Renal Cell Carcinoma with Rhabdoid Features: Report of a Rare Case Diagnosed on Endobronchial Ultrasound-Guided Fine Needle Aspiration

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Wei Xie Rodolfo Laucirica Bettye Cox Nimesh Patel Marilyn Li Veral D. Amin


Renal cell carcinoma  (RCC) with rhabdoid features is a rare subtype of RCC.  We describe the case of a 36-year-old man who presented with neck pain, and a head CT which showed two infiltrative masses in the vertebral bodies. An abdominal CT demonstrated a heterogeneous mildly enhancing mass in the superior pole of the right kidney with internal necrosis. A chest CT revealed multiple enlarged hilar lymph nodes. EBUS-guided FNA was performed. The smears and cell block material showed loose clusters and single neoplastic cells with large vesicular nuclei and prominent nucleoli and abundant eosinophilic cytoplasm with fine vacuoles and granules. The tumor cells were positive for CAM 5.2, P53, EMA (Focally positive), and negative for RCC and CD 10 by IHC and positive for the VHL W117fs mutation by Sanger sequencing. These results were consistent with the diagnosis of RCC with rhabdoid features, which is consistent with surgical diagnosis. To our knowledge, this is the first report of RCC with rhabdoid features diagnosed by endobronchial ultrasound-guided fine needle aspiration (EBUS-guided FNA).

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XIE, Wei et al. Renal Cell Carcinoma with Rhabdoid Features: Report of a Rare Case Diagnosed on Endobronchial Ultrasound-Guided Fine Needle Aspiration. Medical Research Archives, [S.l.], v. 2, n. 1, july 2015. ISSN 2375-1924. Available at: <>. Date accessed: 25 mar. 2023.
Renal cell carcinoma, rhabdoid features, EBUS-guided FNA
Case Reports


1. Agranovich AL, Ang LC, Griebel RW, Kobrinsky NL, Lowry N, Tchang SP. Malignant rhabdoid tumor of the central nervous system with subarachnoid dissemination. Surg Neurol 37: 410-414, 1992.
2. Biggs PJ, Garen PD, Powers JM, Garvin AJ. Malignant rhabdoid tumor of the central nervous system. Hum Pathol 18: 332-337, 1987.
3. Cavazza A, Colby TV, Tsokos M, Rush W, Travis WD. Lung tumors with a rhabdoid phenotype. Am J Clin Pathol 105: 182-188, 1996.
4. de Peralta-Venturina M, Moch H, Amin M, Tamboli P, Hailemariam S, Mihatsch M, Javidan J, Stricker H, Ro JY, Amin MB. Sarcomatoid differentiation in renal cell carcinoma: a study of 101 cases. Am J Surg Pathol 25: 275-284, 2001.
5. Forman JR, Worth CL, Bickerton GR, Eisen TG, Blundell TL. Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. Proteins 77: 84-96, 2009.
6. Foster K, Prowse A, van den Berg A, Fleming S, Hulsbeek MM, Crossey PA, Richards FM, Cairns P, Affara NA, Ferguson-Smith MA, et al. Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma. Hum Mol Genet 3: 2169-2173, 1994.
7. Frew IJ, Moch H. A Clearer View of the Molecular Complexity of Clear Cell Renal Cell Carcinoma. Annu Rev Pathol, 2014.
8. Friedrich CA. Genotype-phenotype correlation in von Hippel-Lindau syndrome. Hum Mol Genet 10: 763-767, 2001.
9. Gokden N, Nappi O, Swanson PE, Pfeifer JD, Vollmer RT, Wick MR, Humphrey PA. Renal cell carcinoma with rhabdoid features. Am J Surg Pathol 24: 1329-1338, 2000.
10. Gossage L, Eisen T. Alterations in VHL as potential biomarkers in renal-cell carcinoma. Nat Rev Clin Oncol 7: 277-288, 2010.
11. Harris M, Eyden BP, Joglekar VM. Rhabdoid tumour of the bladder: a histological, ultrastructural and immunohistochemical study. Histopathology 11: 1083-1092, 1987.
12. Hergovich A, Lisztwan J, Barry R, Ballschmieter P, Krek W. Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL. Nat Cell Biol 5: 64-70, 2003.
13. Kapoor A, Tutino R, Kanaroglou A, Hotte SJ. Treatment of adult rhabdoid renal cell carcinoma with sorafenib. Can Urol Assoc J 2: 631-634, 2008.
14. Kurban G, Duplan E, Ramlal N, Hudon V, Sado Y, Ninomiya Y, Pause A. Collagen matrix assembly is driven by the interaction of von Hippel-Lindau tumor suppressor protein with hydroxylated collagen IV alpha 2. Oncogene 27: 1004-1012, 2008.
15. Leroy X, Zini L, Buob D, Ballereau C, Villers A, Aubert S. Renal cell carcinoma with rhabdoid features: an aggressive neoplasm with overexpression of p53. Arch Pathol Lab Med 131: 102-106, 2007.
16. Lew M, Foo WC, Roh MH. Diagnosis of metastatic renal cell carcinoma on fine-needle aspiration cytology. Arch Pathol Lab Med 138: 1278-1285, 2014.
17. Nishihara K, Katsumoto F, Kurokawa Y, Toyoshima S, Takeda S, Abe R. Anaplastic carcinoma showing rhabdoid features combined with mucinous cystadenocarcinoma of the pancreas. Arch Pathol Lab Med 121: 1104-1107, 1997.
18. Ohh M, Yauch RL, Lonergan KM, Whaley JM, Stemmer-Rachamimov AO, Louis DN, Gavin BJ, Kley N, Kaelin WG, Jr., Iliopoulos O. The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix. Mol Cell 1: 959-968, 1998.
19. Oshiro Y, Shiratsuchi H, Oda Y, Toyoshima S, Tsuneyoshi M. Rhabdoid features in leiomyosarcoma of soft tissue: with special reference to aggressive behavior. Mod Pathol 13: 1211-1218, 2000.
20. Roh MH, Dal Cin P, Silverman SG, Cibas ES. The application of cytogenetics and fluorescence in situ hybridization to fine-needle aspiration in the diagnosis and subclassification of renal neoplasms. Cancer Cytopathology 118: 137-145, 2010.
21. Shannon B, Stan Wisniewski Z, Bentel J, Cohen RJ. Adult rhabdoid renal cell carcinoma. Arch Pathol Lab Med 126: 1506-1510, 2002.
22. Shannon B, Wisniewski ZS, Bentel J, Cohen RJ. Adult Rhabdoid Renal Cell Carcinoma. Arch Pathol Lab Med 126: 1506-1510, 2002.
23. Stebbins CE, Kaelin WG, Jr., Pavletich NP. Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function. Science 284: 455-461, 1999.
24. Tadic M, Stoos-Veic T, Kusec R. Endoscopic ultrasound guided fine needle aspiration and useful ancillary methods. World J Gastroenterol 20: 14292-14300, 2014.
25. Tsuneyoshi M, Daimaru Y, Hashimoto H, Enjoji M. The existence of rhabdoid cells in specified soft tissue sarcomas. Histopathological, ultrastructural and immunohistochemical evidence. Virchows Arch A Pathol Anat Histopathol 411: 509-514, 1987.
26. Utsunomiya T, Yao T, Masuda K, Tsuneyoshi M. Vimentin-positive adenocarcinomas of the stomach: co-expression of vimentin and cytokeratin. Histopathology 29: 507-516, 1996.
27. Weeks DA, Beckwith JB, Mierau GW, Zuppan CW. Renal neoplasms mimicking rhabdoid tumor of kidney. A report from the National Wilms' Tumor Study Pathology Center. Am J Surg Pathol 15: 1042-1054, 1991.
28. Weiss E, Behring B, Behnke J, Christen HJ, Pekrun A, Hess CF. Treatment of primary malignant rhabdoid tumor of the brain: report of three cases and review of the literature. Int J Radiat Oncol Biol Phys 41: 1013-1019, 1998.
29. Yan BC, Mackinnon AC, Al-Ahmadie HA. Recent developments in the pathology of renal tumors: morphology and molecular characteristics of select entities. Arch Pathol Lab Med 133: 1026-1032, 2009.
30. Yang H, Minamishima YA, Yan Q, Schlisio S, Ebert BL, Zhang X, Zhang L, Kim WY, Olumi AF, Kaelin WG, Jr. pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by CK2. Mol Cell 28: 15-27, 2007.