Congenital Orbital and Disseminated Extrarenal Malignant Rhabdoid Tumor

Abstract

A 5-week premature infant boy with tumorous malformations underwent biopsy of two truncal masses and exenteration of the left orbit. Specimens were examined histologically. Histologic reports, slides, and clinical photographs were reviewed. A diagnosis of malignant rhabdoid tumor was made. Malignant rhabdoid tumors can present as local or disseminated neoplastic disease involving the orbit and should be considered in the differential diagnosis of rapidly progressing orbital lesions presenting in early infancy. We review the current classification of rhabdoid tumors and the previous literature on orbital rhabdoid tumors.

Fetal and neonatal rhabdoid tumor

“…Molecular genetic analyses of kidney, brain, and soft tissue RTs show deletions in chromosome 22q11 and mutations of the hSNF5/INI1 gene [25,26]. In older infants and children, RTs occur more often within the kidney or CNS than in the soft tissues as compared with the fetus and neonate where the extrarenal non-CNS (soft tissue) sites predominate [2,4,5,8,18,[27][28][29] (Tables 1-3). The histologic diagnosis of RT is based on identifying the characteristic RT cell, which consists of a round vesicular nucleus, a prominent nucleolus, and a round to oval eosinophilic inclusion containing intermediate filaments as seen by electron microscopy [1,2] (Fig.…”

Malignant rhabdoid transformation of a longstanding, aggressive, and recurrent orbital angiomyxoma

“…Since their initial description in the kidney, MRT occurring in extrarenal locations have been reported in the heart, 63 liver, 52 thymus, 42 brain, 7,61 prostate, 13 soft tissues, 51,66 pelvis, 18 vulva, 54 bladder, 25 skin 11 and orbit. 21,23,39,46,48,57,61,65,68 Composite tumors may be encountered in many mesenchymal soft tissue (Table 2). The vast majority of noncomposite orbital examples of MRT have been reported in children.…”

Malignant Rhabdoid Tumor of the Floor of Mouth: First Reported Case in the Oral Cavity of an Adult

“…[5,6,[10][11][12][13][14][15][16][17][18][19][20][21]. In a review of the English literature, 14 cases of primary MRT involving the soft tissues of the head and neck were identified [11][12][13][14][15][16][17][18][19][20][21] (Table 1). Of the 14 reported cases, 12 occurred in infants under 1 year of age and 2 occurred in children under 12 years of age (cases 10 and 11) [11,18].…”