Xp11.2 translocation renal cell carcinoma with SFPQ/PSF-TFE3 fusion gene: A case report with unusual histopathologic findings

Ishikawa, Noriyoshi; Nagase, Mamiko; Takami, Saki; Nagano, Nahoko; Araki, Asuka; Iwahashi, Teruaki; Yamauchi, Naotaka; Yamasaki, Taku; Shiina, Hìroaki; Maruyama, Riruke

doi:10.1016/j.prp.2019.152479

Cited by 2 publications

(3 citation statements)

References 19 publications

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“…In previously reported literature, ASPSCR1/ASPL-TFE3 and PRCC-TFE3 were the most frequently detected partner genes, followed by SFPQ/PSF-TFE3, NONO-TFE3, CLTC-TFE3, while other partner genes such as RMB10-TFE3, DVL2-TFE3, etc. are rarely reported ( 5 ). Most patients with Xpl1.2 RCC have no clinical manifestations, and only a small number of patients may present with gross hematuria, lower back pain, and abdominal mass, which are defined as the renal cancer triad.…”

Section: Discussionmentioning

confidence: 99%

MiT family translocation renal cell carcinoma with retroperitoneal metastasis in childhood: a case report

Yang

Dai

et al. 2023

Front. Pediatr.

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RCC accounts for only 0.1%–0.3% of all kidney tumors and 2%–6% of malignant kidney tumors in children. Accounting for approximately one-third of the total number of cases in children and adolescents with RCC, Xp11.2 tRCC is the most common subtype of the MiT family translocation renal cell carcinoma, which is a group of rare childhood and adult tumors, characterized by recurrent gene rearrangements of TFE3. Here we report a rare case of a 6-year-old male patient with MiT family translocation renal cell carcinoma (MiTF tRCC) where the patient developed retroperitoneal metastasis. The patient underwent partial nephrectomy (PN), radical nephrectomy (RN), abdominal lymph node resection, and intestinal adhesion lysis. Microscopically, we detected focal and nest clump-shaped clusters of tumor cells whose cytoplasm was bright and clear. Immunohistochemistry (IHC) showed tumor cells diffusely expressed TFE3, and fluorescence in situ hybridization (FISH) demonstrated disruption of the TFE3 locus, confirming the diagnosis of Xp11.2 tRCC, the most common subtype of MiTF tRCC. Eventually, the patient obtained a good therapeutic result. This case can provide a good reference and guidance for pediatric urologists and oncologists to recognize and diagnose rare renal cell carcinoma in children.

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Section: Discussionmentioning

confidence: 99%

MiT family translocation renal cell carcinoma with retroperitoneal metastasis in childhood: a case report

Yang

Dai

et al. 2023

Front. Pediatr.

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“…112 Other fusion subtypes are rare and have limited reported follow-up. 16,126,150,153 Gross and Microscopic Findings Grossly, Xp11.2 translocation RCC can be indistinguishable from clear cell renal cell carcinoma (CCRCC). 18,123,131 Smaller lesions tend to be well-circumscribed, whereas larger lesions may be infiltrative and extend outside the kidney.…”

Section: Clinical Findings and Prognosismentioning

confidence: 99%

“…NONO , SFPQ , GRIPAP1 , and MED15 cases have been predominantly low stage, but rare metastatic cases have been documented 112. Other fusion subtypes are rare and have limited reported follow-up 16,126,150,153…”

Section: Malignant Renal Neoplasmsmentioning

confidence: 99%

Key Renal Neoplasms With a Female Predominance

Baniak

Barletta

Hirsch

2021

Advances in Anatomic Pathology

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Renal neoplasms largely favor male patients; however, there is a growing list of tumors that are more frequently diagnosed in females. These tumors include metanephric adenoma, mixed epithelial and stromal tumor, juxtaglomerular cell tumor, mucinous tubular and spindle cell carcinoma, Xp11.2 (TFE3) translocation-associated renal cell carcinoma, and tuberous sclerosis complex (somatic or germline) associated renal neoplasms. The latter category is a heterogenous group with entities still being delineated. Eosinophilic solid and cystic renal cell carcinoma is the best-described entity, whereas, eosinophilic vacuolated tumor is a proposed entity, and the remaining tumors are currently grouped together under the umbrella of tuberous sclerosis complex/ mammalian target of rapamycin-related renal neoplasms. The entities described in this review are often diagnostic considerations when evaluating renal mass tissue on biopsy or resection. For example, Xp11.2 translocation renal cell carcinoma is in the differential when a tumor has clear cell cytology and papillary architecture and occurs in a young or middle-aged patient. In contrast, tuberous sclerosis complex-related neoplasms often enter the differential for tumors with eosinophilic cytology. This review provides an overview of the clinical, gross, microscopic, immunohistochemical, genetic, and molecular alterations in key renal neoplasms occurring more commonly in females; differential diagnoses are also discussed regardless of sex predilection.

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Xp11.2 translocation renal cell carcinoma with SFPQ/PSF-TFE3 fusion gene: A case report with unusual histopathologic findings

Cited by 2 publications

References 19 publications

MiT family translocation renal cell carcinoma with retroperitoneal metastasis in childhood: a case report

MiT family translocation renal cell carcinoma with retroperitoneal metastasis in childhood: a case report

Key Renal Neoplasms With a Female Predominance

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