Infantile Germ Cell Tumor

Childhood germ cell tumor (GCT) is a type of developmental cancer that originates in germ cells, which are the cells that create the reproductive organs (testicles in males and ovaries in females).

This type of tumor can affect children, teenagers and young adults. They can be cancerous (malignant) or non-cancerous (benign).

INCIDENCE

In Spain, malignant germ cell tumors account for 3.5% of cases in children up to 15 years of age and 12% in children over 15 years of age. At the Hospital San Juan de Dios in Barcelona, between 5 and 10 cases are registered each year.

Germ cell tumors can grow in different parts of the body depending on their type.

Most originate in the ovaries or testes and are called "gonadal"

But also, the cell that mutates at the time of creating the reproductive organ, can travel and form the tumor outside the ovaries or testicles. These tumors are called "extragonadal". They can originate in the following areas:

  • Brain (Intracranial germ cell tumors account for 3% to 5% of childhood brain tumors).

  • Neck.

  • The space between the lungs (mediastinum).

  • The posterior part of the abdomen (retroperitoneal).

  • The lower part of the spine (sacrum, coccyx).

There are several types of infantile germ cell tumors, the most common being teratoma and yolk sac tumor.

Symptoms may vary depending on the location of the tumor, but may include swelling or pain in the abdomen, lower back pain and other related symptoms such as enlargement of the testicles in males.

Diagnosis is made by medical tests such as ultrasound, blood tests, biopsies and imaging scans.

Treatment depends on the type and stage of the tumor, but usually includes surgery to remove the tumor, followed by chemotherapy and, in some cases, radiation therapy.

The cause of GCT is not clearly established, it is thought that they may be due to a block in germ cell maturation, initiated in fetal life, and induced by genetic and/or epigenetic alterations. They can appear in the neonatal period, adolescence, youth and adulthood.

The prognosis is usually encouraging, especially if detected and treated in early stages. The survival rate is high in many cases (90% in developed countries).

It is important to note that treatment and prognosis may vary depending on the specific type and severity of the tumor in each case.

The assessment of response to treatment, especially in the interpretation of residual masses and early detection of relapses, is affected by the lack of sensitivity and specificity of classical tools.

Due to the rarity of childhood germ cell tumors, research and awareness are critical to improve early detection and treatment.

Research is the only way to advance in the improvement of its treatment.

It is for this reason that in 2022, Asociación Benéfica Anita created the M371 TEST-GCT Pediatric Biomarker research project, specific of the Pediatric Germ Cell Tumor, at the Pediatric Cancer Center Barcelona research laboratory.

This is an open clinical trial to evaluate the role of this new biomarker (miRNA 371) in order to better individualize treatments for this type of tumor.

This new project is open to all Spanish pediatric oncology centers, through the Spanish Society of Pediatric Oncology (SEHOP), which allows the inclusion of all children and teenagers diagnosed with a malignant germ cell tumor in Spain.