Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature

Abstract

In children presenting with a predominantly cystic renal tumor, the most likely diagnoses include cystic partially differentiated nephroblastoma (CPDN) and cystic nephroma (CN). Both entities are rare and limited information on the clinical and molecular characteristics, treatment, and outcome is available since large cohort studies are lacking. We performed an extensive literature review, in which we identified 113 CPDN and 167 CN. The median age at presentation for CPDN and CN was 12 months (range: 3 weeks–4 years) and 16 months (prenatal diagnosis–16 years), respectively. No patients presented with metastatic disease. Bilateral disease occurred in both entities. Surgery was the main treatment for both. Two/113 CPDN patients and 26/167 CN patients had previous, concomitant, or subsequent other tumors. Unlike CPDN, CN was strongly associated with somatic (n = 27/29) and germline (n = 12/12) DICER1-mutations. Four CPDN patients and one CN patient relapsed. Death was reported in six/103 patients with CPDN and six/118 CN patients, none directly due to disease. In conclusion, children with CPDN and CN are young, do not present with metastases, and have an excellent outcome. Awareness of concomitant or subsequent tumors and genetic testing is important. International registration of cystic renal tumor cohorts is required to enable a better understanding of clinical and genetic characteristics.

Fifty years of clinical and research studies for childhood renal tumors within the International Society of Pediatric Oncology (SIOP)

“…Radiology Diffusion weighted MRI is helpful in characterizing renal tumors Outcome of patients with CT-only lung metastasis is inferior to no metastasis Specific renal tumors require biopsy before preoperative chemotherapy ( 14), ( The basis for the current UMBRELLA study is summarized in several reviews on Nephroblastoma, 13,37,38 relapse treatment, 39,40 pathology and biology, 41 but also on different non-WTs. [42][43][44][45][46] Over the last decades collaboration and exchange of knowledge between SIOP-RTSG and the Children's Oncology Group Renal Tumor Committee has developed resulting in a number of papers such as renal tumors of early age, 47 a meta-analysis of high dose chemotherapy, 48 late relapses, 49 the advances of international collaboration 50 and new approaches to risk stratification for WT. 51 In 2015 the task force HARMONICA (HARMONIzation and CollAboration for pediatric renal tumors) was established as an exchange platform, building on the expertise of both large study groups, enhancing international collaboration and supporting Young Investigators interested in renal tumors in childhood.…”

Pediatric cystic nephroma: clinical and molecular genetic characteristics

“…Сделан вывод, что гистологическое исследование позволяет установить окончательный диагноз, а наличие солидных элементов исключает КН и КЧДН. У пациентов с КН описывается необходимость проведения молекулярно-генетического исследования в целях поиска герминальных мутаций в гене DICER1, носителям может быть предложен протокол динамического наблюдения для раннего выявления опухолей других локализаций [24].…”

“…отмечено, что 9 из 167 больных с КН получали предоперационную терапию, ответ был зарегистрирован лишь у 1 пациента с билатеральной КН. Послеоперационный курс химиотерапии был проведен 5 пациентам в связи с сопутствующей ППБ, быстрым ростом КН до операции и подозрением на нефробластому [24]. Важно подчеркнуть, что в случае гистологического подтверждения диагноза КН адъювантная терапия также не показана.…”

“…Так, в наиболее крупном обзоре исследований представлено описание группы из 167 больных c КН, из них у 1 пациента выявлен локальный рецидив, который, по мнению авторов, мог быть обусловлен неполной резекцией. В 6 случаях зарегистрирован летальный исход, связанный с послеоперационным сепсисом и другими сопутствующими заболеваниями [24]. В нашем исследовании в 100% случаев исход был благоприятным, рецидивов заболевания не отмечено.…”

Characteristics and outcome of children with renal tumors in the Netherlands: The first five-year’s experience of national centralization

“…Except for diffuse anaplastic and blastemal type WT cases, overall survival rates are excellent (~90%) for unilateral WTs and evidence-based treatment reduction strategies are already being pursued over the past 2 decades [ 18 , 19 ]. Cystic partially differentiated nephroblastoma (CPDN) is considered a low risk nephroblastoma with excellent survival [ 20 ]. Similar high survival rates apply to, amongst others, MN, (mostly DICER1 driven) CN, angiomyolipomas and metanephric (fibro-)adenomas which have excellent outcomes, treated by surgery only [ 2 , 20 , 21 ].…”