Atypical teratoid rhabdoid tumor risk factors
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Risk Factors
Atypical teratoid/rhabdoid tumors are very rare tumors and absolute risk to siblings is not reported in the literature. However, there have been some reports of AT/RTs presenting in two members of the same family, or one family member with a AT/RT and another with a renal rhabdoid tumor or other CNS tumor. These are suspected to arise from germ-line genetic mutations in a parent shared by affected siblings.
- A three-generation family is known in which two half-brothers were diagnosed with central nervous system atypical teratoid/rhabdoid tumors (AT/RT). The two boys, diagnosed at 2 months and 17 months of age, had a germline insertion mutation in exon 4 of the INI1 gene that was inherited from their healthy mother. A maternal uncle died in childhood from a brain tumor and a malignant rhabdoid tumor of the kidney. The identification of two unaffected carriers in a family segregating a germline mutation and rhabdoid tumor supports the hypothesis that there may be variable risks of development of rhabdoid tumor in the context of a germline mutation. There may be a developmental window in which most rhabdoid tumors occur. This family highlights the importance of mutation analysis in all patients with a suspected rhabdoid tumor.[1]
- In the first case report of monozygotic twins, both with brain tumors having similar genetic alterations, authors suggest a common genetic pathway.[2]
- A case reported on an infant that developed both AT/RT and renal rhabdoid tumors that were identical in gross and immunologic histology.[3]
- A family has had multiple generations of posterior fossa tumors including rhabdoid tumors and choroid plexus carcinoma. A germ-line mutation (SMARCB1) was found in both affected and some unaffected family members.[4]
- Two sisters were diagnosed with AT/RTs fifteen days apart. A case report stated there were no karyotypic anomalies noted.[5]
- Three siblings had a mutation of the SMARCB1 gene and one had a choroid plexus carcinoma and two had an AT/RT. Although the mother had a normal somatic DNA it appears that the mutation was inherited from the mother's germline due to a mutation during oogenesis.[6]
- Izycka-Swieszewska et al. describe a five month-old child with an AT/RT, whose father was diagnosed with a primitive neuroectodermal tumor (PNET) of the spinal canal. FISH analysis showed significant genetic differences in the specimens which suggest that the occurrence of these virulent CNS malignancies within a single family was coincidental.[7]
References
- ↑ Janson K, Nedzi LA, David O; et al. (2006). "Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation". Pediatr Blood Cancer. 47 (3): 279–84. doi:10.1002/pbc.20622. PMID 16261613.
- ↑ Fernandez C, Bouvier C, Sevent N. (2002). "Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis". Am J Surg Pathol (26:): 266–70. PMID 11812951.
- ↑ Beigel, JA, Fogelgren B, Wainwright LM; et al. (2000). "Germ-line INI1 mutations in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor". Genes Chromosomes Cancer (1): 31–7.
- ↑ Taylor MD, Gokgoz N, Andrulis IL, Mainprize TG, Drake JM, Rutka JT (2000). "Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene". Am. J. Hum. Genet. 66 (4): 1403–6. doi:10.1086/302833. PMID 10739763.
- ↑ Proust F, Laquerriere A, Constantin B, Ruchoux MM, Vannier JP, Fréger P (1999). "Simultaneous presentation of atypical teratoid/rhabdoid tumor in siblings" (PDF). J. Neurooncol. 43 (1): 63–70. PMID 10448873.
- ↑ Sevent N, Sheridan E, Amran D; et al. (1999). "Constitutional mutations of the hSNF/INI1 gene predispose to a variety of cancers". Am J Hum Genet (65): 1343–48.
- ↑ Template:Cite