Table 1: Tumors in Neonates and Associated Genetic Abnormalities and Syndromes.
Tumor Incidence in Neonates Clinical Findings Genetic Alterations and Associated
Syndromes and Conditions
Sacrococcygeal
Teratomas
35 – 60% of all teratomas Hydrops fetalis
Large sacral mass
Anorectal malformation
Currarino Triad
Klinefelter Syndrome
Neuroblastoma 20% of all NBL Hepatomegaly
Skin nodules
Heterochromia iridis
Horner Syndrome
ALK gene mutations
PHOX2B gene mutations
Hypoventilation syndrome
Hirschsprung’s disease
Soft Tissue Tumors, Sarcomas 10-15 % of all STT Abdominal mass
Hematuria
Soft Tissue mass
Li-Fraumeni
Disseminated Fibromatosis ? Visceral Tumors PDGFRB gene mutations
Infantile Fibrosarcoma ? Soft tissue tumors in the extremities ETV6 and NTRK3 gene mutations
ATRT of the Brain Very Rare? Brain mass
Hydrocephalus
INI1 mutation
Subependymal Giant Cell Astrocytoma (SEGA) 2.2% are congenital Brain mass
Hydrocephalus
Tuberous Sclerosis
Hepatoblastoma 10% of all HBL Abdominal Mass Beckwith-Wiedemann
Li-Fraumeni
FAP
Trisomy 18
Wilms Tumor 0.2% of all WT Abdominal mass
Hypertension
Hematuria
Beckwith-Wiedemann
WAGR
Denys-Drash
Simpson-Golabi-Behmel
Hemihypertrophy
Soto’s Syndrome
Malignant Rhabdoid Tumor of the Kidney (MRTK) Abdominal mass
Hypertension
Hematuria
INI1 mutation