Sex Cord Stromal Tumors (SCSTs)

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What are the sex cord stromal tumors (SCSTs)?  

SCSTs are very rare tumors that may develop in the testis or the ovary. These tumors develop from the supportive cells of these organs. Normally these cells produce hormones, such as: estrogens and/or testosterone. This explains why SCSTs can produce hormones in excess. 

Who gets a sex cord stromal tumor and why?  

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

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 and a DICER1 mutation has been found, it is possible that the sisters and brothers may also have the DICER1 mutation. In such a case, they may need the consultation of a geneticist and genetic testing and counseling. In children with DICER1 mutations, the risk to develop a Sertoli-Leydig cell tumor or another cancer does exist even if it remains low. 

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 of the SCSTs. The most important subtypes are the tumors composed of the granulosa cells, Sertoli or Leydig cells or the combinations of two or even three of these cell types with or without the stromal cells. 

What are the typical symptoms and sign of SCSTs? 

The clinical symptoms vary in females and males. Boys with testicular SCSTs present with painless enlargement of one testis. In contrast, the tumors diagnosed in girls are usually very big, causing 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 which develop during puberty, there may be excessive acne or hirsutism, 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 need further tests to check the size and location of the tumor and whether it has spread to other parts of the body. These tests may include: 

  • MRI (magnetic resonance imaging) – this method uses magnetism to build up a very detailed picture of the body. 
  • CT (computerized tomography) scan – this method uses x-rays to build up a three-dimensional picture the body. 

Bloods tests for the levels of hormones and the tumor markers, such as alfa-fetoprotein (AFP) and inhibin, are performed. 

Are there different stages of the disease? 

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

What about the SCSTs treatment? 

Testicular SCSTs usually just need removal of the tumor and a testis. In ovarian tumors, complete surgical resection of the tumor and the ovary is also the first and most important step of therapy. In most patients, no additional therapy is needed. However, since the SCST’s may have spread outside the tumor in up to 25% of patients, some patients require chemotherapy in order to prevent relapse. The decision to give chemotherapy is based on the type of SCST and the tumor stage. 

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 carried out for SCSTs? 

The central collection of clinical data of patients with SCSTs and their national and international analysis has allowed for the development of risk-adapted treatment strategies. With these strategies, the prognosis of patients has improved significantly. High risk patients can be identified and proposed adequate therapy while low risk patients can be spared unnecessary chemotherapy. In addition, the combination of clinical and genetic studies revealed insight into the underlying causes in some types of SCSTs. 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.