Paeds · haematology-oncology-and-transfusion

Germ-cell tumours

Also known as Paediatric germ cell tumours · Childhood germ cell tumour · Sacrococcygeal teratoma · Yolk sac tumour · Dysgerminoma · Intracranial germinoma · Nongerminomatous germ cell tumour · Nonseminomatous germ cell tumour

Fellowship guide to germ cell tumours in children. Covers the primordial germ cell origin and the midline distribution from sacrococcygeal teratoma through mediastinal and gonadal sites to the intracranial pineal and suprasellar region, the bimodal age peaks of the infant teratoma and the adolescent gonadal tumour, the tumour markers alpha-fetoprotein from the yolk sac and immature elements and beta-human chorionic gonadotropin from the choriocarcinoma and the syncytiotrophoblastic germinoma, the Altman classification of the sacrococcygeal teratoma and the imperative of the coccygectomy, the urgent serum marker and imaging pathway, the platinum-based PEB chemotherapy, and the contrast between the highly curable germinoma and the more guarded nongerminomatous intracranial tumour.

medium12 referencesUpdated 16 July 202634 min readVerification in progress

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RACP DWERACP DCEMRCPCH TheoryMRCPCH ClinicalABP General Pediatrics

Red flags

A newborn with a large sacrococcygeal teratoma and hydrops or a high-output cardiac state is at risk of cardiovascular collapse and needs stabilisation before any surgeryA markedly raised serum alpha-fetoprotein in a child over one year of age with a solid mass indicates a yolk sac tumour or a malignant germ cell tumour until histology proves otherwiseA child with diabetes insipidus, growth failure or precocious puberty and a suprasellar or pineal mass has an intracranial germ cell tumour until the serum markers and the magnetic resonance imaging settle itA mediastinal germ cell tumour can cause superior vena cava obstruction and a dangerous airway under anaesthesia, so the biopsy is planned with the anaesthetist and the surgeon togetherSacrococcygeal teratoma recurs and may turn malignant if the coccyx is not removed at the primary resection, so the coccygectomy is mandatory and not optional

Life stages

fetalneonateinfanttoddlerpreschoolschool-ageadolescentyoung-adult-transition

Care settings

community-schooloutpatientwarded-acutenicupicuretrieval

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Recognises that germ cell tumours arise from primordial germ cells, follow a midline distribution from the sacrococcygeal region to the intracranial pineal and suprasellar region, and show a bimodal age peak in the infant and the adolescentIdentifies the tumour markers alpha-fetoprotein and beta-human chorionic gonadotropin and the germ cell tumours that secrete them, including the physiological elevation of alpha-fetoprotein in the neonateNames the sacrococcygeal teratoma as the commonest tumour of the newborn and the imperative of the coccygectomy at the primary resection to prevent recurrenceExplains the histological classification into the germinoma or dysgerminoma, which secretes little or no alpha-fetoprotein, and the nongerminomatous tumours such as the yolk sac tumour and the choriocarcinoma that secrete alpha-fetoprotein and beta-human chorionic gonadotropinDistinguishes the highly curable intracranial germinoma, treated with chemotherapy and reduced-dose radiotherapy, from the more guarded nongerminomatous intracranial germ cell tumour that needs craniospinal irradiationCoordinates the risk-adapted pathway from the serum markers and the imaging through the surgery and the platinum-based PEB chemotherapy to the surveillance of the late effectsA markedly raised alpha-fetoprotein in a child over one year with a solid mass is a yolk sac tumour or a malignant germ cell tumour until histology proves otherwiseSacrococcygeal teratoma recurs and may turn malignant if the coccyx is not removed, so the coccygectomy is mandatory at the primary resectionThe physiological alpha-fetoprotein is very high at birth and falls to the adult range by about eight to twelve months, so a raised value in the young infant must be interpreted against the ageCounsels the family of a child with a malignant germ cell tumour on the excellent contemporary survival of over ninety percent for localised disease and the role of the platinum-based chemotherapyBuilds the multidisciplinary plan that runs paediatric oncology, paediatric surgery, urology, gynaecology, radiation oncology and the family togetherSynthesises the long-case child with a sacrococcygeal teratoma into a surgical and surveillance plan that addresses the recurrence risk, the malignant transformation, the bladder and bowel function and the cosmetic outcomeLevel 1: Recognition of the mass lesion and the serum markers of a paediatric germ cell tumour and the urgent referralLevel 2: Application of the diagnostic pathway with the serum markers and the cross-sectional imaging and the risk-adapted chemotherapyLevel 3: Coordination of the definitive therapy and the long-term surveillance of the late effects and the fertilityThe primordial germ cell origin and the midline distribution of the germ cell tumoursThe tumour markers alpha-fetoprotein and beta-human chorionic gonadotropin and the histological subtypes that secrete themThe Altman classification of the sacrococcygeal teratoma and the principle of the coccygectomyExamination of the child with a sacral or gonadal mass and the assessment of the newborn with a sacrococcygeal teratomaCommunication of a new diagnosis of a germ cell tumour and the discussion of the chemotherapy and the fertilityRecognition of the emergencies of the high-output cardiac failure of the large sacrococcygeal teratoma and the superior vena cava obstruction of the mediastinal massGerm cell tumours as a common and highly curable group of paediatric malignancies with a bimodal age distributionThe clinical presentation by location: sacrococcygeal, gonadal, mediastinal and intracranialThe principles of the surgery and the platinum-based chemotherapy and the avoidance of unnecessary treatment in the completely resected early-stage diseaseRecognition of the clinical features of a paediatric germ cell tumour that mandate the serum markers, the imaging and the specialist referralApplication of the initial stabilisation of the newborn with a large sacrococcygeal teratoma and the child with a mediastinal massCoordination of the diagnostic and the multidisciplinary pathway for a child with a germ cell tumourCanadian approach to the urgent evaluation and the referral of a child with a suspected germ cell tumourThe risk-adapted chemotherapy and the role of the surgery and the radiotherapy across the extracranial and the intracranial diseaseThe late effects of the platinum-based chemotherapy and the surveillance of the paediatric germ cell tumour survivor

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Target exams

RACP DWERACP DCEMRCPCH TheoryMRCPCH ClinicalABP General Pediatrics

Red flags

Life stages

fetalneonateinfanttoddlerpreschoolschool-ageadolescentyoung-adult-transition

Care settings

community-schooloutpatientwarded-acutenicupicuretrieval

Clinical exam formats

written-only

Board mappings

Overview & Definition

A newborn is found at the routine examination to have a large firm mass at the base of the spine, and the question at the bedside is whether this is a simple sacral swelling or the commonest solid tumour of the newborn. Germ cell tumours are a group of neoplasms that arise from the primordial germ cells, the embryonic precursors of the sperm and the egg, and they share a common origin that scatters them along the midline of the body from the sacrococcygeal region through the mediastinum and the gonads to the pineal and the suprasellar region of the brain. They make up about three percent of the childhood cancers, they are among the most curable of the paediatric malignancies, and the single thing that separates the child who is cured from the child who is harmed is how fast the clinician reaches the serum markers, the imaging and the specialist centre. [1][12]

A germ cell tumour in a child is a mass of abnormal cells derived from the primordial germ cell, and its behaviour is set by two things: where it sits and what it secretes. The location sorts the tumour into the gonadal, the ovarian and the testicular, and the extragonadal, sacrococcygeal, mediastinal, retroperitoneal and the intracranial, and the secreted tumour markers sort it into the benign and the malignant. The alpha-fetoprotein and the beta-human chorionic gonadotropin are the two markers that carry the diagnosis, because the yolk sac tumour and the immature teratoma secrete the alpha-fetoprotein, the choriocarcinoma secretes the beta-human chorionic gonadotropin, and the germinoma secretes little or none of either. The histology and the markers together build the named diagnosis that drives the treatment. [3][6]

The first task at the bedside is not to name the tumour but to judge whether the child is in danger, from the high-output cardiac failure of the large sacrococcygeal teratoma, from the airway compromise of the mediastinal mass, or from the hydrocephalus of the intracranial lesion. The second task is to send the serum markers and to image the mass, and the third is to build the multidisciplinary plan that runs paediatric oncology, paediatric surgery, urology, gynaecology and radiation oncology together. The bimodal age distribution, the infant teratoma and the adolescent gonadal tumour, is the reason this topic spans the neonatal and the adolescent medicine, and a candidate who can read the location, the markers and the age is demonstrating exactly the reasoning the boards test. [1]

One-sentence answer for the exam

A germ cell tumour in a child is a primordial-germ-cell neoplasm that arises along the midline from the sacrococcygeal region to the pineal and suprasellar brain, it shows a bimodal age peak in the infant teratoma and the adolescent gonadal tumour, the yolk sac tumour and the immature teratoma secrete alpha-fetoprotein while the choriocarcinoma secretes beta-human chorionic gonadotropin and the germinoma secretes little of either, the sacrococcygeal teratoma is the commonest tumour of the newborn and demands the coccygectomy at the primary resection, the diagnosis rests on the serum markers and the cross-sectional imaging, the malignant disease is treated with the surgery and the platinum-based PEB chemotherapy of cisplatin, etoposide and bleomycin, and the contemporary survival exceeds ninety percent for the localised disease.

[2][3][4][7]

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References12Show ledger

[1]Hendricks M, Cois A, Geel J Malignant extracranial germ cell tumours: A first national report by the South African Children's Cancer Study Group Pediatr Blood Cancer, 2022.PMID 34971072
[2]Mann JR, Gray ES, Thornton C Mature and immature extracranial teratomas in children: the UK Children's Cancer Study Group Experience J Clin Oncol, 2008.PMID 18541896
[3]O'Neill AF, Xia C, Krailo MD alpha-Fetoprotein as a predictor of outcome for children with germ cell tumors: A report from the Malignant Germ Cell International Consortium Cancer, 2019.PMID 31355926
[4]Frazier AL, Stoneham S, Rodriguez-Galindo C Comparison of carboplatin versus cisplatin in the treatment of paediatric extracranial malignant germ cell tumours: A report of the Malignant Germ Cell International Consortium Eur J Cancer, 2018.PMID 29859339
[5]Lawrence NJ, Chan H, Toner G Protocol for the P3BEP trial (ANZUP 1302): an international randomised phase 3 trial of accelerated versus standard BEP chemotherapy for adult and paediatric male and female patients with intermediate and poor-risk metastatic germ cell tumours BMC Cancer, 2018.PMID 30157803
[6]Echevarría ME, Fangusaro J, Goldman S Pediatric central nervous system germ cell tumors: a review Oncologist, 2008.PMID 18586924
[7]Liu AP, Takami H, Abdelbaki MS Germinoma: Presentation, Management, and Recent Advances Adv Cancer Res, 2025.PMID 41198339
[8]Fukushima S, Yamashita S, Kobayashi H Genome-wide methylation profiles in primary intracranial germ cell tumors indicate a primordial germ cell origin for germinomas Acta Neuropathol, 2017.PMID 28078450
[9]Göbel U, Calaminus G, Haas R, et al. Testicular germ cell tumors in adolescents - results of the protocol MAHO 98 and the identification of good risk patients Klin Padiatr, 2014.PMID 25431864
[10]Dicken BJ, Billmire DF, Krailo M Gonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children's Oncology Group AGCT 0132 study Pediatr Blood Cancer, 2018.PMID 29286555
[11]Yao W, Li K, Zheng S Analysis of recurrence risks for sacrococcygeal teratoma in children J Pediatr Surg, 2014.PMID 25487496
[12]Williams LA, Frazier AL, Poynter JN Survival differences by race/ethnicity among children and adolescents diagnosed with germ cell tumors Int J Cancer, 2020.PMID 31304572

Germ-cell tumours

medium12 referencesUpdated 16 July 202634 min readVerification in progress

Practise this topic

Overview & Definition

Paediatrics Fellowship Pro

You have read the opening of this topic. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.

References12Show ledger

[1]Hendricks M, Cois A, Geel J Malignant extracranial germ cell tumours: A first national report by the South African Children's Cancer Study Group Pediatr Blood Cancer, 2022.PMID 34971072
[2]Mann JR, Gray ES, Thornton C Mature and immature extracranial teratomas in children: the UK Children's Cancer Study Group Experience J Clin Oncol, 2008.PMID 18541896
[3]O'Neill AF, Xia C, Krailo MD alpha-Fetoprotein as a predictor of outcome for children with germ cell tumors: A report from the Malignant Germ Cell International Consortium Cancer, 2019.PMID 31355926
[4]Frazier AL, Stoneham S, Rodriguez-Galindo C Comparison of carboplatin versus cisplatin in the treatment of paediatric extracranial malignant germ cell tumours: A report of the Malignant Germ Cell International Consortium Eur J Cancer, 2018.PMID 29859339
[5]Lawrence NJ, Chan H, Toner G Protocol for the P3BEP trial (ANZUP 1302): an international randomised phase 3 trial of accelerated versus standard BEP chemotherapy for adult and paediatric male and female patients with intermediate and poor-risk metastatic germ cell tumours BMC Cancer, 2018.PMID 30157803
[6]Echevarría ME, Fangusaro J, Goldman S Pediatric central nervous system germ cell tumors: a review Oncologist, 2008.PMID 18586924
[7]Liu AP, Takami H, Abdelbaki MS Germinoma: Presentation, Management, and Recent Advances Adv Cancer Res, 2025.PMID 41198339
[8]Fukushima S, Yamashita S, Kobayashi H Genome-wide methylation profiles in primary intracranial germ cell tumors indicate a primordial germ cell origin for germinomas Acta Neuropathol, 2017.PMID 28078450
[9]Göbel U, Calaminus G, Haas R, et al. Testicular germ cell tumors in adolescents - results of the protocol MAHO 98 and the identification of good risk patients Klin Padiatr, 2014.PMID 25431864
[10]Dicken BJ, Billmire DF, Krailo M Gonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children's Oncology Group AGCT 0132 study Pediatr Blood Cancer, 2018.PMID 29286555
[11]Yao W, Li K, Zheng S Analysis of recurrence risks for sacrococcygeal teratoma in children J Pediatr Surg, 2014.PMID 25487496
[12]Williams LA, Frazier AL, Poynter JN Survival differences by race/ethnicity among children and adolescents diagnosed with germ cell tumors Int J Cancer, 2020.PMID 31304572