Extragonadal germ cell tumor

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ORPHA:363579
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3Active trials42Specialists8Treatment centers

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

Extragonadal germ cell tumors (EGCTs) are rare neoplasms that arise from germ cells located outside the gonads (ovaries and testes). These tumors develop along the body's midline, most commonly in the mediastinum (chest), retroperitoneum (back of the abdomen), sacrococcygeal region (base of the spine), and the pineal or suprasellar regions of the brain. They are thought to originate from primordial germ cells that failed to migrate properly to the gonads during embryonic development. EGCTs can be benign (such as mature teratomas) or malignant, and malignant subtypes include seminomas (also called germinomas when in the brain), yolk sac tumors, embryonal carcinomas, choriocarcinomas, and mixed germ cell tumors. Symptoms depend on the tumor's location and size. Mediastinal EGCTs may cause chest pain, cough, shortness of breath, and superior vena cava syndrome. Retroperitoneal tumors can present with abdominal pain, a palpable mass, or back pain. Intracranial EGCTs may cause headaches, visual disturbances, hormonal abnormalities (such as diabetes insipidus or precocious puberty), and signs of increased intracranial pressure. Some tumors produce elevated serum markers, including alpha-fetoprotein (AFP) and beta-human chorionic gonadotropin (beta-hCG), which are important for diagnosis and monitoring. Treatment typically involves a combination of cisplatin-based chemotherapy and surgical resection, depending on the tumor type, location, and stage. Seminomatous EGCTs are generally highly sensitive to chemotherapy and radiation therapy, while nonseminomatous tumors often require multimodal therapy including surgery. Mediastinal nonseminomatous germ cell tumors carry a poorer prognosis compared to other sites. Intracranial germinomas are often treated with chemotherapy and/or radiation with favorable outcomes. Early diagnosis and referral to specialized centers are critical for optimal management.

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

3 events
Mar 2024High-dose Chemotherapy as Second-line Drug Therapy for Relapsed Germ Cell Tumors

N.N. Petrov National Medical Research Center of Oncology — PHASE2

TrialRECRUITING
May 2017Active Surveillance, Bleomycin, Etoposide, Carboplatin or Cisplatin in Treating Pediatric and Adult Patients With Germ Cell Tumors

Children's Oncology Group — PHASE3

TrialRECRUITING
Aug 2015Standard-Dose Combination Chemotherapy or High-Dose Combination Chemotherapy and Stem Cell Transplant in Treating Patients with Relapsed or Refractory Germ Cell Tumors

Alliance for Clinical Trials in Oncology — PHASE3

TrialACTIVE NOT RECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Extragonadal germ cell tumor.

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

View clinical trials →

Clinical Trials

3 recruitingView all trials with filters →
Phase 32 trials
Standard-Dose Combination Chemotherapy or High-Dose Combination Chemotherapy and Stem Cell Transplant in Treating Patients with Relapsed or Refractory Germ Cell Tumors
Phase 3
Active
PI: Darren Feldman, MD (Memorial Sloan Kettering Cancer Center) · Sites: Birmingham, Alabama; La Jolla, California +123 more · Age: 1499 yrs
Active Surveillance, Bleomycin, Etoposide, Carboplatin or Cisplatin in Treating Pediatric and Adult Patients With Germ Cell Tumors
Phase 3
Actively Recruiting
PI: A. L Frazier (Children's Oncology Group) · Sites: Birmingham, Alabama; Mobile, Alabama +18 more
Phase 21 trial
High-dose Chemotherapy as Second-line Drug Therapy for Relapsed Germ Cell Tumors
Phase 2
Actively Recruiting
PI: Aleksei M Belyaev, MD,DSc,Prof. (National Medical Research Center of Oncology named) · Sites: Saint Petersburg, Russian Federation · Age: 1899 yrs

Specialists

Showing 25 of 42View all specialists →
JP
James F. Amatruda, MD, PhD
DALLAS, TX
Specialist
PI on 1 active trial
DM
Darren Feldman, MD
NEW YORK, NY
Specialist
PI on 8 active trials
BP
BioNTech Responsible Person
Specialist
PI on 18 active trials
AF
A. L Frazier
Birmingham, Alabama
Specialist

Rare Disease Specialist

PI on 1 active trial19 Extragonadal germ cell tumor publications
AM
Aleksei M Belyaev, MD,DSc,Prof.
Specialist
PI on 1 active trial
AM
AeRang Kim, MD
BETHESDA, MD
Specialist
PI on 2 active trials1 Extragonadal germ cell tumor publication
AM
Anne Frazier, MD
Specialist
PI on 1 active trial1 Extragonadal germ cell tumor publication
GM
Gnanamba V. Kondagunta, MD
MIDDLETOWN, NY
Specialist
PI on 3 active trials
AM
Anna Pawlowska, MD
DUARTE, CA
Specialist
PI on 3 active trials
OB
Orren Beaty
Specialist
PI on 1 active trial
DM
Dean F. Bajorin, MD
NEW YORK, NY
Specialist
PI on 5 active trials
SB
Steven M. Neil, MB, MA, BS
Specialist
PI on 1 active trial
JS
Judith K. Sato
DUARTE, CA
Specialist
PI on 1 active trial
PB
Pierre Biron
Specialist
PI on 1 active trial
NW
Norma Wollner
Specialist
PI on 2 active trials
GM
G. Mead
Specialist
PI on 1 active trial
AO
A. Oakhill
Specialist
PI on 1 active trial
MM
Mark M. Moasser
SAN FRANCISCO, CA
Specialist
PI on 1 active trial
DH
David D. Hurd
Specialist
PI on 1 active trial
MW
Michael Williams
Specialist
PI on 1 active trial
JH
Juliet Hale
Specialist
PI on 1 active trial
JP
Jose-Louis Pico
Specialist
PI on 1 active trial

Treatment Centers

8 centers
⚗️ Trial Site

Arkansas Children's Hospital

📍 Little Rock, Arkansas

⚗️ Trial Site

Banner University Medical Center - Tucson

📍 Tucson, Arizona

⚗️ Trial Site

University of Arkansas for Medical Sciences

📍 Little Rock, Arkansas

⚗️ Trial Site

Kingman Regional Medical Center

📍 Kingman, Arizona

⚗️ Trial Site

CHI Saint Vincent Cancer Center Hot Springs

📍 Hot Springs, Arkansas

⚗️ Trial Site

University of Arizona Cancer Center-North Campus

📍 Tucson, Arizona

⚗️ Trial Site

Cancer Center at Saint Joseph's

📍 Phoenix, Arizona

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

Travel Grants

No travel grants are currently matched to Extragonadal germ cell tumor.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Extragonadal germ cell tumor

Disease timeline:

New recruiting trial: High-dose Chemotherapy as Second-line Drug Therapy for Relapsed Germ Cell Tumors

A new clinical trial is recruiting patients for Extragonadal germ cell tumor

New recruiting trial: Active Surveillance, Bleomycin, Etoposide, Carboplatin or Cisplatin in Treating Pediatric and Adult Patients With Germ Cell Tumors

A new clinical trial is recruiting patients for Extragonadal germ cell tumor

New trial: Active Surveillance, Bleomycin, Etoposide, Carboplatin or Cisplatin in Treating Pediatric and Adult

Phase PHASE3 trial recruiting. Best Practice

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 Extragonadal germ cell tumor

What is Extragonadal germ cell tumor?

Extragonadal germ cell tumors (EGCTs) are rare neoplasms that arise from germ cells located outside the gonads (ovaries and testes). These tumors develop along the body's midline, most commonly in the mediastinum (chest), retroperitoneum (back of the abdomen), sacrococcygeal region (base of the spine), and the pineal or suprasellar regions of the brain. They are thought to originate from primordial germ cells that failed to migrate properly to the gonads during embryonic development. EGCTs can be benign (such as mature teratomas) or malignant, and malignant subtypes include seminomas (also cal

How is Extragonadal germ cell tumor inherited?

Extragonadal germ cell tumor follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Are there clinical trials for Extragonadal germ cell tumor?

Yes — 3 recruiting clinical trials are currently listed for Extragonadal germ cell tumor on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Extragonadal germ cell tumor?

25 specialists and care centers treating Extragonadal germ cell tumor are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.