Short summary

In neonates and children, the most common extragonadal GCT's are sacrococcygeal teratomas (SCT's). A large part of the patients experiences sequelae with significant impact on quality of life, despite of curative surgical treatment of the tumor. This study is a nation-wide retrospective register-based cohort study, and we aim to uncover the prevalence of SCT in children in Denmark and evaluate the short- and long-term results of treatment and outcome for children with SCT.

Rationale

Germinal cell tumors (GCT's) that emerges outside the testicles or ovaries are classified as extragonadal. In neonates and children, the most common extragonadal GCT's are sacrococcygeal teratomas (SCT's). These tumors are rare and there is a paucity of birth prevalence data, which is estimated to be 1 out of 14.000 - 1 of 29.000 live births. Nonetheless it is one of the most common tumors in neonates.

Around 50% of the patients are diagnosed with SCT prenatally via fetal ultrasound, while the rest is diagnosed either shortly after birth or later during childhood.

The treatment for SCT's involves complete surgical resection of the tumor, including removal of the coccyx to avoid the risk of malignant transformation of a residual disease. For patients with malignant SCT's, the treatment will also potentially include chemotherapy and radiotherapy.

SCT's may be associated with abnormalities in the nervous-, cardiac-, urogenital and/or musculo-skeletal systems. In addition, a large part of the patients experience sequelae with significant impact on quality of life, despite of curative surgical treatment of the tumor. These sequelae include anorectal and urological complications such as bowel dysfunction including fecal incontinence, chronic constipation, neurogenic bladder, vesico-ureteral reflux, chronical pain, and urine incontinence. However, the frequency and severity of these sequelae is not well researched in this group of patients.

The aims of this study is to uncover the birth prevalence and prenatal detection rate of SCT in children in Denmark and evaluate the short- and long-term results of treatment for SCT, including the incidence and severity of urological and anorectal complications. In addition to this, we also aim to evaluate the impact of pre- and postnatal risk factors on treatment outcomes and to uncover the incidence of associated abnormalities in the nervous-, cardiac-, urogenital and/or musculoskeletal systems. Furthermore, through a questionnaire survey we will evaluate the impact of urological and anorectal complications on the patient's quality of life and to identify subgroups of patients with a high risk of low quality of life.

Description of the cohort

Patients in the age group of 0-18 years who was diagnosed with SCT in Denmark in the period of 1995-2021 are included in the study. Our cohort of patients will derive from combined data from The Danish National Registry of Patients and the national Pathology Data Bank combined with data from The Danish Medical Birth Register and the Danish fetal medicine database.

Data and biological material

The data used comes from a retrospective medical record review and from selected Danish health registers.

Information regarding pregnancy, patient, and tumor characteristics as well as diagnose, treatment, complications and sequelae will be extracted from the patients' medical records.

Patients that have been treated for SCT are contacted with an age-adjusted questionnaire focusing on consequences of the disease and treatment as well as quality of life.

Collaborating researchers and departments

Department of Pediatrics

• Mathias Rathe

Department of Surgery

• Mark Bremholm Ellebæk

Department of Gynaecology and obstetrics

• Lene Sperling