Abstract
We present a case of a 23-year-old man with a tumor containing glial and rhabdoid elements where the former had features of a pleomorphic xanthoastrocytoma (PXA) and the latter had the immunophenotype and genetic profile of an atypical rhabdoid/teratoid tumor. The patient presented with a short history of raised intracranial pressure with rapid deterioration in sensorium. He had a poor outcome despite surgery and radiotherapy. We report this case because of its unusual presentation in adulthood and its occurrence in association with a PXA. We speculate that the PXA was a quiescent tumor and that the secondary genetic alterations, including inactivation of the INI1 gene led to clinical progression.
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Weeks DA, Beckwith JB, Mierau GW et al (1989) Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms’ Tumor Study Pathology Center. Am J Surg Pathol 13:439–458
Beckwith JB (1983) Wilms’ tumor and other renal tumors of childhood: a selective review from the National Wilms’ Tumor Study Pathology Center. Hum Pathol 14:481–492
Rorke LB, Packer RJ, Biegel JA (1996) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 85:56–65
Rorke LB, Packer R, Biegel J (1995) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neurooncol 24:21–28
White FV, Dehner LP, Belchis DA et al (1999) Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11. Am J Surg Pathol 23:249–256
Versteege I, Sevenet N, Lange J et al (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394:203–206
Rousseau-Merck MF, Versteege I, Legrand I et al (1999) hSNF5/INI1 inactivation is mainly associated with homozygous deletions and mitotic recombinations in rhabdoid tumors. Cancer Res 59:3152–3156
Sevenet N, Sheridan E, Amram D et al (1999) Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 65:1342–1348
Judkins AR, Mauger J, Ht A et al (2004) Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol 28:644–650
Hoot AC, Russo P, Judkins AR et al (2004) Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol 28:1485–1491
Biegel JA, Fogelgren B, Wainwright LM et al (2000) Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor. Genes Chromosomes Cancer 28:31–37
Biegel JA, Kalpana G, Knudsen ES et al (2002) The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. Cancer Res 62:323–328
Biegel JA, Tan L, Zhang F et al (2002) Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clin Cancer Res 8:3461–3467
Biegel JA, Zhou JY, Rorke LB et al (1999) Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59:74–79
Perry A, Fuller CE, Judkins AR et al (2005) INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. Mod Pathol 18:951–958
Beckwith JB, Palmer NF (1978) Histopathology and prognosis of Wilms tumors: results from the First National Wilms’ Tumor Study. Cancer 41:1937–1948
Shimazaki H, Aida S, Sato M et al (2001) Lung carcinoma with rhabdoid cells: a clinicopathological study and survival analysis of 14 cases. Histopathology 38:425–434
Perry A, Scheithauer BW, Stafford SL et al (1998) “Rhabdoid” meningioma: an aggressive variant. Am J Surg Pathol 22:1482–1490
Oshiro Y, Shiratsuchi H, Oda Y et al (2000) Rhabdoid features in leiomyosarcoma of soft tissue: with special reference to aggressive behavior. Mod Pathol 13:1211–1218
Levine PH, Mittal K (2002) Rhabdoid epithelioid leiomyosarcoma of the uterine corpus: a case report and literature review. Int J Surg Pathol 10:231–236
Knapik J, Yachnis AT, Ripley D et al (2001) Aggressive uterine sarcoma with rhabdoid features: diagnosis by peritoneal fluid cytology and absence of INI1 gene mutation. Hum Pathol 32:884–886
Kepes JJ, Moral LA, Wilkinson SB et al (1998) Rhabdoid transformation of tumor cells in meningiomas: a histologic indication of increased proliferative activity: report of four cases. Am J Surg Pathol 22:231–238
Gokden N, Nappi O, Swanson PE et al (2000) Renal cell carcinoma with rhabdoid features. Am J Surg Pathol 24:1329–1338
Allen JC, Judkins AR, Rosenblum MK et al (2006) Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. Neuro–oncol 8:79–82
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Chacko, G., Chacko, A.G., Dunham, C.P. et al. Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma. J Neurooncol 84, 217–222 (2007). https://doi.org/10.1007/s11060-007-9361-z
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DOI: https://doi.org/10.1007/s11060-007-9361-z