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

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.

Rapid progression of rhabdoid components of a composite high-grade glioma and rhabdoid tumor in the occipital lobe of an adult

“…Anaplastic astrocytoma in a 22-month-old child was reported [9], which recurred 4 years after the first occurrence and demonstrated histological features and immunohistochemical staining patterns that were consistent with AT/RT; this tumor also showed loss of INI1 expression. The other report was of a 23-year-old man with a tumor containing glial and rhabdoid elements, where the former had features of pleomorphic xanthoastrocytoma and the latter the immunophenotype and genetic profile of AT/RT [38]; the tumor presented rapid progression and deteriorated despite radical surgery and radiotherapy. The last case was a pilocytic astrocytoma in an 18-month-old child [44], which recurred dramatically 9 years after the initial presentation and demonstrated a ganglioglioma that had developed an AT/RT component.…”

Atypical teratoid/rhabdoid tumor in sellar turcica in an adult: A case report and review of the literature

“…[3238] Adult cases are rare and, as far as we are aware, only 42 cases have been reported to date [Table 1]. [2345910111213141516171821232425262729303133343536373941] Furthermore, there are only seven adult cases arising in the sellar turcica described in the literature. [224253034]…”

SMARCB1 Deficiency in Tumors From the Peripheral Nervous System

“…A multistep malignant transformation of a preexistent benign nervous lesion. In this hypothesis, the rhabdoid features would be secondarily acquired from a primary nonrhabdoid proliferation by the biallelic inactivation of SMARCB1, as described in other glial tumors 1,12 and as suggested by Carter et al 11 in PNS. This hypothesis of a multistep tumoral evolution might account for the long delay between first neurological symptoms and diagnosis observed in some patients.…”

“…Mean age at diagnosis was 6.6 years (range, 0 to 45 y), and the diagnosis was made before 12 Eight patients presented at diagnosis with neurological symptoms lasting for several months (up to 1 y; Supplementary Figure 1, Supplemental Digital Content 1 http://links.lww.com/PAS/A117). In these cases, the diagnosis of RT was not primarily suggested because of atypical location or slow-growing behavior (Table 1).…”