Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.

BACKGROUND

Patients with nevoid basal cell carcinoma syndrome (NBCCS) are believed to be predisposed to develop early-onset neoplasms including medulloblastomas (MB). The desmoplastic subtype of MB is associated most commonly with NBCCS. The goals of this study were to demonstrate the relation between desmoplastic MB and NBCCS and to evaluate the concomitant diagnosis of NBCCS and MB.

METHODS

The medical records of 76 consecutive children who received surgical treatment for MB between 1970 and 2000 were studied. A review of the literature was performed based on the National Library of Medicine database and bibliographies of selected articles were scanned.

RESULTS

The authors reported three patients with NBCCS who received surgical treatment for an MB during infancy. The literature review identified 33 patients with NBCCS who were treated for MB at a mean age of 28 months. The desmoplastic subtype was the only histopathologic subtype of MB reported in the NBCCS population. Although patients with NBCCS are predisposed to develop multiple basal cell carcinomas and intracranial tumors in the field of irradiation, the prognosis for syndromic MBs was much better compared with the prognosis for sporadic MBs.

CONCLUSIONS

Patients with NBCCS have an increased risk for other malignancies, especially radiation-induced neoplasms. Early diagnosis of this syndrome is important for the selection of appropriate adjuvant treatment and family genetic counseling. The authors did not advocate the use of radiotherapy as an adjuvant treatment in desmoplastic MB diagnosed in children younger than 5 years of age. They suggested that the desmoplastic subtype of MB in children younger than 2 years of age is a major diagnostic criterion for the diagnosis of NBCCS.