Malignant rhabdoid tumor
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Synonyms and keywords: Malignant rhabdoid tumour; Malignant rhabdoid neoplasm; Atypical teratoid rhabdoid tumor
Overview
- Malignant rhabdoid tumor is one of the aggressive tumors in the pediatric population. It was originally described as a rhabdomyosarcomatoid variant of Wilms' tumor, which is primarily a renal tumor.[1]
- Malignant rhabdoid tumor was first described as a variant of Wilms' tumor of the kidney, in 1978.
- Malignant rhabdoid tumor is comprised of rhabdoid tumor cells and varying amounts of small undifferentiated primitive neuroectodermal tumor (PNET)-like, mesenchymally, and/or epithelially differentiated tumor cells.
- Gene involved in the pathogenesis of malignant rhabdoid tumor include SMARCB1 (hSNF5/INI-1), a tumor suppressor gene.
- Malignant rhabdoid tumor is characterized by loss of the long arm of chromosome 22, which results in loss of the hSNF5/INI-1 gene.
- INI1, a member of the SWI/SNF chromatin remodeling complex, is important in maintenance of the mitotic spindle and cell cycle control.
- Malignant rhabdoid tumor may be associated with rhabdoid predisposition syndrome.[2]
- Common locations associated with malignant rhabdoid tumor include:[3]
- Kidney: malignant rhabdoid tumor of the kidney (most common)
- Intracranial: atypical teratoid rhabdoid tumor
- Soft tissues: breast, skin, orbit, liver, etc
- On gross pathology, malignant rhabdoid tumor of the kidney is characterized by large, centrally located, heterogeneous soft-tissue masses involving the renal hilum with indistinct margins.[4]
- On microscopic histopathological analysis, malignant rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of eosinophilic cytoplasm with frequent mitotic figures.
- Almost all reported cases of malignant rhabdoid tumor, regardless of site of origin, occur in young children between birth and 2 years of age.[5]
- In approximately 10% of cases of renal malignant rhabdoid tumor, the patients subsequently develop intracranial atypical teratoid rhabdoid tumor.
- Common complication of malignant rhabdoid tumor include hypercalcemia, secondary to elevated parathyroid hormone levels.[6]
- Symptoms of malignant rhabdoid tumor of kidney include:[6]
- Blood in urine
- Flank mass
References
- ↑ Malignant rhabdoid tumour. Wikipedia 2015. https://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour. Accessed on December 22, 2015
- ↑ Genetics of malignant rhabdoid tumour. Wikipedia 2015. https://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour. Accessed on December 22, 2015
- ↑ Rhabdoid tumours. Dr Ayush Goel and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/rhabdoid-tumours. Accessed on December 22, 2015
- ↑ Radiographic features of malignant rhabdoid tumor of the kidney. Dr Ayush Goel and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/rhabdoid-tumours. Accessed on December 23, 2015
- ↑ Epidemiology of rhabdoid tumours. Dr Ayush Goel and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/rhabdoid-tumours. Accessed on December 22, 2015
- ↑ 6.0 6.1 Clinical presentation of malignant rhabdoid tumour of the kidney. Dr Matt A. Morgan and Radswiki et al. Radiopaedia 2015. http://radiopaedia.org/articles/malignant-rhabdoid-tumour-of-the-kidney. Accessed on December 23, 2015