Article

Rhabdoid tumour: a malignancy of early childhood with variable primary site, histology and clinical behaviour.

Department of Anatomical Pathology, Royal Children's Hospital, Flemington Road, Parkville, Vic 3052, Australia.
Pathology (Impact Factor: 2.62). 01/2009; 40(7):664-70. DOI: 10.1080/00313020802436451
Source: PubMed

ABSTRACT To correlate the immunostaining for INI1 protein and mutations in INI1 gene in possible rhabdoid tumours (RT) and atypical teratoid/rhabdoid tumours (AT/RT) seen at the Royal Children's Hospital in the last 10 years, and to study the clinicopathological features of those patients with negative nuclear staining.
Twenty tumours showing suggestive histological and/or immunohistochemical features of RT and AT/RT were selected. Immunohistochemistry for INI1 and molecular investigations for INI1 mutations were performed. The clinical features, histology and immunohistochemistry in those patients with negative nuclear staining were studied.
In seven tumours the nuclei stained uniformly for INI1. In none of these was an INI1 mutation detected. In 13 tumours nuclei showed no staining. In only ten of these was material available for molecular studies. Mutations were detected in nine. In these 13 patients, the primary tumour was in the central nervous system (CNS) in seven, in the soft tissue in three, in the liver in two and in the kidney in one. The age of presentation varied from 19 days to 7 years. Only five tumours showed large areas of rhabdoid cells. Most showed extensive non-diagnostic areas. In two an alternative diagnosis, ependymoma or myoepithelial carcinoma of soft tissue, was initially suggested. All the CNS tumours were positive for EMA, GFAP, and SMA. There were no long term survivors, but an occasional patient showed excellent response to intensive chemotherapy.
In this small series, there is a strong correlation between the loss of INI1 immunostaining and the presence of an INI1 mutation suggesting that the former is a reliable marker for RT and AT/RT in children. As relatively few tumours showed uniform populations of rhabdoid cells, and some showed features suggesting another diagnosis, INI1 staining should be checked in all high grade CNS tumours and malignant extraCNS tumours where the diagnosis is unclear. The prognosis of RT is poor but medium term remission can be achieved in some patients with aggressive treatment.

0 Bookmarks
 · 
85 Views
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Tumors of the central nervous system (CNS) are the most common solid malignancies in childhood and are the leading cause of cancer-related death in this age group. While an ongoing improvement in overall prognosis has been achieved in the last few decades, current therapeutic approaches still confer significant morbidities, especially for the very young. The traditional strategies of surgery, radiotherapy and conventional cytotoxic chemotherapy need to be further refined while newer approaches, including molecularly targeted agents, hold the promise of better responses, improved outcomes and reduced toxicities. This article discusses treatment standards, the focus of current clinical investigations and the future promise of novel, biologically based approaches for the most common pediatric CNS tumors: primitive neuroectodermal tumors including medulloblastomas, ependymomas and astrocytomas (both low-grade and high-grade glioma).
    Asia-Pacific Journal of Clinical Oncology 06/2012; 8(3):223-31. · 0.91 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Malignant rhabdoid tumors (MRT) of soft tissues are aggressive tumors, which can be detected in almost any part of the body. MRT are rare, and very few cases have been reported in the literature. Prognosis of these tumors is extremely poor despite intensive therapy. Some risk factors such as young age or disseminated disease are associated with an aggressive and almost always lethal clinical course. Some clinicians even recommend initial palliative care due to this outcome. We report a case of metastatic MRT in a 6-month-old child with excellent initial response to chemotherapy.
    Pediatric Hematology and Oncology 05/2014; · 0.96 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: In the CNS, primary tumors with rhabdoid components are classified as atypical teratoid/rhabdoid tumor, rhabdoid meningioma or rhabdoid glioblastoma. The authors present a young adult patient with supratentorial rhabdoid tumor incidentally found after head trauma as a small pre-existing lesion in the parahippocampal gyrus. MRI demonstrated an area of hypointensity on T1-weighted images and hyperintensity on T2-weighted and fluid attenuated inversion recovery images. A serial MR scan revealed no change 3 months after the initial examination but drastic changes at 6 months. As the tumor and accompanying intratumoral hemorrhage enlarged rapidly, resection of the tumor was performed. Histopathology revealed that the main component of the tumor was typical rhabdoid cells with some necrotic areas. There were also pathological features consistent with oligoastrocytoma. The specimen had neither vascular proliferation usually seen in high-grade glioma nor the meningothelial pattern that suggests meningioma. Immunohistochemical findings revealed that cells were strongly positive for vimentin, epithelial membrane antigen and INI-1 antibody throughout the specimen. Further, monosomy 22 was detected by fluorescence in situ hybridization. The tumor was finally thought to be an unclassifiable primitive rhabdoid tumor with oligoastrocytoma that arose in the CNS. The patient died within 5 months of detection of the tumor, regardless of surgical resection, radiotherapy and chemotherapy.
    Neuropathology 07/2012; · 1.80 Impact Factor