Cervical neuroblastoma and multiple endocrine neoplasia type 2a

The authors report the case of a female infant who was referred at the age of 18 months for a left latero-cervical mass. This child belongs to a family with a history of multiple endocrine neoplasia (MEN) type 2a (10 persons in 4 generations had medullary thyroid carcinoma and/or pheochromocytoma). Surgery was performed with complete excision of an encapsulated tumor and pathological examination reported a typical ganglioneuroblastoma. No amplification of N-myc oncogene was observed. The probability of the child carrying a MEN-2a gene is estimated 2 to 4%, by DNA analysis. The patient has received no further treatment and is still free of disease 4 years later. The diagnostic problems of this tumor after basic tests were between neuroblastoma and medullary thyroid carcinoma. The link between neuroblastoma and MEN-2a syndrome is discussed because both diseases belong to the group of neural crest tumors.