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Year : 2013  |  Volume : 56  |  Issue : 4  |  Page : 471-472
Xp11 translocation renal cell carcinoma


Department of Pathology, Seth G S Medical College, Parel, Mumbai, Maharashtra, India

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Date of Web Publication18-Jan-2014
 

How to cite this article:
Kothari KS, Sathe PA, Naik LP, Kandalkar BM. Xp11 translocation renal cell carcinoma. Indian J Pathol Microbiol 2013;56:471-2

How to cite this URL:
Kothari KS, Sathe PA, Naik LP, Kandalkar BM. Xp11 translocation renal cell carcinoma. Indian J Pathol Microbiol [serial online] 2013 [cited 2019 Dec 9];56:471-2. Available from: http://www.ijpmonline.org/text.asp?2013/56/4/471/125383


A 10-year-old girl presented with five to six episodes of hematuria with passage of clots and intermittent abdominal pain of 20 days duration. There were no significant medical or surgical illnesses in the past and general and systemic examinations were non-contributory. Laboratory investigations revealed: hemoglobin -9.9g/dl, total and differential WBC counts and platelet, count were within normal limits. Sr creatinine -0.6 mg/dl, SGOT - 18 IU/l , SGPT - 16 IU/l, Sr Alpha feto protein -3.53 μg/dl, Sr ί HCG -0.61 mIU/ml, Sr LDH - 272 IU/l ( reference range: 100-190 IU/l).

Abdominal USG showed a 32 × 23 × 19 mm, well-defined, oval, hypoechoeic lesion with no evidence of calcification, in the mid and lower pole of left kidney. Renal Doppler and MRI confirmed a well-defined, focal, highly vascular lesion [Figure 1]a . A radiologic diagnosis of angiomyolipoma was given. Conservative management by transcatheter arterial embolization was planned and USG-guided FNAC was performed to confirm the diagnosis.
Figure 1: (a) CT scan showing a well-defi ned 33 x 23 x 19 mm, oval, vascular lesion arising from the lower pole of left kidney. (b) Gross specimen with a 2.5 cm, circumscribed, hemorrhagic nodule abutting the pelvis

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Pathology

The FNA smears were cellular and showed many well-formed, branching papillae, dyscohesive cell clusters, and dissociate single cells [Figure 2]a. The cells were large, round to polygonal with abundant, finely granular or clear - vacuolated cytoplasm and moderately enlarged, round, hyperchromatic nuclei with occasional nucleoli [Figure 2]b. Focal necrosis, hemorrhage, hemosiderophages, and occasional calcification were seen. Differential diagnoses of epithelioid angiomyolipoma, renal oncocytoma, and RCC were considered. However, in view of the well-formed papillae, clear and vacuolated cells, presence of necrosis and calcification a diagnosis of RCC was favored.
Figure 2: (a) Aspirate showing a papillary architecture (Pap x100). (b) Cells with abundant pale to vacuolated cytoplasm and hyperchromatic nuclei (Geimsa x400). (c) Hemorrhagic tumor with papillary architecture, clear cells, and psammomatoid calcifi cati on (HE x100), (d) Nuclear TFE 3 positivity (x100)

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Nephrectomy was performed; the kidney measured 7.5 × 5 × 3.5 cm and showed a 2.5 cm hemorrhagic nodule in the mid-lower pole of the kidney, abutting the pelvis [Figure 1]b.

Microscopy showed a tumor with a prominent papillary and nested architecture. The cells were large with abundant clear to eosinophilic cytoplasm and moderately pleomorphic nuclei with occasional nucleoli. Psammomatous calcification, foci of hemorrhage, and hemosiderophages were seen [Figure 2]c. Histomorphology was suggestive of a translocation RCC and IHC showed strong, diffuse nuclear positivity for TFE 3, confirming the same [Figure 2]d.


   Discussion Top


Xp11 translocation RCCs are a group of neoplasms defined by chromosomal translocations involving the TFE3 transcription factor gene located at the Xp11.2 locus. The translocation fuses TFE3 to ASPL, PRCC, NonO (p54nrb) , PSF, CLTC etc. resulting in overexpression of the TFE3 protein, which is demonstrable by immunohistochemistry. [1]

A prior history of chemotherapy is the only known risk factor for Xp11 translocation RCC and is seen in up to 15% of cases. [1] Imaging may show overlapping features with an angiomyolipoma; however, psammomatous calcification if radiologically evident may give a useful diagnostic clue. [1],[2] Cytologic overlap also exists between translocation RCC and epithelioid angiomyolipoma due to the presence of large cells with eosinophilic cytoplasm and rich vascularity, also adipose tissue can be variable in an angiomyolipoma and may not be apparent in the aspirate. [2] The presence of well-formed papillae as well as calcification are in favor of a translocation RCC, as was seen in our case. [3] Follicular structures with hyaline cores may be seen in addition to the papillae. [4]

The gross appearance of Xp11 translocation RCC often resembles conventional RCC as a yellow, hemorrhagic, and necrotic mass. [1] The tumor may occasionally mimic renal lithiasis or may be obscured by xanthogranulomatous pyelonephritis. [5] Apart from the characteristic papillary architecture with clear and eosinophilic cells, tumors can show cystic spaces, solid, or nested growth and can have a subpopulation of smaller, bluer cells surrounding discrete hyaline material. [1] Tumor giant cells and fascicles of spindle cells are also reported. [5] The immunohistochemical pattern of translocation RCC is different from clear cell and papillary RCC with underexpression of cytokeratin 7, AE1/AE3, EMA ,and TFE 3 positivity. [1]

In summary, specific clues to diagnosis include young age of the patient, papillary architecture with clear cells, psammomatous calcifications, and underexpression of cytokeratins by immunohistochemistry. [1],[6] Confirmation of the diagnosis can be achieved by identification of nuclear TFE3 positivity by IHC or TFE3 gene rearrangement by FISH. [1]

Outcome data are still premature, however translocation carcinomas tend to present at a higher stage with frequent lymph node and distant organ metastases and adults often have a rapidly terminal course, although children may have a longer disease free survival. [5],[6] Nevertheless, the tumor can metastasize decades after its initial presentation hence an accurate diagnosis and follow up are essential. [6]


   Acknowledgement Top


Dr Jay Mehta, Consultant Histopathologist, Centre of excellence in Histopathology - SRL Diagnostics, for TFE 3 immunohistochemistry.

 
   References Top

1.Ross H, Martignoni G, Argani P. Renal cell carcinoma with clear cell and papillary features. Arch Pathol Lab Med 2012;136:391-9.  Back to cited text no. 1
    
2.Crapanzano JP. Fine needle aspiration of renal angiomyolipoma: Cytologic findings and diagnostic pitfalls in a series of five cases. Diagn Cytopathol 2005;32:53-7.  Back to cited text no. 2
    
3.Mansouri D, Dimet S, Couanet D, Terrier-Lacombe MJ, Vasiliu V, Khalifa C, et al. Renal Cell Carcinoma with an Xp11.2 translocation in a 16 year old girl: A case report with cytologic features. Diagn Cytopathol 2006;34:757-60.  Back to cited text no. 3
    
4.Schinstine M, Filie AC, Torres-abala C, Abati A, Linehan WM, Merino M. Fine needle aspiration of a Xp11.2 translocation/TFE3 fusion renal cell carcinoma metastatic to the lung: Report of a case and review of the literature. Diagm Cytopathol 2006;34:751-6.  Back to cited text no. 4
    
5.Argani P, Olgac S, Tickoo SK, Goldfischer M, Moch H, Chan DY, et al. Xp11 translocation renal cell carcinoma in adults: Expanded clinical, pathologic, and genetic spectrum. Am J Surg Pathol 2007;31:1149-60.  Back to cited text no. 5
    
6.Ross H, Argani P. Xp11 translocation renal cell carcinoma. Pathology 2010;42:369-73.  Back to cited text no. 6
    

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Correspondence Address:
Kanchan S Kothari
Department of Pathology, Seth G S Medical College, Parel, Mumbai - 400 012, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.125383

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