Testicular seminomatous germ cell tumor

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ORPHA:842OMIM:273300C62.9
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19Specialists8Treatment centers

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Overview

Testicular seminomatous germ cell tumor, also known as testicular seminoma, is a malignant neoplasm arising from the germ cells of the testis. It is the most common single histological type of testicular germ cell tumor, accounting for approximately 40-50% of all testicular germ cell tumors. Seminomas originate from transformed gonocytes or undifferentiated spermatogonia within the seminiferous tubules and are frequently preceded by germ cell neoplasia in situ (GCNIS), formerly known as intratubular germ cell neoplasia. The disease primarily affects the male reproductive system, though advanced cases may metastasize to retroperitoneal lymph nodes, lungs, and other organs. The most common presenting symptom is a painless testicular mass or swelling, though some patients may experience testicular discomfort, heaviness in the scrotum, or dull aching in the lower abdomen or groin. Serum tumor markers, particularly elevated beta-human chorionic gonadotropin (beta-hCG) in some cases and lactate dehydrogenase (LDH), may be present, though alpha-fetoprotein (AFP) is characteristically not elevated in pure seminomas. Established risk factors include cryptorchidism (undescended testis), personal or family history of testicular germ cell tumor, testicular dysgenesis, and disorders of sex development. There is evidence of genetic susceptibility, with genome-wide association studies identifying multiple susceptibility loci including variants in KITLG, DMRT1, and other genes. Treatment is highly effective and depends on stage at diagnosis. Radical inguinal orchiectomy is the initial treatment for all stages. For early-stage disease, options include active surveillance, adjuvant radiotherapy, or single-agent carboplatin chemotherapy. Advanced-stage seminoma is treated with cisplatin-based combination chemotherapy, which achieves high cure rates. Overall, seminoma has an excellent prognosis, with five-year survival rates exceeding 95% for all stages combined.

Also known as:

Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

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

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No actively recruiting trials found for Testicular seminomatous germ cell tumor at this time.

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Specialists

19 foundView all specialists →
TP
Torgrim Tandstad, MD PhD
Specialist
PI on 1 active trial
OP
Olof Ståhl, Md PhD
Specialist
PI on 1 active trial
RM
Robert Hamilton, MD
Specialist
PI on 1 active trial
DM
Darren Feldman, MD
NEW YORK, NY
Specialist
PI on 8 active trials
AF
A. L Frazier
Birmingham, Alabama
Specialist

Rare Disease Specialist

PI on 1 active trial19 Testicular seminomatous germ cell tumor publications
SP
Sandip P Patel
Birmingham, Alabama
Specialist

Rare Disease Specialist

PI on 1 active trial
PC
Professor Michael Cullen
Specialist
PI on 1 active trial4 Testicular seminomatous germ cell tumor publications
GM
Gnanamba V. Kondagunta, MD
MIDDLETOWN, NY
Specialist
PI on 3 active trials
DF
Darren Feldman
NEW YORK, NY
Specialist
PI on 1 active trial36 Testicular seminomatous germ cell tumor publications
AM
Anna Pawlowska, MD
DUARTE, CA
Specialist
PI on 3 active trials
SD
Siamak Daneshmand
LOS ANGELES, CA
Specialist
PI on 1 active trial3 Testicular seminomatous germ cell tumor publications
JP
Jenny Poynter
EUGENE, OR
Specialist
PI on 1 active trial9 Testicular seminomatous germ cell tumor publications

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

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Common questions about Testicular seminomatous germ cell tumor

What is Testicular seminomatous germ cell tumor?

Testicular seminomatous germ cell tumor, also known as testicular seminoma, is a malignant neoplasm arising from the germ cells of the testis. It is the most common single histological type of testicular germ cell tumor, accounting for approximately 40-50% of all testicular germ cell tumors. Seminomas originate from transformed gonocytes or undifferentiated spermatogonia within the seminiferous tubules and are frequently preceded by germ cell neoplasia in situ (GCNIS), formerly known as intratubular germ cell neoplasia. The disease primarily affects the male reproductive system, though advanc

How is Testicular seminomatous germ cell tumor inherited?

Testicular seminomatous germ cell tumor follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Testicular seminomatous germ cell tumor typically begin?

Typical onset of Testicular seminomatous germ cell tumor is adult. Age of onset can vary across affected individuals.

Which specialists treat Testicular seminomatous germ cell tumor?

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