Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Diagnostic Pathology
Published in: Diagnostic Pathology 1/2016

Open Access 01-12-2016 | Case Report

An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report

Authors: Lu Yu, Jun Li, Sanpeng Xu, Mariajose Navia Miranda, Guoping Wang, Yaqi Duan

Published in: Diagnostic Pathology | Issue 1/2016

Login to get access

Abstract

Background

Xp11.2 translocation/transcription factor E3 (TFE3) rearrangement renal cell carcinoma (RCC) is a rare subtype of RCC with limited clinical and pathological data.

Case presentation

Here we present an unusual high-grade Xp11.2 translocation RCC with a rhabdoid feature and SMARCB1 (INI1) inactivation in a 40-year-old man with end-stage kidney disease. The histological examination of the dissected left renal tumor showed an organoid architecture of the eosinophilic or clear neoplastic cells with necrosis and high mitotic activity. In some areas, non-adhesive tumor cells with eccentric nuclei were observed. Immunohistochemically (IHC), the tumor cells are positive for TFE3 and the renal tubular markers (PAX2 and PAX8), and completely negative for SMARCB1, an oncosuppressor protein. Break-apart florescence in situ hybridization and reverse transcription polymerase chain reaction confirmed TFE3 rearrangement on Xp11.2 and the presence of ASPSCR1-TFE3 fusion gene. DNA sequencing revealed a frameshift mutation in exon 4 of SMARCB1 gene.

Conclusion

It is important to recognize this rare RCC with both TFE3 rearrangement and SMARCB1 inactivation, as the prognosis and therapeutic strategies, particularly targeted therapies for such tumors, might be different.
Literature
1.
Srigley JR, Delahunt B, Eble JN, Egevad L, Epstein JI, Grignon D, et al. The International Society of Urological Pathology (ISUP) Vancouver classification of renal neoplasia. Am J Surg Pathol. 2013;37:1469–89.CrossRefPubMed
2.
Hornick JL, Dal Cin P, Fletcher CD. Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol. 2009;33:542–50.CrossRefPubMed
3.
Elwood H, Chaux A, Schultz L, Illei PB, Baydar DE, Billis A, et al. Immunohistochemical analysis of SMARCB1/INI-1 expression in collecting duct carcinoma. Urology. 2011;78:474. e1-5.CrossRefPubMed
4.
Jo VY, Fletcher CD. Epithelioid malignant peripheral nerve sheath tumor: clinicopathologic analysis of 63 cases. Am J Surg Pathol. 2015;39:673–82.CrossRefPubMed
5.
Cheng JX, Tretiakova M, Gong C, Mandal S, Krausz T, Taxy JB. Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior. Mod Pathol. 2008;21:647–52.CrossRefPubMed
6.
Kreiger PA, Judkins AR, Russo PA, Biegel JA, Lestini BJ, Assanasen C, et al. Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas. Mod Pathol. 2009;22:142–50.CrossRefPubMed
7.
Sigauke E, Rakheja D, Maddox DL, Hladik CL, White CL, Timmons CF, et al. Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys and soft tissue: an immunohistochemical study with implications for diagnosis. Mod Pathol. 2006;19:717–25.CrossRefPubMed
8.
Macher-Goeppinger S, Roth W, Wagener N, Hohenfellner M, Penzel R, Haferkamp A, et al. Molecular heterogeneity of TFE3 activation in renal cell carcinomas. Mod Pathol. 2012;25:308–15.PubMed
9.
Rao Q, Shen Q, Xia QY, Wang ZY, Liu B, Shi SS, et al. PSF/SFPQ is a very common gene fusion partner in TFE3 rearrangement-associated perivascular epithelioid cell tumors (PEComas) and melanotic Xp11 translocation renal cancers: clinicopathologic, immunohistochemical, and molecular characteristics suggesting classification as a distinct entity. Am J Surg Pathol. 2015;39:1181–96.CrossRefPubMed
10.
Argani P, Aulmann S, Karanjawala Z, Fraser RB, Ladanyi M, Rodriguez MM. Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma. Am J Surg Pathol. 2009;33:609–19.CrossRefPubMed
11.
Malouf GG, Camparo P, Oudard S, Schleiermacher G, Theodore C, Rustine A, et al. Targeted agents in metastatic Xp11 translocation/TFE3 gene fusion renal cell carcinoma (RCC): a report from the Juvenile RCC Network. Ann Oncol. 2010;21:1834–8.CrossRefPubMed
12.
Calderaro J, Moroch J, Pierron G, Pedeutour F, Grison C, Maille P, et al. SMARCB1/INI1 inactivation in renal medullary carcinoma. Histopathology. 2012;61:428–35.CrossRefPubMed
13.
Pancione M, Di Blasi A, Sabatino L, Fucci A, Dalena AM, Palombi N, et al. A novel case of rhabdoid colon carcinoma associated with a positive CpG island methylator phenotype and BRAF mutation. Hum Pathol. 2011;42:1047–52.CrossRefPubMed
14.
Agaimy A, Koch M, Lell M, Semrau S, Dudek W, Wachter DL, et al. SMARCB1(INI1)-deficient sinonasal basaloid carcinoma: a novel member of the expanding family of SMARCB1-deficient neoplasms. Am J Surg Pathol. 2014;38:1274–81.CrossRefPubMedPubMedCentral
15.
Agaimy A. The expanding family of SMARCB1(INI1)-deficient neoplasia: implications of phenotypic, biological, and molecular heterogeneity. Adv Anat Pathol. 2014;21:394–410.CrossRefPubMed
16.
17.
Smith ME, Cimica V, Chinni S, Jana S, Koba W, Yang Z, et al. Therapeutically targeting cyclin D1 in primary tumors arising from loss of Ini1. Proc Natl Acad Sci U S A. 2011;108:319–24.CrossRefPubMed
Metadata
Title
An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report
Authors
Lu Yu
Jun Li
Sanpeng Xu
Mariajose Navia Miranda
Guoping Wang
Yaqi Duan
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Diagnostic Pathology / Issue 1/2016
Electronic ISSN: 1746-1596
DOI
https://doi.org/10.1186/s13000-016-0551-x

Other articles of this Issue 1/2016

Diagnostic Pathology 1/2016 Go to the issue

Retraction Note

Retraction note: Decrease expression and clinicopathological significance of miR-148a with poor survival in hepatocellular carcinoma tissues

Research

Determination of GP88 (progranulin) expression in breast tumor biopsies improves the risk predictive value of the Nottingham Prognostic Index

Research

Human papillomavirus infection and p16 expression in the immunocompetent patients with extragenital/extraungual Bowen’s disease

Research

Rare subtype(s) and frequency of multi-viral subtype high-risk human papilloma virus infection in high-grade squamous intraepithelial lesion and squamous cell carcinoma in a cervical carcinoma prevalent developing country: a multiplex real-time polymerase chain reaction-based pilot study

Research

DEF6 expression in ovarian carcinoma correlates with poor patient survival

Research

Quantitative and qualitative characterization of Two PD-L1 clones: SP263 and E1L3N