Surgical management and molecular diagnosis of pediatric cystic nephroma: a single-center case series with implications for DICER1 syndrome surveillance

Introduction

Background

Pediatric cystic nephroma (pCN) is a rare, benign, multilocular cystic renal tumor that predominantly presents in children under the age of 2 years (1). Historically, pCN was considered part of a morphological continuum with cystic partially differentiated nephroblastoma (CPDN) and cystic Wilms tumor, all thought to originate from the nephrogenic blastema (2). However, advances in molecular genetics have redefined this paradigm. Germline mutations in the DICER1 gene were identified as the cause of familial pleuropulmonary blastoma (PPB) syndrome in 2009 (3,4). Subsequent research, notably by Doros, established that the vast majority of pCN cases are driven by DICER1 mutations, distinguishing it as a genetically unique entity different from CPDN and its adult counterpart (5). The DICER1 gene encodes a key RNase III endoribonuclease essential for the biogenesis of microRNAs (miRNAs) (6). Consequently, the 2016 World Health Organization (WHO) classification of renal tumors recognizes pCN as a distinct DICER1-associated lesion (7). Beyond the kidney, germline DICER1 mutations predispose individuals to a wide spectrum of benign and malignant neoplasms, including PPB, ovarian Sertoli-Leydig cell tumors, thyroid neoplasia, and ciliary body medulloepithelioma, collectively termed DICER1 tumor predisposition syndrome (8-10).

Rationale and knowledge gap

The diagnosis and management of pCN present several persistent challenges. Preoperatively, differentiating pCN from CPDN based on imaging findings alone remains difficult, which can impact surgical planning and family counseling (2,11,12). While the association between pCN and DICER1 is well-established, with an estimated 70–90% of cases harboring DICER1 alterations (5,8,13), the existing literature remains largely limited to case reports and small series. Crucially, there is a significant paucity of cases with comprehensive molecular characterization that concurrently documents both the germline and somatic DICER1 mutations. This gap limits a precise understanding of the genotype-phenotype correlation and underscores the need for more systematic genetic reporting.

From a surgical perspective, while complete resection is curative for the renal lesion, the optimal approach—radical versus nephron-sparing surgery (NSS)—especially for large or centrally located tumors, is not well-defined in the context of this benign but genetically significant tumor. Furthermore, the imperative for long-term, multi-organ surveillance in patients with germline mutations is a critical aspect of management that requires emphasis and structured protocols (10,14).

Objective

This case series aims to address these knowledge gaps by presenting a detailed analysis of five consecutive pediatric patients with pathologically confirmed pCN. Our primary objectives are threefold: (I) to provide comprehensive clinical, imaging, and surgical data, with a particular focus on evaluating the feasibility and outcomes of nephron-sparing surgical techniques, including robot-assisted laparoscopy, for tumors of varying sizes; (II) to contribute robust molecular data to the literature by systematically reporting the paired germline and somatic DICER1 mutation status for all patients, thereby enriching the limited pool of fully genetically characterized cases; (III) to highlight the critical importance of recognizing pCN as a sentinel manifestation of DICER1 syndrome, advocating for a paradigm shift in management from isolated surgical treatment to integrated, lifelong surveillance for associated extra-renal neoplasms. Through this work, we seek to refine diagnostic pathways, inform surgical decision-making, and reinforce the essential role of genetic testing and multidisciplinary follow-up in the care of children with pCN. We present this article in accordance with the AME Case Series reporting checklist (available at https://tau.amegroups.com/article/view/10.21037/tau-2026-0446/rc).

Case presentation

Study methods

Study design

This is a retrospective analysis of 5 patients with pCN treated at the Department of Urology, Children’s Hospital, Zhejiang University School of Medicine, between November 2020 and November 2024.

Setting

The study was conducted at the Department of Urology, Children’s Hospital, Zhejiang University School of Medicine. The data collection period was from November 2020 to November 2024, with follow-up ending in April 2026 (maximum follow-up duration: 64 months). All patient diagnosis, treatment and follow-up were completed in Children’s Hospital, Zhejiang University School of Medicine.

Participants

Characteristics: among the 5 patients, 3 were males (aged 7, 70, and 86 months) and 2 were females (aged 12 and 13 months); none had comorbidities.

Eligibility criteria

Inclusion criteria: (I) pathologically confirmed pCN; (II) genetic testing identified DICER1 mutations; (III) complete medical records (epidemiology, imaging, pathology, follow-up).

Exclusion criteria: (I) complicated with other genetic diseases; (II) missing medical records.

Intervention

Two patients underwent open nephrectomy, 1 underwent open partial nephrectomy, and 2 underwent robot-assisted laparoscopic partial nephrectomy using the Da Vinci surgical system. None of the 5 patients received radiotherapy or chemotherapy.

Follow-up

Postoperative follow-up was performed at 6-month intervals in all patients. Follow-up duration was 16–64 months (average: 50.2 months).

Ethical statement

All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Written informed consent for publication of this case series and accompanying images was waived according to the ethics committee of the Children’s Hospital, Zhejiang University School of Medicine.

Case information

Postoperative pathological examination confirmed cystic nephroma in all cases. Genetic analysis identified germline and somatic DICER1 mutations in every patient. Figure 1 illustrates the molecular testing algorithm for these patients. Table 1 summarizes the demographic, symptomatic, tumor-specific, imaging, surgical and follow-up data of the 5 patients. Table 2 summarizes the genetic results and family history of the 5 patients. Family histories were negative in all five cases. Genetic counseling was provided, recommending that all family members receive regular health screenings to facilitate the timely identification of potential anomalies.

Figure 1 Molecular testing algorithm for pCN patients. CAP, capture; HGMD, Human Gene Mutation Database; pCN, pediatric cystic nephroma.

Case 1

Radiological assessment demonstrated a large multilocular cystic-solid mass in the left kidney on ultrasound, contrast-enhanced computed tomography (CT), and magnetic resonance imaging (MRI) sequences (Figure 2). Given the preoperative imaging findings suggestive of CPDN, combined with intraoperative findings of a massive tumor occupying the entire kidney with an indistinct interface from normal tissue, an open radical nephrectomy was performed. At the 64-month follow-up, the patient remained free of tumor recurrence or any new neoplasms.

Figure 2 The representative imaging of ultrasonography, contrast-enhanced CT, and MRI for Case 1. (A) Ultrasonography revealed a mixed cystic and solid mass in the middle to lower pole of the left kidney, which was predominantly cystic with an indistinct interface from the renal parenchyma and minimal residual cortical echoes peripherally. (B-D) MRI showed a large mass characterized by long T1 and long T2 signal intensities. A small amount of residual normal renal parenchyma was visible posteriorly and medially to the mass, demonstrating smooth margins and extensive multilocular cystic changes. (E-H) Contrast-enhanced CT demonstrated a large, round cystic lesion containing internal septations with a honeycomb-like appearance; enhancement was observed in the capsule and septa. CT, computed tomography; MRI, magnetic resonance imaging.

Case 2

Given that preoperative imaging primarily suggested benign multilocular cystic nephroma, and despite the tumor’s large size, it was localized to the lower pole with a distinct boundary from the collecting system (Figure 3). Consequently, an open partial nephrectomy was performed, and intraoperative frozen section analysis initially indicated a benign tumor and confirmed negative margins. At the 63-month follow-up, the patient remained free of tumor recurrence or any new neoplasms.

Figure 3 The representative imaging of ultrasonography, contrast-enhanced CT, and MRI for Case 2. (A) Ultrasonography revealed a cystic mass in the lower pole of the right kidney with well-defined margins, an intact capsule, and multiple fine internal septations. A small amount of renal parenchyma was visible in the upper pole (measuring 3.7 cm × 2.8 cm), accompanied by pelvicalyceal separation of 1.8 cm. (B-D) MRI confirmed a giant multilocular cystic mass characterized by long T1 and long T2 signal intensities and well-defined borders. Multiple internal septations were present, and compression of the right renal pelvis resulted in hydronephrosis. (E-H) Contrast-enhanced CT demonstrated a large cystic mass in the right kidney containing multiple septations, with marked enhancement observed in the tumor margins and septa. The right upper pole parenchyma was preserved but partially thinned, with dilation of the right renal pelvis and calyces was noted. CT, computed tomography; MRI, magnetic resonance imaging.

Case 3

Radiological assessment demonstrated a giant multilocular cystic mass in the right kidney on ultrasound and contrast-enhanced CT (Figure 4). Due to the preoperative imaging findings that could not exclude CPDN, combined with intraoperative findings of a massive tumor occupying the entire kidney with an indistinct interface from the normal tissue, an open radical nephrectomy was performed. At the 58-month follow-up, the patient remained free of tumor recurrence or any new neoplasms.

Figure 4 The representative imaging of ultrasonography and contrast-enhanced CT for Case 3. (A) Ultrasonography revealed a cystic mass in the right kidney with a reticular internal pattern; a small amount of renal tissue was detectable in the upper pole. (B,C) Contrast-enhanced CT demonstrated a giant multilocular cystic mass in the right kidney with visible margins, and enhancement was observed in the tumor periphery and septa. MRI was not performed. CT, computed tomography; MRI, magnetic resonance imaging.

Case 4

Notably, this renal cystic lesion was first detected when the patient’s mother was at 6 months of gestation. Postnatal regular ultrasound monitoring revealed a gradual increase in the size of the lesion, which led to the decision for surgical resection.

Given that preoperative imaging primarily suggested a benign multilocular cystic tumor located in the upper pole without invasion of the collecting system (Figure 5), and considering the manageable tumor size, robot-assisted laparoscopic partial nephrectomy was selected as the surgical approach. However, intraoperative findings revealed no clear tumor boundary visible from the exterior of the kidney. Furthermore, as our center had just initiated robot-assisted laparoscopic partial nephrectomy at that time, our experience was limited. Intraoperative bleeding was significant, likely due to incomplete vascular occlusion caused by accessory vessels arising outside the renal pedicle. Additionally, since the tumor was predominantly cystic and intraoperative frozen section analysis indicated a benign pathology, a small portion of the cystic component was inevitably retained to avoid severe complications. Fortunately, the final pathological results also indicated that this was a benign lesion.

Figure 5 The representative imaging of ultrasonography, contrast-enhanced CT, and MRI for Case 4. (A) Ultrasound revealed a honeycomb-like structure in the upper pole of the right kidney. (B-D) MRI showed an irregular structure with long T1 and long T2 signals in the upper pole of the right kidney, composed of numerous cystic structures of varying sizes, causing compression of the normal renal parenchyma. (E-H) Contrast-enhanced CT indicated an irregular morphology in the upper pole of the right kidney, characterized by multiple cystic hypodense shadows with irregular margins and no significant enhancement; septations appeared to be present within the lesion. CT, computed tomography; MRI, magnetic resonance imaging.

During the 50-month follow-up, we observed no significant enlargement of the residual cystic portion and no occurrence of new tumors. However, thyroid ultrasound indicated “multiple colloid nodules, C-TIRADS category 2”.

Case 5

Given that preoperative imaging primarily suggested a benign multilocular cystic tumor located in the upper pole without invasion of the collecting system (Figure 6), and considering the manageable tumor size, robot-assisted laparoscopic partial nephrectomy was performed. By this stage, our institution had gained substantial experience, allowing for the smooth and complete resection of the mass.

Figure 6 The representative imaging of ultrasonography, contrast-enhanced CT, and MRI for Case 5. (A) Ultrasound revealed a large cystic mass in the upper pole of the right kidney with clear boundaries and multiple internal septations. (B-D) MRI showed a round-like mass with long T1 and long T2 signals in the upper pole of the right kidney, with relatively clear boundaries. (E-H) Contrast-enhanced CT indicated a round-like mass in the upper pole of the right kidney with well-defined margins; numerous septations were visible within the mass, showing enhancement. CT, computed tomography; MRI, magnetic resonance imaging.

During the 16-month follow-up, there was no tumor recurrence or occurrence of new tumors. However, thyroid ultrasound indicated “bilateral lobe nodules, C-TIRADS category 3”.

Adherence and loss to follow-up

All patients fully adhered to the surgery and follow-up plan.

Complications and adverse events

No postoperative complications or unanticipated adverse events occurred in any patient; the average postoperative hospital stay was 8.6 days (range, 5–12 days).

Discussion

Key findings

This case series of five pCN patients provides a nuanced view of the interplay between molecular diagnosis, surgical decision-making, and long-term syndromic management. The central molecular finding is the universal presence of DICER1 mutations (both germline and somatic) in all patients, definitively classifying these tumors within the DICER1 tumor predisposition syndrome spectrum.

Surgically, our experience highlights that the choice between radical and NSS is critically influenced by preoperative diagnostic uncertainty and intraoperative anatomical assessment, rather than tumor size alone. Cases 2 and 5 successfully underwent partial nephrectomy for large tumors (exceeding 8 cm) based on well-defined tumor-kidney interfaces on imaging. Conversely, Cases 1 and 3 required radical nephrectomy due to preoperative suspicion of CPDN and/or an indistinct tumor-parenchyma boundary found intraoperatively. Case 4 illustrates the learning curve and technical challenges of minimally invasive partial nephrectomy for multilocular cystic lesions.

Follow-up data (mean 50.2 months) confirm the excellent local control of completely resected pCN, with no local recurrences (except Case 4). In Case 4, the residual tumor component demonstrated no significant progression throughout the 50-month follow-up period. This stability underscores the indolent nature of pCN. Importantly, the emergence of thyroid nodules in Cases 4 and 5 during follow-up provides real-time clinical evidence of the multi-organ tumor risk inherent to DICER1 syndrome, underscoring that the renal tumor is often just the first manifestation (15,16).

Strengths and limitations

The primary strength of this study is the integration of detailed clinicoradiological narratives with comprehensive genetic confirmation for each case, offering a holistic view from presentation to long-term surveillance. The inclusion of varied surgical outcomes—successful partial nephrectomies, necessary radical nephrectomies, and a complicated partial resection—provides candid, practical insights that reflect the real-world surgical dilemmas beyond idealized scenarios. The documentation of emerging extra-renal findings (thyroid nodules) during follow-up powerfully reinforces the necessity of syndromic surveillance. However, limitations exist. The retrospective, single-center design and small sample size limit generalizability. The mean follow-up, while substantial, remains too short to fully assess the lifelong risk of other DICER1-associated malignancies like PPB or ovarian Sertoli-Leydig cell tumors (17,18). A key limitation, vividly demonstrated by Cases 1 and 3, is the persistent inability of preoperative imaging to reliably distinguish pCN from CPDN, a diagnostic ambiguity that directly drove more extensive surgery. Furthermore, as seen in Case 4, the technical difficulty of robot-assisted surgery for predominantly cystic, poorly demarcated lesions can lead to suboptimal resection margins, posing a potential, albeit low, risk for local recurrence.

Comparison with similar research

Our findings strongly align with the established molecular paradigm that pCN is a cardinal feature of DICER1 syndrome, as first solidified by Doros et al. and repeatedly confirmed (5). Our series makes a significant contribution by adding five new cases with paired germline-somatic mutation data to a very limited pool.

Regarding surgical management, our data support and refine the growing consensus favoring nephron preservation. While historical paradigms advocated radical nephrectomy for large tumors and partial nephrectomy for smaller lesions, our case suggests that surgical strategy and the feasibility of NSS should not be dictated solely by tumor dimensions. Instead, decision-making must integrate precise preoperative imaging characterization and the capability for accurate intraoperative localization. The challenging case (Case 4) echoes concerns in the literature about the difficulty of achieving negative margins in multilocular cystic lesions and the potential for complication.

The development of thyroid nodules in two patients aligns perfectly with the known tumor spectrum of DICER1 syndrome and mirrors findings in cohorts describing associated thyroid pathology (19).

Explanations of findings

The molecular findings explain the dual nature of pCN: a locally benign tumor but a systemic disease marker. The surgical outcomes are best explained by tumor anatomy and diagnostic confidence. The successful partial nephrectomies (Cases 2 & 5) were possible because the tumors exhibited a pushing, encapsulated border against compressible parenchyma, as classically described for pCN. The radical nephrectomies (Cases 1 & 3) resulted from the inability to preoperatively or intraoperatively rule out CPDN—a tumor with immature elements that may warrant more aggressive resection—and the lack of a clear dissection plane (20).

The thyroid nodules in follow-up are a direct consequence of the underlying germline DICER1 mutation, demonstrating the syndrome’s tissue-specific penetrance over time and validating the need for proactive surveillance (17,21).

Implications and actions needed

Our study yields several actionable implications for clinical practice:

• Enhanced diagnostic pathway: the diagnostic algorithm for a pediatric multilocular cystic renal mass must be revised. In addition to standard imaging, we propose that strong consideration of DICER1 syndrome should occur preoperatively. While not eliminating diagnostic uncertainty, this awareness changes the preoperative counseling framework to include discussion of hereditary cancer risk (22).
• Refined surgical strategy: surgical planning should be a two-tiered decision. First, NSS is the preferred approach for low-stage tumors when imaging indicates a well-encapsulated lesion with a clear plane (favoring pCN), resection is technically feasible, and the diagnosis is supported by DICER1 alterations or clinical history. Second, surgeons must be prepared for intraoperative conversion to radical nephrectomy if the tumor-parenchyma interface is indistinct, suggesting possible CPDN or invasive growth. Technical proficiency in partial nephrectomy for multilocular cystic lesions must be developed to avoid the pitfalls seen in our early experience.
• Mandatory post-resection management: the resection of the renal tumor is not the endpoint of care but the starting point of lifelong management. We recommend that genetic testing for DICER1 mutations (in blood and tumor) be mandated post-diagnosis. This should trigger immediate formal genetic counseling for the family and cascade testing. A structured, multidisciplinary surveillance protocol must be instituted, as evidenced by our patients developing thyroid nodules. This includes regular clinical exams, periodic chest imaging, and thyroid, renal, and age-appropriate pelvic ultrasonography, following established international guidelines (23-25).
• Registry contribution: reporting such detailed cases to international registries (e.g., International PPB/DICER1 Registry) is crucial to better define surgical outcomes, long-term risks, and optimize surveillance schedules for this rare patient population (1).

Conclusions

In summary, this case series reports the correlation between pCN and DICER1-mutation, with an excellent prognosis following complete surgical resection. The feasibility of NSS, even for large tumors, supports the goal of renal preservation. Critically, the diagnosis of pCN serves as a sentinel for DICER1 tumor predisposition syndrome, mandating a shift from isolated surgical care to lifelong, multidisciplinary surveillance for associated extra-renal neoplasms to optimize long-term patient outcomes.

Acknowledgments

We would like to thank the members of the Department of Urology for their invaluable advice and assistance, as well as the members of the Department of Ultrasound and Radiology for their collaboration and support.

Footnote

Reporting Checklist: The authors have completed the AME Case Series reporting checklist. Available at https://tau.amegroups.com/article/view/10.21037/tau-2026-0446/rc

Peer Review File: Available at https://tau.amegroups.com/article/view/10.21037/tau-2026-0446/prf

Funding: This work was supported by the Key R&D Program of Zhejiang (No. 2023C03047) and the National Key R&D Program of China (No. 2021YFC2701900).

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://tau.amegroups.com/article/view/10.21037/tau-2026-0446/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Written informed consent for publication of this case series and accompanying images was waived according to the ethics committee of the Children’s Hospital, Zhejiang University School of Medicine.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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