Nephroblastoma

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ORPHA:654OMIM:194070C64
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5Active trials24Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Nephroblastoma, commonly known as Wilms tumor, is the most common malignant kidney tumor of childhood. It arises from embryonal renal tissue (metanephric blastema) and typically presents as an abdominal mass, often discovered incidentally by a parent or during a routine examination. The tumor primarily affects the kidneys but can spread to the lungs, liver, and rarely to other sites. Key clinical features include a palpable abdominal or flank mass, abdominal pain, hematuria (blood in the urine), fever, and occasionally hypertension. Some children may also present with aniridia, genitourinary anomalies, or hemihypertrophy, which are features associated with predisposition syndromes such as WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability), Denys-Drash syndrome, and Beckwith-Wiedemann syndrome. The molecular pathogenesis of nephroblastoma involves several genes, most notably WT1 (located on chromosome 11p13) and WT2 (at 11p15.5), as well as other loci including WTX (on the X chromosome) and mutations in CTNNB1. Approximately 1-2% of cases are familial, while the vast majority are sporadic. Bilateral tumors occur in about 5-10% of cases and are more frequently associated with germline genetic alterations. Treatment of nephroblastoma is one of the great success stories of pediatric oncology. Current management involves a multimodal approach including surgical resection (nephrectomy), chemotherapy, and in some cases radiation therapy. Treatment protocols differ between North America (Children's Oncology Group, which favors upfront surgery) and Europe (SIOP, which uses preoperative chemotherapy). Overall survival rates now exceed 90% for localized disease with favorable histology. Prognosis is less favorable for tumors with anaplastic (unfavorable) histology or advanced-stage disease, though outcomes continue to improve with refined risk stratification and treatment protocols.

Also known as:

Clinical phenotype terms— hover any for plain English:

NephroblastomaHP:0002667Abdominal massHP:0031500Duplication of renal pelvisHP:0005580Macroscopic hematuriaHP:0012587Ectopic kidneyHP:0000086AniridiaHP:0000526HemihypertrophyHP:0001528PolycythemiaHP:0001901Neoplasm of the liverHP:0002896
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

5 events
Apr 2025A Study Using Risk Factors to Determine Treatment for Children With Favorable Histology Wilms Tumors (FHWT)

Children's Oncology Group — PHASE3

TrialRECRUITING
Aug 2023A Study of Selinexor in People With Wilms Tumors and Other Solid Tumors

Memorial Sloan Kettering Cancer Center — PHASE2

TrialRECRUITING
Sep 2022Metronomic Chemotherapy in Wilms Tumor (MetroWilms-1906)

Centre Oscar Lambret — PHASE1, PHASE2

TrialRECRUITING
Aug 2021Treatment of Newly Diagnosed Patient's With Wilm's Tumor Requiring Abdominal Radiation Delivered With Proton Beam Irradiation

St. Jude Children's Research Hospital — PHASE2

TrialRECRUITING
Jul 2020Therapeutic Recommendations for Nephroblastoma

French Africa Pediatric Oncology Group

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Nephroblastoma.

5 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

5 recruitingView all trials with filters →
Phase 31 trial
A Study Using Risk Factors to Determine Treatment for Children With Favorable Histology Wilms Tumors (FHWT)
Phase 3
Actively Recruiting
PI: Elizabeth A Mullen (Children's Oncology Group) · Sites: Birmingham, Alabama; Mobile, Alabama +151 more · Age: 030 yrs
Phase 22 trials
A Study of Selinexor in People With Wilms Tumors and Other Solid Tumors
Phase 2
Actively Recruiting
PI: Michael Ortiz, MD (Memorial Sloan Kettering Cancer Center) · Sites: Los Angeles, California; Palo Alto, California +13 more
Treatment of Newly Diagnosed Patient's With Wilm's Tumor Requiring Abdominal Radiation Delivered With Proton Beam Irradiation
Phase 2
Actively Recruiting
PI: Matthew J Krasin, MD (St. Jude Children's Research Hospital) · Sites: Memphis, Tennessee
Other1 trial
Therapeutic Recommendations for Nephroblastoma
Actively Recruiting
PI: Fatou Binetou Ms DIAGNE AKONDE, Dr (French Africa Pediatric Oncology Group) · Sites: Ouagadougou; Abidjan, Abidjan Autonomous District +5 more · Age: 018 yrs

Specialists

24 foundView all specialists →
MM
Minocher Battiwalla, MD
NASHVILLE, TN
Specialist
PI on 2 active trials
VP
Vicki Huff, PhD
Specialist
PI on 1 active trial
ZP
Zwi N Berneman, MD, PhD
Specialist
PI on 3 active trials
EM
Elizabeth J. Perlman, MD
NEW YORK, NY
Specialist
PI on 2 active trials
DM
David Steffin, MD
HOUSTON, TX
Specialist
PI on 3 active trials
MI
Meredith S Irwin
CINCINNATI, OH
Specialist
PI on 1 active trial
RM
Rajen Mody
ANN ARBOR, MI
Specialist
PI on 2 active trials
PM
Paul Martin
Specialist
PI on 3 active trials73 Nephroblastoma publications
DM
David Reardon, MD
Specialist
PI on 3 active trials
CM
Chris DeRenzo, MD
MEMPHIS, TN
Specialist
PI on 1 active trial
AM
Anna Pawlowska, MD
DUARTE, CA
Specialist
PI on 3 active trials
CM
Christine Hill-Kayser, MD
PHILADELPHIA, PA
Specialist
PI on 1 active trial
CM
Catherine Albert, MD
Specialist
PI on 3 active trials
MB
Merav Bar
SEATTLE, WA
Specialist
PI on 1 active trial2 Nephroblastoma publications
EM
Elizabeth Perlman, MD
NEW YORK, NY
Specialist
PI on 2 active trials
MM
Muna Qayed, MD
ATLANTA, GA
Specialist
PI on 2 active trials
DP
David Chung, MD, PhD
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Nephroblastoma.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Nephroblastoma

Disease timeline:

New recruiting trial: A Study Using Risk Factors to Determine Treatment for Children With Favorable Histology Wilms Tumors (FHWT)

A new clinical trial is recruiting patients for Nephroblastoma

New recruiting trial: CUE-102 in Recurrent Glioblastoma

A new clinical trial is recruiting patients for Nephroblastoma

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Nephroblastoma

What is Nephroblastoma?

Nephroblastoma, commonly known as Wilms tumor, is the most common malignant kidney tumor of childhood. It arises from embryonal renal tissue (metanephric blastema) and typically presents as an abdominal mass, often discovered incidentally by a parent or during a routine examination. The tumor primarily affects the kidneys but can spread to the lungs, liver, and rarely to other sites. Key clinical features include a palpable abdominal or flank mass, abdominal pain, hematuria (blood in the urine), fever, and occasionally hypertension. Some children may also present with aniridia, genitourinary a

At what age does Nephroblastoma typically begin?

Typical onset of Nephroblastoma is childhood. Age of onset can vary across affected individuals.

Are there clinical trials for Nephroblastoma?

Yes — 5 recruiting clinical trials are currently listed for Nephroblastoma on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Nephroblastoma?

24 specialists and care centers treating Nephroblastoma are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.