Collecting duct carcinoma of the kidney – A clinicopathological overview

Pakesh Baishya; Ravi Hari Phulware; Sanjeev Kishore; Ankur Mittal; Pankaj Sharma

doi:10.4103/JME.JME_81_21

CASE REPORT

Year : 2022 | Volume : 3 | Issue : 1 | Page : 71-74

Collecting duct carcinoma of the kidney – A clinicopathological overview

Pakesh Baishya¹, Ravi Hari Phulware¹, Sanjeev Kishore¹, Ankur Mittal², Pankaj Sharma³
¹ Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
² Department of Urology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
³ Department of Radiodiagnosis, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

Date of Submission	26-Aug-2021
Date of Decision	30-Sep-2021
Date of Acceptance	11-Dec-2021
Date of Web Publication	28-Apr-2022

Correspondence Address:
Dr. Ravi Hari Phulware
Room No. C-2, Level-3, Medical College Block, Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences, Rishikesh, Uttarakhand
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/JME.JME_81_21

How to cite this article:
Baishya P, Phulware RH, Kishore S, Mittal A, Sharma P. Collecting duct carcinoma of the kidney – A clinicopathological overview. J Med Evid 2022;3:71-4

How to cite this URL:
Baishya P, Phulware RH, Kishore S, Mittal A, Sharma P. Collecting duct carcinoma of the kidney – A clinicopathological overview. J Med Evid [serial online] 2022 [cited 2023 Jun 7];3:71-4. Available from: http://www.journaljme.org/text.asp?2022/3/1/71/344300

Introduction

Collecting duct carcinoma (CDC) or Bellini duct carcinoma or distal renal tubular carcinoma, or distal nephron carcinoma is a highly aggressive malignant kidney tumour developed from the lining epithelial cells of renal collecting ducts of Bellini or collecting tubules within the medulla. It is a rare tumour and secondarily invades the renal cortex of the kidney.^[1],[2] The incidence of CDC is <1% of renal epithelial neoplasms.^[1] The tumour has a broad patient age range, from 13 to 85 years, with median patient age ranging from 43 to 63 years, and about 50% of the patients appear to have metastatic disease at presentation, resulting in a poor outcome.^[3] Men are affected more than women, and the male-to-female ratio is 2:1.^[2]

We describe a case of CDC recently treated at our institution. In the index, the case patient is a middle-aged male who presented to a urology outpatient clinic with the chief complaints of fatigue, weight loss along with haematuria and lower abdominal or loin pain. The clinical findings and typical pathological features with variable immunohistochemistry are described, and we discussed the pathology and management.

Case Report

A 41 year-old-male presented with right-sided abdominal pain and discomfort. He had gross haematuria. On physical examination, he has right flank tenderness and a mass in the right lower quadrant of the abdomen. His laboratory tests were within the standard limit. Computed tomography (CT) scan of the pelvis showed mass lesion arising from the upper pole of the right kidney with infiltration into adjacent hepatic parenchyma with concomitant ipsilateral nephrolithiasis and hydronephrosis [Figure 1]a, [Figure 1]b, [Figure 1]c, and a provisional diagnosis of renal cell carcinoma (RCC) was established.

Figure 1: (a) Axial contrast-enhanced computed tomography image in venous phase showing mass lesion arising from the upper pole of the right kidney with infiltration into adjacent hepatic parenchyma. (b) Coronal reconstruction of contrast-enhanced computed tomography image in venous phase showing mass lesion arising from the upper pole of the right kidney with infiltration into adjacent hepatic parenchyma with concomitant ipsilateral hydronephrosis. (c) Sagittal reconstruction of contrast-enhanced computed tomography image in venous phase showing mass lesion arising from the upper pole of the right kidney with infiltration into adjacent hepatic parenchyma with concomitant ipsilateral nephrolithiasis and hydronephrosis

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A right nephrectomy, along with resection of part of the hepatic parenchyma, was performed, which showed a (10 cm × 9 cm × 8.5 cm) solid cystic mass occupying the upper pole and part of the middle pole of the right kidney. Grossly, the tumour showed a variegated appearance with areas of necrosis and haemorrhage and occupied most of the medulla with no corticomedullary differentiation and direct extension into hepatic parenchyma [Figure 2]a. Microscopy revealed a tubulopapillary carcinoma with extensive desmoplastic stroma and direct invasion into hepatic parenchyma. These tumour cells are columnar or cuboidal shaped with significant pleomorphism and giving rise to a hobnail appearance [Figure 2]b. A panel of the immunohistochemical panel is employed, which showed positive staining with cytokeratin 7 [Figure 2]c, carcinoembryonic antigen [Figure 2]e and P63 [Figure 2]d, while negative for alpha-methylacyl-CoA racemase (AMACR), and integrase interactor 1 or SWI/SNF ATP-dependent chromatin remodelling (CR) complex (SMARCB1) (loss of expression) [Figure 2]f. A special stain for mucicarmine was put, which demonstrates intracellular mucin production [Figure 3]. The microscopic and immunohistochemical staining results were consistent with the diagnosis of CDC of the kidney. At present, the patient is on regular follow-up of 8-month post-operative period and is doing well. There is no evidence of disease recurrence or distant metastasis until the last clinical and radiological assessment follow-up.

Figure 2: (a) Right nephrectomy specimen showing a tan-yellow, well-circumscribed, soft tumour and occupying almost the entire upper pole and part of the middle pole of the kidney. The tumour had showed a variegated appearance with areas of necrosis and haemorrhage and occupied most of the medulla with no corticomedullary differentiation and invaded the renal pelvis and renal sinus fat. (b) Microscopic examination (H and E, ×100) demonstrating a tubulopapillary architecture surrounded by a desmoplastic stroma and tumour cells giving hobnail appearance. These tumour cells are strongly immunopositive for cytokeratins 7 (c), P63 (d) and carcinoembryonic antigen (e) while immunonegative for alpha-methylacyl-CoA racemase (f)

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Figure 3: Mucicarmine stain showing intracellular mucin production

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Discussion

CDC is a rare renal epithelial neoplasm with a tendency towards early lymph node metastasis and high mortality rates.^[4],[5] This aggressive malignancy is considered to be derived from the kidney's collecting duct and has a poor prognostic outcome in the majority of patients.^[5] CDC commonly metastasises to regional lymph nodes (80%) followed by to the lung or adrenal gland (25%) and liver (20%). Both the kidneys are affected equally.^[2],[6]

Two-thirds of the patients are usually symptomatic and present with non-specific signs and symptoms such as haematuria, flank pain, a palpable abdominal mass, weight loss or distant metastasis.^{[2],[5],[6],[7]} CDC is often located in the deep medulla; however, being large in size, its medullary location may not be confined every time. Despite the histological and immunohistochemical features of this disease, distinguishing CDC from pelvic urothelial carcinoma and high-grade papillary RCC is difficult. The tumour is usually identified in or proximal to the renal pelvis and appears grey or white without extensive necrosis or haemorrhage.^[4],[5],[6]

CDC is usually hypovascular with ill-defined borders and presented with invasion into renal cortex and medulla, which is well detected in CT scan.^[2],[6] Some cases demonstrated calcification and haemorrhage. However, CDC does not have specific imaging features that differentiate it from other types of RCC, which made histopathological evaluation crucial for diagnosis.^{[2],[5],[6],[7]}

CDC is an aggressive epithelial malignancy with various morphologies that include papillotubular architecture. As a consequence of this, urologists and pathologists sometimes confuse CDC with papillary RCCs (particularly those that are type 2). In addition, high-grade pelvic urothelial carcinomas tend to invade the renal parenchyma with variable morphological variants, including adenocarcinomatous and squamous metaplasia and sarcomatoid changes. The differential diagnosis of CDC from invasive urothelial carcinoma and papillary RCC remains a very challenging endeavour.^[1],[7],[8]

The most common differential diagnoses for CDC include pelvic urothelial carcinoma with marked invasion to the renal parenchyma (invasive urothelial carcinoma), renal medullary carcinoma, adenocarcinoma of the renal pelvis and type 2 papillary RCC.^[1],[2],[3]

According to Yoon et al.,^[7] Ulex europaeus agglutinin 1, E-cadherin and c-Kit reactivity are useful in distinguishing CDC from papillary renal cell carcinoma and that negative results for AMACR and CD10 are potentially useful hallmarks of this distinction. In contrast, a differential diagnosis for CDC and invasive urothelial carcinoma will require careful examination of multiple routinely stained specimens, particularly in cases of in situ neoplastic lesions in the pelvic mucosa.^[7],[8]

Chintala et al.^[3] done genomic profiling of CDC and found that frequent loss of cyclin-dependent kinase inhibitor 2A CDKN2A (62.5%) and overexpression of several SLC family transporters including xCT, cystine transporter (SLC7A11 gene; 80%), proline transporter (SLC6A7 gene; 100%) and glutamate and aspartate transporter (SLC1A3 gene; 80%) in CDC cases.^{[3],[6],[7],[8]}

Radical nephrectomy is the treatment of choice in most instances. Tumour enucleation and partial nephrectomy are not advocated as the tumour cells spread in the cortical collecting tubule, which results in a poor prognosis. However, various treatments have been reported in the literature, including immunotherapy, radiation therapy, chemotherapy and radical excision, have limited efficacy.^[2],[5] The response to chemotherapy in CDC patients is modest and overall survival (OS) is poor. Several regimens that include methotrexate, vinblastine, doxorubicin, cisplatin, gemcitabine or paclitaxel have been used to treat CDC patients.^[3],[8]

The outlook for CDC is often bleak. Within 2 years of diagnosis, around two-thirds of people with CDC die of cancer. When the diagnosis of CDC is made, many patients already have invasion into other locations or metastases. At the time of presentation, 35%–40% of patients had metastases.^[7],[8] Regional lymph nodes, adrenal glands, bone, lung and liver are all common metastatic locations. As with RCC, lymph node metastases and inferior vena caval thrombosis have been reported. Surgical removal alone does not appear to enhance the prognosis of CDC patients. Regardless of the stage of the disease, close monitoring is advised.^{[7],[8],[9],[10]}

According to Pinto et al.,^[10] patients with CDC who do not receive any therapy after surgery have a median OS of 53 months. The median OS of patients with CDC was 13.2 months compared to 6.4 months in the scenario of metastatic disease following surgery in one of the largest studies from the National Cancer Institute in the United States. Because of these discouraging results, more biological studies and novel therapy solutions for this condition are required.^{[7],[8],[9],[10]}

Conclusion

CDC is a rare, aggressive renal tumour that is frequently associated with nodal and visceral metastases at presentation. Since patients with CDC often present a poor prognosis, the early detection and diagnosis of this disease are vital. Advances in immunohistochemistry have aided in the diagnosis of this tumour. The early detection and nephrectomy offer the best chance of cure. Newer therapeutic modalities need to be explored and developed for treatment and improving the prognostic outcome of patients with this rare tumour.

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.

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