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Erschienen in: Journal of Neuro-Oncology 2/2007

01.09.2007 | Clinical Study - Patient Studies

Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma

verfasst von: Geeta Chacko, Ari G. Chacko, Christopher P. Dunham, Alexander R. Judkins, Jaclyn A. Biegel, Arie Perry

Erschienen in: Journal of Neuro-Oncology | Ausgabe 2/2007

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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.
Literatur
1.
Zurück zum Zitat 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 13:439–458PubMedCrossRef 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 13:439–458PubMedCrossRef
2.
Zurück zum Zitat Beckwith JB (1983) Wilms’ tumor and other renal tumors of childhood: a selective review from the National Wilms’ Tumor Study Pathology Center. Hum Pathol 14:481–492PubMedCrossRef Beckwith JB (1983) Wilms’ tumor and other renal tumors of childhood: a selective review from the National Wilms’ Tumor Study Pathology Center. Hum Pathol 14:481–492PubMedCrossRef
3.
Zurück zum Zitat Rorke LB, Packer RJ, Biegel JA (1996) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 85:56–65PubMedCrossRef Rorke LB, Packer RJ, Biegel JA (1996) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 85:56–65PubMedCrossRef
4.
Zurück zum Zitat Rorke LB, Packer R, Biegel J (1995) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neurooncol 24:21–28PubMedCrossRef Rorke LB, Packer R, Biegel J (1995) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neurooncol 24:21–28PubMedCrossRef
5.
Zurück zum Zitat 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 23:249–256PubMedCrossRef 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 23:249–256PubMedCrossRef
6.
Zurück zum Zitat Versteege I, Sevenet N, Lange J et al (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394:203–206PubMedCrossRef Versteege I, Sevenet N, Lange J et al (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394:203–206PubMedCrossRef
7.
Zurück zum Zitat 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 59:3152–3156PubMed 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 59:3152–3156PubMed
8.
Zurück zum Zitat 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 65:1342–1348PubMedCrossRef 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 65:1342–1348PubMedCrossRef
9.
Zurück zum Zitat Judkins AR, Mauger J, Ht A et al (2004) Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol 28:644–650PubMed Judkins AR, Mauger J, Ht A et al (2004) Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol 28:644–650PubMed
10.
Zurück zum Zitat 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 28:1485–1491PubMedCrossRef 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 28:1485–1491PubMedCrossRef
11.
Zurück zum Zitat 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 28:31–37PubMedCrossRef 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 28:31–37PubMedCrossRef
12.
Zurück zum Zitat 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 62:323–328PubMed 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 62:323–328PubMed
13.
Zurück zum Zitat 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 8:3461–3467PubMed 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 8:3461–3467PubMed
14.
Zurück zum Zitat Biegel JA, Zhou JY, Rorke LB et al (1999) Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59:74–79PubMed Biegel JA, Zhou JY, Rorke LB et al (1999) Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59:74–79PubMed
15.
Zurück zum Zitat Perry A, Fuller CE, Judkins AR et al (2005) INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. Mod Pathol 18:951–958PubMedCrossRef Perry A, Fuller CE, Judkins AR et al (2005) INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. Mod Pathol 18:951–958PubMedCrossRef
16.
Zurück zum Zitat Beckwith JB, Palmer NF (1978) Histopathology and prognosis of Wilms tumors: results from the First National Wilms’ Tumor Study. Cancer 41:1937–1948PubMedCrossRef Beckwith JB, Palmer NF (1978) Histopathology and prognosis of Wilms tumors: results from the First National Wilms’ Tumor Study. Cancer 41:1937–1948PubMedCrossRef
17.
Zurück zum Zitat Shimazaki H, Aida S, Sato M et al (2001) Lung carcinoma with rhabdoid cells: a clinicopathological study and survival analysis of 14 cases. Histopathology 38:425–434PubMedCrossRef Shimazaki H, Aida S, Sato M et al (2001) Lung carcinoma with rhabdoid cells: a clinicopathological study and survival analysis of 14 cases. Histopathology 38:425–434PubMedCrossRef
18.
Zurück zum Zitat Perry A, Scheithauer BW, Stafford SL et al (1998) “Rhabdoid” meningioma: an aggressive variant. Am J Surg Pathol 22:1482–1490PubMedCrossRef Perry A, Scheithauer BW, Stafford SL et al (1998) “Rhabdoid” meningioma: an aggressive variant. Am J Surg Pathol 22:1482–1490PubMedCrossRef
19.
Zurück zum Zitat Oshiro Y, Shiratsuchi H, Oda Y et al (2000) Rhabdoid features in leiomyosarcoma of soft tissue: with special reference to aggressive behavior. Mod Pathol 13:1211–1218PubMedCrossRef Oshiro Y, Shiratsuchi H, Oda Y et al (2000) Rhabdoid features in leiomyosarcoma of soft tissue: with special reference to aggressive behavior. Mod Pathol 13:1211–1218PubMedCrossRef
20.
Zurück zum Zitat Levine PH, Mittal K (2002) Rhabdoid epithelioid leiomyosarcoma of the uterine corpus: a case report and literature review. Int J Surg Pathol 10:231–236PubMedCrossRef Levine PH, Mittal K (2002) Rhabdoid epithelioid leiomyosarcoma of the uterine corpus: a case report and literature review. Int J Surg Pathol 10:231–236PubMedCrossRef
21.
Zurück zum Zitat 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 32:884–886PubMedCrossRef 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 32:884–886PubMedCrossRef
22.
Zurück zum Zitat 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 22:231–238PubMedCrossRef 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 22:231–238PubMedCrossRef
23.
Zurück zum Zitat Gokden N, Nappi O, Swanson PE et al (2000) Renal cell carcinoma with rhabdoid features. Am J Surg Pathol 24:1329–1338PubMedCrossRef Gokden N, Nappi O, Swanson PE et al (2000) Renal cell carcinoma with rhabdoid features. Am J Surg Pathol 24:1329–1338PubMedCrossRef
24.
Zurück zum Zitat Allen JC, Judkins AR, Rosenblum MK et al (2006) Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. Neuro–oncol 8:79–82PubMed Allen JC, Judkins AR, Rosenblum MK et al (2006) Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. Neuro–oncol 8:79–82PubMed
Metadaten
Titel
Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma
verfasst von
Geeta Chacko
Ari G. Chacko
Christopher P. Dunham
Alexander R. Judkins
Jaclyn A. Biegel
Arie Perry
Publikationsdatum
01.09.2007
Erschienen in
Journal of Neuro-Oncology / Ausgabe 2/2007
Print ISSN: 0167-594X
Elektronische ISSN: 1573-7373
DOI
https://doi.org/10.1007/s11060-007-9361-z

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