Sex Cord Stromal Tumors (SCSTs)

download bandiera-italiana_21034802 

What is a sex cord stromal tumors (SCST)?

SCSTs are rare tumors that may develop in the testis or ovary. These tumors develop from those supportive cells in the testis or the ovary. Normally these cells produce hormones, estrogens and/or testosterone.

Who gets a sex cord stromal tumor and why?

SCSTs may develop in all ages in children. Many SCSTs of the testis develop soon after birth or during the first year of life. However, SCSTs are also seen rarely in adolescent boys. The reason, why these tumors develop, is unclear. In contrast, ovarian SCSTs may occur at any age in childhood. A certain group, which most often develops during the second or third decade of life, and which is called a Sertoli-Leydig Cell tumor, may be associated with other tumors in the same patient or her family. In addition, these patients may have disorders of their thyroid. In these patients, researchers have often found a specific mutation in the DICER1 gene. Therefore, you should discuss with your child’s doctor whether a genetic testing is required. Rarely SCSTs are associated with Peutz Jeghers syndrome.

Are there risks to the brothers/sisters to develop the same cancer or other types of cancer?

If your child has a Sertoli-Leydig cell tumor, they may have genetic mutations in the DICER1 gene, therefore as above genetic testing maybe required for the family.

The SCSTs are all the same?

SCSTs may be very variable, both regarding the clinical presentation and their appearance under the microscope (histology). This reflects the different cell types in the testis and the ovary, from which these tumors may develop. In total, there are approximately a dozen different histological subtypes. The most important subtypes are the tumors with granulosa, Sertoli or Leydig cells or combinations of two or even three of these cell types plus or minus stromal cells.

What are the typical symptoms and sign of SCSTs?

The clinical symptoms vary according to the sex of the patient. Boys with testicular SCSTs present with enlargement of their testes. In contrast, the tumors diagnosed in girls are often much bigger. The clinical symptoms include abdominal discomfort or pain. Some girls report abdominal swelling. As these tumors may secrete hormones, young girls may show premature signs of puberty such as swelling of the breasts, development of pubic hair and even vaginal bleedings. If the tumors develop during puberty, there may be increased acne or excessive hirsuitism, and their periods may stop.

Which investigations are necessary to study a child with SCST?

Most SCSTs are diagnosed with an ultrasound scan first. After being diagnosed with SCSTs, your child may have further tests to check the size and position of the tumour and whether it has spread to other parts of their body. Tests may include:

  • MRI (magnetic resonance imaging) scan – this uses magnetism to build up a picture of your body.

Bloods for hormones and tumour markers such as AFP and inhibin.

Are there different stages of the disease?

Yes, most tumors are limited to the ovary or the testis. In ovarian tumors, metastases are also rare but the tumor may also spread by rupture of the tumor into the abdomen, or to lymph nodes or the liver. All SCTs rarely spread to distant sites.

What about the SCST treatment?

Testicular SCSTs usually just need removal of the tumour and testes. In ovarian tumors, complete surgical resection of the tumor and the ovary is the first and most important step of therapy, too. In most patients, no additional therapy is required. However, since spread may have occurred in up to 25% of patients, some patients require chemotherapy in order to prevent a relapse. The decision, which patients will require chemotherapy is based on the tumor stage and the type of tumour.

What are the results of treatment?

The prognosis of testicular SCSTs is excellent. In ovarian tumors, the prognosis is also good. However, it depends on the completeness of tumor resection, the initial tumor stage and the type of the tumor.

What research is happening for SCSTs?

The central collection of clinical data, national and international analysis of patients with SCSTs has allowed for the development of risk adapted treatment strategies. With these strategies, the prognosis of patients has improved. High risk patients can be detected, and low risk patients can be spared unnecessary chemotherapy. In addition, the combination of clinical and genetic studies has revealed insight into the underlying causes if some types of SCSTs, and this information is useful for guiding diagnostic assessment and follow-up in these patients and their families.

What EXPeRT is doing for children with SCSTs?

The main goals of EXPeRT for pediatric patients with SCSTs, include:

  • Collection of data of patients from European countries
  • Development and distribution of diagnostic and therapeutic recommendations
  • Providing treatment centers with an advisory service
  • Establishment a collaborative network with other international specialists
  • Support of genetic/biological projects.