A Pediatric Intra-Axial Malignant SMARCB1-Deficient Desmoplastic Tumor Arising in Meningioangiomatosis

Sabrina Rossi, Monica Brenca, Lucia Zanatta, Elena Trincia, Angela Guerriero, Cristina Pizzato, Alessandro Fiorindi, Elisabetta Viscardi, Felice Giangaspero, Roberta Maestro, Angelo Paolo Dei Tos, Caterina Giannini

Research output: Contribution to journalArticle

Abstract

SMARCB1 inactivation is a well-established trigger event in atypical teratoid/rhabdoid tumor. Recently, a role for SMARCB1 inactivation has emerged as a mechanism of clonal evolution in other tumor types, including rare brain tumors. We describe an unusual malignant intra-axial SMARCB1-deficient spindle cell desmoplastic neoplasm, occurring in a 6-year-old child with meningioangiomatosis and a long history of seizures. Striking features of the tumor were a storiform pattern and strong CD34 expression. Undifferentiated round cell areas with isolated rhabdoid cells showing high mitotic index and focal necrosis with INI1 expression loss were present. The meningioangiomatosis component showed few chromosomal imbalances, including chromosomal 22 monosomy (where SMARCB1 maps) and gain at 6q14.3. In addition to these abnormalities, the spindle cell desmoplastic neoplasm and its dedifferentiated SMARCB1-deficient component shared several other aberrations, including homozygous deletion at 9p21.3, losses at 1p, 3p, 3q, 10p, and 13q, gains and losses at 5p and 11p. In line with INI1 loss, the dedifferentiated component showed remarkably decreased levels of SMARCB1 transcript. The residual SMARCB1 allele was wildtype. Our findings suggest progression from the meningioangiomatosis to the malignant desmoplastic neoplasm through the occurrence of complex chromosomal abnormalities, and point to functional silencing of SMARCB1 in the dedifferentiation component.

Original languageEnglish
Pages (from-to)883-889
Number of pages7
JournalJournal of Neuropathology and Experimental Neurology
Volume77
Issue number10
DOIs
Publication statusPublished - Oct 1 2018

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Pediatrics
Neoplasms
Clonal Evolution
Monosomy
Mitotic Index
Brain Neoplasms
Chromosome Aberrations
Seizures
Necrosis
Alleles

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A Pediatric Intra-Axial Malignant SMARCB1-Deficient Desmoplastic Tumor Arising in Meningioangiomatosis. / Rossi, Sabrina; Brenca, Monica; Zanatta, Lucia; Trincia, Elena; Guerriero, Angela; Pizzato, Cristina; Fiorindi, Alessandro; Viscardi, Elisabetta; Giangaspero, Felice; Maestro, Roberta; Dei Tos, Angelo Paolo; Giannini, Caterina.

In: Journal of Neuropathology and Experimental Neurology, Vol. 77, No. 10, 01.10.2018, p. 883-889.

Research output: Contribution to journalArticle

Rossi, Sabrina ; Brenca, Monica ; Zanatta, Lucia ; Trincia, Elena ; Guerriero, Angela ; Pizzato, Cristina ; Fiorindi, Alessandro ; Viscardi, Elisabetta ; Giangaspero, Felice ; Maestro, Roberta ; Dei Tos, Angelo Paolo ; Giannini, Caterina. / A Pediatric Intra-Axial Malignant SMARCB1-Deficient Desmoplastic Tumor Arising in Meningioangiomatosis. In: Journal of Neuropathology and Experimental Neurology. 2018 ; Vol. 77, No. 10. pp. 883-889.
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AU - Guerriero, Angela

AU - Pizzato, Cristina

AU - Fiorindi, Alessandro

AU - Viscardi, Elisabetta

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AB - SMARCB1 inactivation is a well-established trigger event in atypical teratoid/rhabdoid tumor. Recently, a role for SMARCB1 inactivation has emerged as a mechanism of clonal evolution in other tumor types, including rare brain tumors. We describe an unusual malignant intra-axial SMARCB1-deficient spindle cell desmoplastic neoplasm, occurring in a 6-year-old child with meningioangiomatosis and a long history of seizures. Striking features of the tumor were a storiform pattern and strong CD34 expression. Undifferentiated round cell areas with isolated rhabdoid cells showing high mitotic index and focal necrosis with INI1 expression loss were present. The meningioangiomatosis component showed few chromosomal imbalances, including chromosomal 22 monosomy (where SMARCB1 maps) and gain at 6q14.3. In addition to these abnormalities, the spindle cell desmoplastic neoplasm and its dedifferentiated SMARCB1-deficient component shared several other aberrations, including homozygous deletion at 9p21.3, losses at 1p, 3p, 3q, 10p, and 13q, gains and losses at 5p and 11p. In line with INI1 loss, the dedifferentiated component showed remarkably decreased levels of SMARCB1 transcript. The residual SMARCB1 allele was wildtype. Our findings suggest progression from the meningioangiomatosis to the malignant desmoplastic neoplasm through the occurrence of complex chromosomal abnormalities, and point to functional silencing of SMARCB1 in the dedifferentiation component.

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