Neonatal neuroblastoma with liver metastases

Case contributed by Yaïr Glick
Diagnosis certain

Presentation

Enlarged abdominal girth. Hepatomegaly on palpation.

Patient Data

Age: 2 months
Gender: Female

Markedly enlarged liver with innumerable mildly hyperechoic nodules scattered throughout.
Right adrenal mass, hypoechoic compared to the liver and kidney.

Right adrenal mass.
Massively enlarged liver with innumerable, slightly hypodense, hypoenhancing metastases.

Case Discussion

Adrenal mass with liver metastases at the age of 2 months - compatible with neonatal neuroblastoma, stage 4S.

Liver, core biopsy:

Cores of liver tissue massively infiltrated by a small blue cell tumor, showing morphological and immunophenotypical features consistent with a poorly differentiated neuroblastoma, Schwannian stroma poor.

The MKI (mitotic karyorrhexis index) is low (<2% or <100/5000 cells). On immunostains, the tumor cells are positive for CD56, synaptophysin and focally/weakly positive for chromogranin and they are negative for myogenin, CD99, and MNF116 cytokeratin. The betacatenin and FLI1 are also positive in the tumor cells.

FISH study unavailable.

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