Summary
Clinical and morphological features of an apparently unique, biologically aggressive central nervous system tumor in 32 infants and children are presented. This neoplasm is formed wholly or partly by rhabdoid cells, areas resembling typical primitive neuroectodermal tumor, and, less frequently, malignant mesenchymal and/ or epithelial tissue. The tumor has been named atypical teratoid/rhabdoid tumor (ATT/RhT) and is regarded as a unique class of primary central nervous system (CNS) tumors. It occurs most commonly in infants less than two years of age, has often metastasized throughout the CNS at presentation, does not respond to therapy and causes death less than a year after diagnosis. These tumors may occur in any CNS site but almost 60% are located in the cerebellum. The most common chromosomal abnormality involves chromosome 22.
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Beckwith JB, Palmer NF: Histopathology and prognosis of Wilms' tumor. Results from the First National Wilms' Tumor Study. Cancer 41: 1937–1948, 1978
Haas JE, Palmer NF, Weinberg AG, Beckwith JB: Ultrastructure of malignant rhabdoid tumor of the kidney. A distinctive renal tumor of children. Hum Pathol 12: 646–657, 1981
Bonnin JM, Rubinstein LJ, Palmer NF, Beckwith JB: The association of embryonal tumors originating in the kidney and in the brain. A report of seven cases. Cancer 54: 2137–2146, 1984
Misugi K, Yagashita S, Koyama S, Asano H, Surgane Y: An infant with medulloblastoma and Wilms' tumor. Yokahama Med Bull 25: 39–43, 1977
DeChadarevian J-P, Vekemans M, Bernstein M: Fanconi's anemia, medulloblastoma, Wilms' tumor, horseshoe kidney, and gonadal dysgenesis. Arch Pathol Lab Med 109: 367–369, 1985
Howat AJ, Gonzalez MF, Waters KD, Campbell PE: Primitive neuroectodermal tumor of the central nervous system associated with malignant rhabdoid tumor of the kidney: report of a case. Histopathology 19: 643–650, 1986
Chang CH, Ramirez N, Sakr WA: Primitive neuroectodermal tumor of the brain associated with malignant rhabdoid tumor of the liver: A histologic immunohistochemical and electron microscopic study. Pediatr Path 9: 307–319, 1989
Ehret M, Jacobi G, Hey A, Segerer S: Embryonal brain neoplasm in the neonatal period and early infancy. Clin Neuropathol 6: 218–223, 1987
Tsujimura T, Wada A, Kawano K, Iwasa A, Mizutani S: A case of malignant rhabdoid tumor arising from soft parts in the prepubic region. Acta Pathol Jpn 39: 677–682, 1989
Small EJ, Gordon GJ, Dahms BB: Malignant rhabdoid tumor of the heart in an infant. Cancer 55: 2850–2853, 1985
Ekfors TO, Aho HJ, Kekomaki M: Malignant rhabdoid tumor of the prostatic region. Immunohistological and ultrastructural evidence of epithelial origin. Virchows Arch [A] 406: 381–388, 1985
Lemos LB, Hamondi AB: Malignant thymic tumor in an infant (malignant histiocytoma). Arch Pathol Lab Med 102: 84–89, 1978
Parham DM, Peiper SC, Robicheaux G, Ribeiro RC, Douglass EC: Malignant rhabdoid tumor of the liver. Arch Pathol Lab Med 112: 61–64, 1988
Gonzalez-Crussi F, Goldschmidt RA, Hseuh W, Trujillo YP: Infantile sarcoma with intracytoplasmic filamentous inclusions: Distinctive tumor of possible histiocytic origin. Cancer 49: 2365–2375, 1982
Frierson HF, Mills SE, Innes DJ: Malignant rhabdoid tumor of the pelvis. Cancer 55: 1963–1967, 1985
Tsuneyochi M, Daimaru Y, Hashimoto H, Enjoji M: Malignant soft tissue neoplasms with the histologic features of renal rhabdoid tumors. An ultrastructural and immunohistochemical study. Human Pathol 16: 1235–1241, 1985
Lynch HT, Shurin SB, Dahms BB, Izant RB Jr Lynch J, Danes BS: Paravertebral malignant rhabdoid tumor in infancy.In vitro studies of a familial tumor. Cancer 52: 290–296, 1983
Uchida H, Yokoyama S, Nakayama I, Zeze K: An autopsy case of malignant rhabdoid tumor arising from soft parts in the left inguinal region. Acta Jpn 38: 1087–1096, 1988
Perrone T, Swanson PE, Twiggs L, Ulbright TM, Dehner JP: Malignant rhabdoid tumor of the vulva: Is distinction from epithelioid sarcoma possible? Am J Surg Path 13: 848–850, 1989
Schmidt D, Leuschner I, Harms D, Sprenger E, Schäfer H-J: Malignant rhabdoid tumor. A morphological and flow cytometric study. Path Res Pract 184: 202–210, 1989
Harris M, Eyden BP, Joglekar VM: Rhabdoid tumor of the bladder: a histological, ultrastructural and immunocytochemical study. Histopathol 11: 1083–1092, 1987
Kent AL, Mahoney DH, Gresik MV, Streiber CV, Fernbach DJ: Malignant rhabdoid tumor of the extremity. Cancer 60: 1056–1059, 1987
Hunt SJ, Anderson WD: Malignant rhabdoid tumor of the liver. A distinct clinicopathologic entity. Am J Clin Pathol 94: 645–648, 1990
Nakazato Y, Hirato J, Nakanoshi Y, Tamaki O, Yazaki C: Immunohistochemical localization of five classes of intermediate filament in a benign pelvic soft tissue tumor of rhabdoid appearance. Acta Pathol Jpn 40: 65–72, 1991
Bittesini L, Dei Tos AP, Fletcher CDM: Metastatic malignant melanoma showing a rhabdoid phenotype: further evidence of a non-specific histological pattern. Histopathology 20: 167–170, 1992
Gururanzan S, Bowman LC, Parham DM, Wilimas JA, Rao B, Pratt CB, Douglass EC: Primary extracranial rhabdoid tumors. Cancer 71: 2653–2659, 1993
Foschini MP, Van Eyken P, Brace PR, Casteels-Van Daele M, DeVos R, DalCin P, Van den Berghe H, Desmet VJ: Malignant rhabdoid tumor of the liver. A case report. Histopathology 20: 157–165, 1992
Balaton AJ, Vaury P, Videgrain M: Paravertebral malignant rhabdoid tumor in an adult. Path Res Pract 182: 713–716, 1987
Walford N, Dejerrai R, Slater RM, Delemarre JFM, Dingemans KP, Van Den Bergh Weerman MA, Voute PA: Intraorbital rhabdoid tumour following bilateral retinoblastoma. Histopathology 20: 170–173, 1992
Matias C, Nunes JFM, Vincente LF, Almeida MO: Primary malignant rhabdoid tumor of the vulva. Histopathology 18: 576–578, 1990
Garvan RA, Cahalana SF, Kneafsey P, Mynes A, McAllister K: Malignant rhabdoid tumour of soft tissue. An ultrastructural and immunohistological study of a pelvic tumour. Histopathology 11: 183–190, 1987
Patron M, Palacios J, Rodriguez-Peralto JL, Burgos E, Contreros F: Malignant rhabdoid tumor of the tongue. A case report with immunohistochemical and ultrastructural findings. Oral Surg Oral Med Oral Pathol 65: 67–70, 1988
Tsokos M, Kouraklis G, Chandra RS, Bhagavan BS, Triche TJ: Malignant rhabdoid tumor of the kidney and soft tissues. Evidence of a diverse morphological and immunocytochemical phenotype. Arch Pathol Lab Med 113: 115–120, 1989
Yang AH, Chen WYK, Chiang H: Malignant rhabdoid tumour of colon. Histopathology 24: 89–91, 1994
Douglas EC, Valentine M, Rowe ST, Parham DM, Wilimas JA, Sanders JM, Houghton PJ: Malignant rhabdoid tumor: A highly malignant childhood tumor with minimal karyotypic changes. Genes Chromosomes Cancer 2: 210–216, 1990
Jakate SM, Marsden HB, Ingram L: Primary rhabdoid tumor of the brain. Virchows Arch [A] 412: 393–397, 1988
Briner J, Bannwart F, Kleihues P, Odermott B, Janzer R, Willi U, Boltshausen E: Malignant small cell tumor of the brain with intermediate filaments — a case of primary cerebral rhabdoid tumours. (Abstr) Pediatr Pathol 3: 117–118, 1985
Kapur S, Patterson K, Chandra R: Primary rhabdoid tumor of the cerebellum. (Abstr) Pediatr Pathol 5: 101, 1986
Lefkowitz IB, Rorke LB, Packer RJ, Sutton LN, Segal K, Katnick RJ: Atypical teratoid tumor of infancy: definition of an entity. (Abstr) Ann Neurol 22: 448, 1987
Velasco ME, Brown JA, Kini J, Rupert ES: Primary congenital rhabdoid tumor of the brain with neoplastic hydranencephaly. Child's Nerv Syst 9: 185–190, 1993
Biggs PJ, Garen PD, Powers JM, Garvin AJ: Malignant rhabdoid tumor of the central nervous system. Hum Pathol 18: 332–337, 1987
Cossu A, Massarelli G, Manetto V, Viale G, Tanda F, Basincu L, Iuzzolino P, Cossu S, Padovani R, Eusebi V: Rhabdoid tumours of the central nervous system. Virchows Archiv A Pathol Anat 422: 81–85, 1993
Chou SM, Anderson JS: Primary CNS malignant rhabdoid tumor (MRT): report of two cases and review of literature. Clin Neuropathol 10: 1–10, 1993
Hanna SL, Langston JW, Parham DM, Douglass EC: Primary malignant rhabdoid tumor of the brain: clinical, imaging and pathologic findings. AJNR14: 107–115, 1993
Kepes JJ, Moral LA: Malignant rhabdoid tumors (MRT-S) of the central nervous system (CNS) and their morphological features seen in other CNS neoplasms. (Abstr) J Neuropath Exp Neurol 50: 362, 1991
Wilson D, Dempsey RJ, John WJ: Rhabdoid tumor of the conus medullaris. (Abstr) J Neuropath Exp Neurol 49: 33, 1990
Roggendorf W: Primitive neuroectodermal tumor with focal rhabdoid component. (Abstr) Clin Neuropath 10: 106, 1991
Perilongo G, Sutton L, Czaykowski D, Gusnard D, Biegel JA: Rhabdoid tumor of the central nervous system. Med Pediat Oncol 19: 310–317, 1991
Parham DM, Weeks DA, Beckwith JB: The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. An analysis of 42 cases studied with immunohistochemistry or electron microscopy. Am J Surg Pathol 18: 1010–1029, 1994
Sotelo-Avila C, Gonzalez-Crussi F, deMello D, Vogler C, Gooch WM, Gale G, Pena R: Renal and extrarenal rhabdoid tumors in children: a clinicopathologic study of 14 patients. Semin Diagn Pathol 3: 151–163, 1986
Weeks DA, Beckwith JB, Mierau GW, Luckey DW: Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms' Tumor Study Pathology Center. Am J Surg Pathol 13: 439–458, 1989
Ota S, Crabbe DCG, Tran TN, Triche TJ, Shimada H: Malignant rhabdoid tumor. A study with two established cell lines. Cancer 71: 2862–2872, 1993
Giangaspero F, Rigobello L, Badiali M, Loda M, Andreini L, Basso G, Zorgi F, Montaldi A: Large cell medulloblastomas. A distinct variant with highly aggressive behavior. Am J Surg Pathol 16: 687–693, 1992
Ushigome S, Shimada T, Nikaido T, Takasaki S: Histopathologic, diagnostic and histogenetic problems in malignant soft tissue tumors. Acta Pathol Jpn 42: 691–706, 1992
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Rorke, L.B., Packer, R. & Biegel, J. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neuro-Oncol 24, 21–28 (1995). https://doi.org/10.1007/BF01052653
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DOI: https://doi.org/10.1007/BF01052653