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Table of Contents
CASE REPORT
Year : 2021  |  Volume : 12  |  Issue : 1  |  Page : 32-34

Renal cell carcinoma arising within autosomal dominant polycystic kidney disease


1 Department of Surgery, Faculty of Clinical Sciences, Bayero University, Kano, Nigeria
2 Department of Radiology, Faculty of Clinical Sciences, Bayero University, Kano, Nigeria
3 Department of Pathology, Faculty of Clinical Sciences, Bayero University, Kano, Nigeria

Date of Submission31-Oct-2020
Date of Decision24-Jan-2021
Date of Acceptance24-Mar-2021
Date of Web Publication9-Aug-2021

Correspondence Address:
Dr. Abdullahi Ahmad
Department of Pathology, Faculty of Clinical Sciences, Bayero University, Kano
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/atp.atp_54_20

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  Abstract 

Renal cell carcinoma (RCC) arising within autosomal dominant polycystic kidney disease (ADPKD) is rare. The detection of this complication in patients with ADPKD is difficult owing to the nonspecific symptoms. Here, we describe a case of a young woman who presented with RCC in the background of ADPKD. She had radical nephrectomy, followed by adjuvant chemotherapy.

Keywords: Autosomal dominant, Nigeria, Polycystic kidney disease, renal cell carcinoma


How to cite this article:
Abdullahi M, Ismail A, Ahmad A. Renal cell carcinoma arising within autosomal dominant polycystic kidney disease. Ann Trop Pathol 2021;12:32-4

How to cite this URL:
Abdullahi M, Ismail A, Ahmad A. Renal cell carcinoma arising within autosomal dominant polycystic kidney disease. Ann Trop Pathol [serial online] 2021 [cited 2021 Dec 7];12:32-4. Available from: https://www.atpjournal.org/text.asp?2021/12/1/32/323473


  Introduction Top


Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disease with a prevalence of 1 in 1000 live births, and patients present with multiple renal cysts that ultimately lead to end-stage renal failure.[1] In addition to renal cysts, multiple cysts could also arise in the liver, spleen, and lungs The genetic basis of ADPKD revolves around mutation of the PKD1 and PKD2 genes. These mutations lead to dysregulation of the cilia–centrosome complex of the tubular epithelial cells that results in the formation of multiple cysts in target organs.[2]

The disease has a wide clinical severity. In significant number of cases, end-stage renal disease develops by the sixth decade, while in a minority of cases, renal function is preserved.[3] The affected genes are also found in other organs of the body. This leads to the formation of cysts in the liver, spleen, pancreas, and lungs. Subarachnoid hemorrhage due to ruptured intracranial berry aneurysm also occurs. Extrarenal manifestations include liver cysts that may occur in two-thirds of cases.[4] Renal cell carcinoma (RCC) occurring as a complication of ADPKD, though uncommon, has been documented. In a study done at Mayo Clinic, three cases of RCC in ADPKD were documented between 1955 and 1992.[5] Clear cell is the most common histologic subtype.[5] The diagnosis of RCC arising within ADPKD is mostly challenging. This is due to the fact that clinical presentations, such as hematuria and flank pain, are also seen in some complications of ADPKD.[5]

Herein, we present a case of a young woman whose diagnosis of ADPKD was made simultaneously with that of RCC.


  Case Report Top


Mrs. KY is a 35-year-old woman who was referred to the urology outpatient clinic on account of recurrent right flank pain for 3 years and right flank swelling for 1 year, before presentation. The pain was insidious in onset and dull predominantly radiating to the back. She noticed a swelling at the same site, 2 years into the illness with no significant increase in size before presentation. She also had a significant weight loss over the course of the illness. However, there was no history of lower urinary tract symptoms, hematuria, or uremic symptoms. Furthermore, there was no family history of renal cancer or renal cystic disease. However, she was diagnosed hypertensive about 10 years earlier.

Physical examination findings revealed a bimanually palpable left kidney. Other findings were normal.

Abdominopelvic ultrasound from a referring center revealed bilateral polycystic kidneys, with the other intra-abdominal viscera being normal.

The laboratory results revealed normal renal function test, full blood count, and electrocardiograms, as well as echocardiography, which appeared within normal limits.

On abdominopelvic computed tomographic (CT) scan, the left renal parenchyma was replaced by huge mass of heterogeneous density and variable contrast enhancement that completely distorted the renal architecture [Figure 1]. It measured 90 mm × 88 mm in the widest axial dimension and showed multiple necrotic foci. Nevertheless, there were no calcific foci seen within it. As a result, there was marked deformity and distortion of the opacified left renal calyces, but the ureter was satisfactorily opacified with contrast medium. Tumor extension was also noted to compress the renal vessels. On the other hand, there were satisfactory enhancement and excretion of contrast medium, with normal collecting system from the right kidney. However, each kidney bare more than ten noncommunicating hypodense nonenhancing parenchymal lesions, with water density in keeping with renal cysts. Their sizes ranged from 6 mm to 22 mm in diameter. The remaining abdominopelvic structures appeared normal.
Figure 1: Axial section of the abdominopelvic computed tomographic scan at the level of the kidneys, showing multiple renal cysts bilaterally (arrows). Note the gross enlargement of the left kidney and replacement of its parenchyma by a mass of heterogeneous density (arrow head)

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On this account, she had bilateral renal exploration, which revealed enlarged left kidney with multiple cysts and intact capsule, right polycystic kidney, and para-aortic lymphadenopathy. The peritoneum and other abdominal viscera were normal. She then had left radical nephrectomy.

During immediate postoperative period, she developed oliguria and anemia, which resolved following correction of anemia by blood transfusion.

On gross examination, the resected kidney measured 13 cm×10 cm×7 cm and weighed 320 g [Figure 2] and [Figure 3]. The external surface was boselated with numerous, variably sized cysts. Transection of the kidney showed a necrotic, grayish-white tumor with cystic degeneration. There was preserved renal parenchyma with numerous cysts at the periphery. Microscopic examination showed clear cell renal carcinoma with other areas containing cysts and unremarkable glomeruli and tubules [Figure 4].
Figure 2: Gross photograph showing an enlarged kidney with multiple cysts on the surface

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Figure 3: Gross photograph of the transected kidney showing a central greyish white necrotic tumor with multiple cysts

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Figure 4: Photomicrograph showing lobules of tumor cells separated by a thin vascular core. The cells have round nuclei with inconspicuous nucleoli and a clear cytoplasm (H and E, ×100)

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She has commenced neoadjuvant chemotherapy with sorafenip and clinically stable on follow-up.


  Discussion Top


The association of RCC and ADPKD was first observed by Walters and Braasch in 1934.[6] Efforts to conclusively prove this link have been hampered because most studies have been in the form of case reports. Despite all these, the distinct epidemiology of this subset of RCC lends credence to the association between ADPKD and RCC.

RCC in ADPKD presents in a younger age compared to the general population.[7] The median age is 47 years as compared to 61 years in the general population.[4] The age of our index patient of 34 years supports this observation.

ADPKD-RCC appears to have equal gender frequency, even though there is no population-based study to determine the prevalence.[4] RCC in the general population is more common in males.

Diagnosing the occurrence of tumor within ADPKD has often been associated with difficulties, due to some overlap of some radiologic findings on radiograph and ultrasound.[8] This is due to inherent low contrast due to the depth of the kidneys in the retroperitoneum. Hence, the choice of CT scans as a diagnostic modality of choice. As shown in this case, contrast enhancement was useful in clearly delineating the renal cysts of ADPKD, separate from the substance of the RCC, even if it contains necrotic foci. Additional advantages of CT are the ability to clearly show calcifications and bony metastases more than ultrasound, radiography, and magnetic resonance imaging. Despite the integrity of the renal capsule intraoperatively, the suspected features of malignancy on CT scan were confirmed by histology of the nephrectomy specimen.

Hematuria, flank pain, and fever have been noted to be prominent clinical presentations in ADPKD RCC. However, complications of ADPKD (hemorrhage, and rapidly, increasing cysts) also present with similar findings even in the absence of RCC.[8] In our patient, the absence of hematuria, which would have alarmed the patient, might be a reason for the late presentation.

In addition, in most reports, clear cell is the most common histologic subtype. This is similar to the general population.[8] An increased frequency of sarcomatoid tumor has been observed as compared to the general population.[4],[9]

Bilateral synchronous tumor has been reported to be more prevalent in ADPKD-RCC as compared to RCC in the general population, with a frequency of 12% to 1%–5% respectively.[4],[10] Even though the index patient presented with a unilateral tumor, she is at increased risk of developing a second malignancy on the contralateral kidney on long term follow up.[8]


  Conclusion Top


We presented a case of a unilateral RCC developing in a background of ADPKD that had radical nephrectomy. Even though the diagnosis of the RCC was made simultaneously with the ADPKD, possibly due to late presentation by the patient, increased awareness of this association together with frequent screening might be of help in detecting the tumor at an early stage.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Dalgaard OZ. Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families. Acta Med Scand Suppl 1957;328:1-255.  Back to cited text no. 1
    
2.
Alpers CE, Chang A. The kidney. In: Kumar V, Abbas AK, Aster JC, editors. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Philadelphia: Elsevier Saunders; 2015.  Back to cited text no. 2
    
3.
Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, Lezotte DC, Duley IT, et al. Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int 1992;41:1311-9.  Back to cited text no. 3
    
4.
Chauveau D, Fakhouri F, Grünfeld JP. Liver involvement in autosomal-dominant polycystic kidney disease: Therapeutic dilemma. J Am Soc Nephrol 2000;11:1767-75.  Back to cited text no. 4
    
5.
Keith DS, Torres VE, King BF, Zincki H, Farrow GM. Renal cell carcinoma in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 1994;4:1661-9.  Back to cited text no. 5
    
6.
Walters W, Braasch WF. Surgical aspects of polycystic kidney. Surg Obstet Gynecol 1934:647-50.  Back to cited text no. 6
    
7.
Resseguie LJ, Nobrega FT, Farrow GM, Timmons JW, Worobec TG. Epidemiology of renal and ureteral cancer in Rochester, Minnesota, 1950-1974, with special reference to clinical and pathologic features. Mayo Clin Proc 1978;53:503-10.  Back to cited text no. 7
    
8.
McNichols DW, Segura JW, DeWeerd JH. Renal cell carcinoma: Long-term survival and late recurrence. J Urol 1981;126:17-23.  Back to cited text no. 8
    
9.
Toma KM, Farrow GM, Lieber MM. Sarcomatoid renal carcinoma. J Urol 1983;130:657-9.  Back to cited text no. 9
    
10.
Stigsson L, Ekelund L, Karp W. Bilateral concurrent renal neoplasms: Report of eleven cases. AJR Am J Roentgenol 1979;132:37-42.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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