Definition/General
Introduction:
Umbilical cord teratoma is an extremely rare tumor with fewer than 50 cases reported in literature
It represents a germ cell tumor containing tissues from all three embryonic germ layers
The tumor typically presents as a large cord mass and is associated with high perinatal mortality.
Origin:
Originates from pluripotent germ cells that migrate to inappropriate locations during embryogenesis
Contains tissues derived from ectoderm, mesoderm, and endoderm
May arise from aberrant germ cell migration
Represents hamartomatous proliferation of multiple tissue types.
Classification:
Classified as mature teratoma (most common) or immature teratoma
Cystic versus solid components
Benign versus malignant transformation
Grade based on neural tissue immaturity.
Epidemiology:
Incidence: extremely rare (<50 reported cases)
No gender predilection
No specific maternal age association
High mortality rate (>50%)
Associated with significant obstetric complications.
Clinical Features
Presentation:
Large cord mass causing dystocia
Polyhydramnios (most cases)
Preterm delivery
Fetal distress
Non-immune hydrops fetalis
Intrauterine fetal death (40-50%).
Symptoms:
Obstetric emergency during delivery
Cord prolapse risk
Cesarean section often required
Fetal heart rate abnormalities
Shoulder dystocia equivalent
Emergency resuscitation needed.
Risk Factors:
Advanced maternal age
Previous pregnancy losses
Family history of teratomas
Genetic syndromes
Gonadal dysgenesis
Multiple pregnancy.
Screening:
Ultrasound examination detects large masses
MRI for detailed evaluation
Alpha-fetoprotein levels may be elevated
Fetal karyotyping recommended
Multidisciplinary consultation.
Master Cord Teratoma Pathology with RxDx
Access 100+ pathology videos and expert guidance with the RxDx app
Gross Description
Appearance:
Large, lobulated mass within umbilical cord
Size ranges from 5-20 cm
Multilocular cystic and solid areas
Hair, teeth, cartilage may be visible
Cut surface shows diverse tissue types.
Characteristics:
Well-demarcated from surrounding cord
Cystic spaces containing various fluids
Solid nodules of different textures
Calcifications may be present
Surrounding cord compressed.
Size Location:
Size: typically large (>5 cm diameter)
Location: any cord segment
Fetal end more common
May cause massive cord enlargement
Cord length variable.
Multifocality:
Usually solitary lesion
Rarely multiple teratomas
May be associated with fetal teratomas
Sacrococcygeal association possible.
Microscopic Description
Histological Features:
Tissues from all three germ layers
Ectoderm: neural tissue, skin, hair follicles
Mesoderm: muscle, cartilage, bone
Endoderm: respiratory, gastrointestinal epithelium
Mature versus immature elements.
Cellular Characteristics:
Diverse cell types reflecting organ systems
Squamous epithelium
Glandular structures
Neural elements
Muscle fibers
Cartilage and bone
Respiratory epithelium.
Architectural Patterns:
Organoid arrangement common
Cystic structures lined by various epithelia
Solid nodules of different tissues
Primitive neural tissue in immature forms
Well-differentiated organ systems.
Grading Criteria:
Grading based on neural tissue maturity
Grade 0: mature teratoma
Grade 1-3: increasing immaturity
Mitotic activity assessment
Necrosis evaluation.
Immunohistochemistry
Positive Markers:
Cytokeratin in epithelial components
Vimentin in mesenchymal tissues
GFAP in neural elements
Smooth muscle actin in muscle
S-100 in neural tissue.
Negative Markers:
AFP typically negative (unless yolk sac elements)
hCG negative
PLAP may be focal positive
OCT4 negative in mature forms.
Diagnostic Utility:
Confirms multi-lineage differentiation
Identifies tissue types
Excludes other tumors
Assesses maturity level
Prognostic assessment.
Molecular Subtypes:
No specific molecular classification
Germ cell markers variable
Developmental markers present
Tissue-specific markers positive.
Molecular/Genetic
Genetic Mutations:
Chromosomal abnormalities possible
Isochromosome 12p rare in mature forms
Developmental gene alterations
Germ cell pathway abnormalities
Parthenogenetic origin possible.
Molecular Markers:
Pluripotency markers in primitive areas
Differentiation markers in mature regions
Normal tissue-specific expression
Developmental pathways active.
Prognostic Significance:
Mature forms better prognosis
Size correlates with complications
Immature elements increase risk
Associated with high fetal mortality
Obstetric complications significant.
Therapeutic Targets:
No specific therapeutic targets
Surgical delivery required
Neonatal surgery may be needed
Chemotherapy if malignant transformation
Supportive care important.
Differential Diagnosis
Similar Entities:
Hemangioma
Cord cyst
Hematoma
Other cord tumors
Fetal tumors compressing cord.
Distinguishing Features:
Teratoma: multiple tissue types
Teratoma: all germ layers
Hemangioma: vascular proliferation only
Cyst: single tissue type
Hematoma: blood products only.
Diagnostic Challenges:
Tissue sampling adequacy
Mixed tissue recognition
Maturity assessment
Size-related sampling issues
Clinical correlation importance.
Rare Variants:
Immature teratoma
Malignant transformation
Teratoma with yolk sac elements
Monodermal teratoma
Struma cordis.
Sample Pathology Report
Template Format
Sample Pathology Report
Complete Report: This is an example of how the final pathology report should be structured for this condition.
Specimen Information
Umbilical cord with large mass measuring [X] cm
Tumor Description
Mass: [size] cm, [cystic/solid/mixed], [location], [appearance]
Germ Layer Representation
Contains tissues from [ectoderm/mesoderm/endoderm]: [specific tissue types]
Maturity Assessment
Maturity: [mature/immature], Grade [0-3] based on neural tissue differentiation
Tissue Components
Components identified: [list major tissue types]
Immunohistochemistry
IHC confirms multi-lineage differentiation: [marker results]
Clinical Significance
Clinical significance: [risk assessment] based on size and maturity
Final Diagnosis
Umbilical cord [mature/immature] teratoma, [size] cm