Autopsy and Case Reports
https://autopsyandcasereports.org/article/doi/10.4322/acr.2020.205
Autopsy and Case Reports
Autopsy Case Report

Congenital presentation of synchronous Atypical Teratoid Rhabdoid Tumor and Malignant Rhabdoid Tumor of the urinary bladder in a term infant

Vivian Tang; Peter Michael Conner; Jason Paul Tovar; Regina Frances Gandour-Edwards; Reuben Antony; Matthew Bobinski; Michael Steven Brent Edwards; Mirna Lechpammer

Downloads: 0
Views: 10

Abstract

ABSTRACT: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare central nervous system (CNS) tumor diagnosed primarily in infants and usually portends a poor prognosis. Despite being the most common embryonal tumor in children less than 1 year old, diagnosis is difficult to make based on clinical findings or imaging alone. A complete diagnosis of AT/RT requires identification of loss of integrase interactor 1 (INI1) protein or the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 (SMARCB1) gene, in its most common presentation. Moreover, their presentation with other primary rhabdoid tumors in the body raises significant suspicion for rhabdoid tumor predisposition syndrome (RTPS). We report a case of a one-month-old infant admitted for worsening emesis and failure to thrive, who was later found to have brain and bladder masses on radiologic imaging. Autopsy with subsequent immunoprofile and molecular testing were crucial in establishing the absence of INI1 nuclear expression and possible homozygous deletion of SMARCB1 in the urinary bladder tumor tissue. Sequencing of the peripheral blood demonstrated probable single copy loss at the SMARCB1 locus. The constellation of findings in tumor and peripheral blood sequencing suggested the possibility of germline single copy SMARCB1 loss, followed by somatic loss of the remaining SMARCB1 allele due to copy neutral loss-of-heterozygosity. Such a sequence of genetic events has been described in malignant rhabdoid tumors (MRT). Dedicated germline testing of this patient’s family members could yield answers as to whether rhabdoid tumor predisposition syndrome will continue to have implications for the patient’s family.

Keywords

Rhabdoid Tumor, Brain Neoplasms, Urinary Bladder Neoplasms, Autopsy, Infant

References

1 Centers for Disease Control and Prevention (CDC). Birth to 24 months: Girls Weight-for-length percentiles and Head circumference-for-age percentiles. Atlanta: CDC; 2009 [cited 2020 Apr 19]. Available from: https://www.cdc.gov/growthcharts/data/who/GrChrt_Girls_24HdCirc-L4W_9210.pdf

2 Evetts AM, Shkrum MJ, Tugaleva E. A new reference source for postmortem body measurements and organ weights in neonates and infants: a statistical analysis based on sudden death classification (Part 2). Am J Forensic Med Pathol. 2018;39(4):285-303. http://dx.doi.org/10.1097/PAF.0000000000000401. PMid:29794804.

3 Molina DK, Pinneri K, Stash JA, Li L, Vance K, Cross C. Organ weight reference ranges for ages 0 to 12 Years. Am J Forensic Med Pathol. 2019;40(4):318-28. http://dx.doi.org/10.1097/PAF.0000000000000481. PMid:30969175.

4 Haas JE, Palmer NF, Weinberg AG, Beckwith JB. Ultrastructure of malignant rhabdoid tumor of the kidney. A distinctive renal tumor of children. Hum Pathol. 1981;12(7):646-57. http://dx.doi.org/10.1016/S0046-8177(81)80050-0. PMid:7275104.

5 Tsuneyoshi M, Daimaru Y, Hashimoto H, Enjoji M. The existence of rhabdoid cells in specified soft tissue sarcomas. Histopathological, ultrastructural and immunohistochemical evidence. Virchows Arch A Pathol Anat Histopathol. 1987;411(6):509-14. http://dx.doi.org/10.1007/BF00713281. PMid:2445098.

6 Rorke LB, Packer R, Biegel J. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neurooncol. 1995;24(1):21-8. http://dx.doi.org/10.1007/BF01052653. PMid:8523069.

7 Zangari A, Zaini J, Gulìa C. Genetics of bladder malignant tumors in childhood. Curr Genomics. 2016;17(1):14-32. http://dx.doi.org/10.2174/1389202916666151014221954. PMid:27013922.

8 Ostrom QT, Chen YM, de Blank P, et al. The descriptive epidemiology of atypical teratoid/rhabdoid tumors in the United States, 2001-2010. Neuro-oncol. 2014;16(10):1392-9. http://dx.doi.org/10.1093/neuonc/nou090. PMid:24847086.

9 Biegel JA. Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus. 2006;20(1):E11. http://dx.doi.org/10.3171/foc.2006.20.1.12. PMid:16459991.

10 Reddy AT, Strother DR, Judkins AR, et al. Efficacy of high-dose chemotherapy and three-dimensional conformal radiation for atypical teratoid/rhabdoid tumor: a report from the children’s oncology group trial ACNS0333. J Clin Oncol. 2020;38(11):1175-85. http://dx.doi.org/10.1200/JCO.19.01776. PMid:32105509.

11 Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res. 1999;59(1):74-9. PMid:9892189.

12 Versteege I, Sévenet N, Lange J, et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature. 1998;394(6689):203-6. http://dx.doi.org/10.1038/28212. PMid:9671307.

13 Louis DN, Ohgaki H, Wiestler OD, Cavenee WK. WHO classification of tumours of the central nervous system. 4th ed. Lyon: IARC; 2016.

14 Sredni ST, Tomita T. Rhabdoid tumor predisposition syndrome. Pediatr Dev Pathol. 2015;18(1):49-58. http://dx.doi.org/10.2350/14-07-1531-MISC.1. PMid:25494491.

15 Bourdeaut F, Lequin D, Brugières L, et al. Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res. 2011;17(1):31-8. http://dx.doi.org/10.1158/1078-0432.CCR-10-1795. PMid:21208904.

16 Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer. 2011;56(1):7-15. http://dx.doi.org/10.1002/pbc.22831. PMid:21108436.

17 Hasselblatt M, Nagel I, Oyen F, et al. SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathol. 2014;128(3):453-6. http://dx.doi.org/10.1007/s00401-014-1323-x. PMid:25060813.
 


Submitted date:
04/11/2020

Accepted date:
06/28/2020

Publication date:
11/20/2020

5fb7b7e90e88256c74093a73 autopsy Articles
Links & Downloads

Autops Case Rep

Share this page
Page Sections