; TFE3; GENE; TRANSLOCATION; FEATURES; PRCC; NEOPLASMS;
D O I
10.1093/ajcp/aqae011
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
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.
引用
收藏
页码:86 / 94
页数:9
相关论文
共 35 条
[1]   PRCC-TFE3 renal carcinomas -: Morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21) [J].
Argani, P ;
Antonescu, CR ;
Couturier, J ;
Fournet, JC ;
Sciot, R ;
Debiec-Rychter, M ;
Hutchinson, B ;
Reuter, VE ;
Boccon-Gibod, L ;
Timmons, C ;
Hafez, N ;
Ladanyi, M .
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2002, 26 (12) :1553-1566
[2]   Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions -: A sensitive and specific immunohistochemical assay [J].
Argani, P ;
Lal, P ;
Hutchinson, B ;
Lui, MY ;
Reuter, VE ;
Ladanyi, M .
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2003, 27 (06) :750-761
[3]   Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma -: A distinctive tumor entity previously included among renal cell carcinomas of children and adolescents [J].
Argani, P ;
Antonescu, CR ;
Illei, PB ;
Lui, MY ;
Timmons, CF ;
Newbury, R ;
Reuter, VE ;
Garvin, AJ ;
Perez-Atayde, AR ;
Fletcher, JA ;
Beckwith, JB ;
Bridge, JA ;
Ladanyi, M .
AMERICAN JOURNAL OF PATHOLOGY, 2001, 159 (01) :179-192
[4]   MED15::TFE3 Renal Cell Carcinomas: Report of Two New Cases and Review of the Literature Confirming Nearly Universal Multilocular Cystic Morphology [J].
Argani, Pedram ;
Matoso, Andres ;
Baraban, Ezra G. ;
Epstein, Jonathan I. ;
Antonescu, Cristina R. .
INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY, 2023, 31 (04) :409-414
[5]   Translocation carcinomas of the kidney [J].
Argani, Pedram .
GENES CHROMOSOMES & CANCER, 2022, 61 (05) :219-227
[6]   RBM10-TFE3 Renal Cell Carcinoma A Potential Diagnostic Pitfall Due to Cryptic Intrachromosomal Xp11.2 Inversion Resulting in False-negative TFE3 FISH [J].
Argani, Pedram ;
Zhang, Lei ;
Reuter, Victor E. ;
Tickoo, Satish K. ;
Antonescu, Cristina R. .
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2017, 41 (05) :655-662
[7]  
Argani P, 2016, AM J SURG PATHOL, V40, P723, DOI [10.1097/pas.0000000000000631, 10.1097/PAS.0000000000000631]
[8]   Fusion of splicing factor genes PSF and NonO (p54(nrb)) to the TFE3 gene in papillary renal cell carcinoma [J].
Clark, J ;
Lu, YJ ;
Sidhar, SK ;
Parker, C ;
Gill, S ;
Smedley, D ;
Hamoudi, R ;
Linehan, WM ;
Shipley, J ;
Cooper, CS .
ONCOGENE, 1997, 15 (18) :2233-2239
[9]   Incidence, clinicopathological features and fusion transcript landscape of translocation renal cell carcinomas [J].
Classe, Marion ;
Malouf, Gabriel G. ;
Su, Xiaoping ;
Yao, Hui ;
Thompson, Erika J. ;
Doss, Denaha J. ;
Gregoire, Valerie ;
Lenobin, Julien ;
Fantoni, Jean-Christophe ;
Sudour-Bonnange, Helene ;
Khayat, David ;
Aubert, Sebastien ;
Tannir, Nizar M. ;
Leroy, Xavier .
HISTOPATHOLOGY, 2017, 70 (07) :1089-1097
[10]   Cystic MED15::TFE3 translocation renal cell carcinoma: histologic mimicker of multilocular cystic renal neoplasm of low malignant potential with review of the literature* [J].
Doytcheva, Kristina ;
Gallan, Alexander J. ;
Wang, Peng ;
Wanjari, Pankhuri ;
Segal, Jeremy ;
Antic, Tatjana .
HUMAN PATHOLOGY, 2023, 136 :25-33