Malignant rhabdoid tumor of the heart in an infant

Abstract

A 6‐month‐old infant presenting with pericardial effusion was found to have a malignant rhabdoid tumor of the heart. As visualized by two‐dimensional echocardiography and subsequently by contrast‐enhanced computerized axial tomographic scanning, the tumor arose from the left ventricular free wall and grew into the pericardial space. Despite two courses of single‐agent chemotherapy with doxorubicin, the child died 3 months later. This is the first reported case of malignant rhabdoid tumor of the heart, and the fifth case of a primary cardiac malignancy in an infant.

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.…”

Carcinoma of lung with rhabdoid features

“…28 Since then, extrarenal tumors with rhabdoid morphology have generated much interest and have been described in various other locations such as soft tissue, liver, uterus, skin, brain, prostate, vulva, urinary bladder, orbit, intestine and stomach, tongue, and recently, the lungs. [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][19][20][21][22][23][24][25] Although renal rhabdoid tumors are tumors of childhood, extrarenal rhabdoid tumors are observed in a broad range of age groups. 4 Even though rhabdoid tumors of the kidney and extrarenal rhabdoid tumors are considered to be separate entities, the rhabdoid cells have similar morphological features and have been shown to have many similarities on immunohistochemical staining.…”

“…Subsequently, tumors with similar morphological characteristics were reported in various extrarenal sites. [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] Many of these lesions, unlike the renal tumors, were generally mixed with a carcinoma or a mesenchymal neoplasm. These neoplasms are characterized by an aggressive course and poor prognosis.…”

Mutations of the p53 gene in malignant rhabdoid tumors of soft tissue and the kidney: immunohistochemical and DNA direct sequencing analysis

“…However, the occurrence of this histologically speci®c tumor in various extra-renal sites has been reported by some authors and the tumor has been described as an entity of extra-renal rhabdoid tumor. The locations where it occurs include the kidney, central and peripheral nervous system (Booz et al 1996;Cohn et al 1995;Gansler et al 1991), liver (Gururangan et al 1993), heart (Small et al 1985), mediastinum (Gururangan et al 1993), uterus (Cho et al 1989), adnexa (Tsokos et al 1989), urinary bladder (Egawa et al 1994), and soft tissue (Kodet et al 1991;Schmidt et al 1989;Tsujimura et al 1989). Tsuneyoshi et al described the presence of rhabdoid cells in soft tissue sarcomas such as epithelioid sarcoma, synovial sarcoma, extraskeletal myxoid chondrosarcoma, and malignant mesothelioma (Tsuneyoshi et al 1987).…”