Intratubular Germ Cell Neoplasia in the Pediatric Population: A Case Report

Kristin M. DeGirolamo, David Dix, Monica Langer,  John Masterson


Testicular cancer, specifically germ cell tumors, are the most common malignancy in young men and are curable in up to 95 % of cases, but the incidence is on the rise. The key event in the transformation to malignancy is hypothesized to occur in early adulthood, and the carcinogenic pathway for germ cell tumors is thought to begin in fetal life due to maternal or environmental estrogen exposure. Intratubular Germ Cell Neoplasia (ITGCN), previously known as Carcinoma in Situ (CIS) of the testis, is a premalignant condition that can progress to testicular cancer and is associated with testicular germ cell tumors. ITGCN is rarely reported in prepubertal children, and it would be helpful to know the prognostic implications of this finding. We present a case report of a 4-month-old male with undifferentiated ITGCN, and a co-morbid mature teratoma, one of only a few cases currently published. This patient had a normal 46, XY karyotype and all normal laboratory result except for a slightly elevated AFP, which is considered a normal finding for his age. Our report contributes to the growing body of evidence of ITGCN in the pediatric population and how little is known about this diagnosis. We will also briefly review management options for these patients and how we will be following this patient.

KEYWORDS: intratubular germ cell neoplasia; testicular carcinoma in situ; pediatric testicular tumors; germ cell tumor; prepubertal testis

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DeGirolamo KM, Dix D, Langer M,  Masterson J. Intratubular Germ Cell Neoplasia in the Pediatric Population: A Case Report. UBCMJ. 2012 3(2):27-32.