Primary atypical teratoid rhabdoid tumor in the adult spine

McGinity, Michael; Siddiqui, Huma; Singh, Gulpreet; Tio, Fermin O.; Shakir, Ahmed

doi:10.4103/2152-7806.202132

Cited by 11 publications

(7 citation statements)

References 7 publications

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“…Interestingly, ATRT can be supratentorial or infratentorial in children, while it is mostly supratentorial in adults . In particular, adult ATRTs are generally located in the cerebral hemispheresand rarely in the spine or pineal gland . However, a total of 16 adult ATRTs have been observed in the sellar region .…”

Section: Introductionmentioning

confidence: 99%

Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description

et al. 2017

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Atypical teratoid rhabdoid tumor (ATRT) is an aggressive tumor of the CNS and characteristically occurs in the pediatric age. In adulthood, ATRT is rare and it is mainly localized in the cerebral hemispheres. Only 16 cases of ATRT have been described in the sellar region up to now. Interestingly, all sellar ATRTs occurred in adult female patients. Herein we report a novel case of sellar ATRT in a patient with previous history of lactotroph adenoma. Similar to other sellar ATRTs, this case occurred in a female adult patient. At histological examination, it was characterized by a small number of rhabdoid cells. In addition, it did not have homozygous deletion of SMARCB1 gene, but it rather showed a frameshift mutation at exon 4 of SMARCB1 which had not been previously found in ATRT. Clinico-pathological and molecular findings observed in this case confirm previous evidence that sellar ATRT seems to be a distinct entity. Association with previous prolactin-secreting pituitary adenoma is discussed.

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Section: Introductionmentioning

confidence: 99%

Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description

et al. 2017

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“…4,17 However, surgery should be a vital part of the treatment, and R0 resection should be performed as much as possible. [52][53][54] Many targeted therapies for SWI/SNF complex-deficient tumors have emerged in recent years. The synthetic lethal relationship, as previously mentioned, provides a possible solution for SWI/SNF-mutated carcinomas.…”

Section: Discussionmentioning

confidence: 99%

“…4,17 However, surgery should be a vital part of the treatment, and R0 resection should be performed as much as possible. 52–54…”

Section: Discussionmentioning

confidence: 99%

Switch/Sucrose Non-Fermentable Complex-Deficient Rhabdoid Carcinoma of Stomach: A Rare Case Report and Literature Review

et al. 2023

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Gastric undifferentiated/rhabdoid carcinoma is a rare highly invasive tumor of epithelial origin. Due to mutations in the switch/sucrose non-fermentable (SWI/SNF) complex, these tumor cells are usually dedifferentiated, presenting a characteristic rhabdoid profile. In this report, we present a gastric rhabdoid carcinoma in a 77-year-old man who presented with intermittent epigastric pain. Gastroscopy revealed a giant ulcer in the antrum, which proved to be a malignant tumor in the biopsy. Therefore, he was admitted to our hospital and underwent laparoscopic radical gastrectomy and D2 lymphadenectomy. The resected neoplasm contained a variety of rhabdoid cells that lacked well-differentiated elements. Immunohistochemical staining revealed that SMARCA4/BRG1 expression was absent in tumor cells. Finally, the patient was diagnosed with undifferentiated/rhabdoid carcinoma of the stomach. The patient was treated with tegafur-gimeracil-oteracil potassium capsules postoperatively. There were no signs of imaging changes observed at the 18-month follow-up. We reviewed similar cases in previous reports. These tumors are more likely to affect older male adults and usually lack typical symptoms. Histologically, most tumor cells are poorly cohesive and rhabdoid, and differentiated compositions of various degrees can occasionally be seen. Positive staining for vimentin was seen in all tumor cells. Epithelial markers are positive in the majority of tumors. SWI/SNF mutant tumors tend to be associated with a poor prognosis. In this review, more than half of the patients died within one year after surgery. The treatments for these diseases are still being explored.

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“…In the paediatric and adolescent patients with spinal AT/RT, the age at presentation is usually <3 years (range 2 months–19 years) [5]. This entity has also been reported in the adult age-group [13-15]. A male preponderance has been noted in patients with primary spinal AT/RT [5, 16].…”

Section: Discussionmentioning

confidence: 99%

Successful Multimodality Management of Atypical Teratoid/Rhabdoid Tumour of the Lower Dorsal Spine with Spinal Drop Metastasis: Illustrated Review

et al. 2021

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Introduction: Spinal atypical teratoid/rhabdoid tumour (AT/RT) is exquisitely rare and constitutes 2% of all AT/RTs. Case Presentation: A 6-year-old boy presented with low backache for the last 5 months. MRI of the spine showed a 1.5 × 1.5 × 4.7 cm intradural extramedullary mass extending from D10 to D12, causing compression of the conus medullaris. With a preoperative diagnosis of ependymoma, a gross total resection (GTR) of tumour was performed. Post-operative histopathology showed AT/RT. The tumour cells were immunopositive for cytokeratin, epithelial membrane antigen, smooth muscle actin, and p53 and immunonegative for MIC2, desmin, glial fibrillary acidic protein, and INI1. Post-operative neuraxis MRI revealed post-operative changes (D10–D12) with a 9 mm enhancing lesion at L5-S1 junction suggesting drop metastasis. There was no lesion in brain. Cerebrospinal fluid cytology did not show any malignant cell. The metastatic work-up was normal. He received 3 cycles of chemotherapy with ICE regimen (ifosfamide, carboplatin, and etoposide). Subsequently, he received craniospinal irradiation (CSI)-36 Gy/20 fractions/4 weeks followed by focal boost to primary tumour bed and spinal drop metastasis-14.4 Gy/8 fractions/1.5 weeks. Thereafter, he received 3 more cycles of ICE regimen. End-of-treatment MRI spine showed post-op changes (D10–D12) and 38.9% reduction of the L5-S1 lesion suggesting partial response. Six monthly spinal MRI showed serial reduction of the metastatic lesion leading to complete response (CR) 1 year after completion of treatment. On last follow-up (30 months from the initial diagnosis), he was neurologically intact and in CR. Conclusion: Multimodality management comprising GTR of tumour, CSI followed by focal boost, and multiagent chemotherapy (ICE) can lead to successful outcome in patients with this rare and aggressive spinal tumour.

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Primary atypical teratoid rhabdoid tumor in the adult spine

Cited by 11 publications

References 7 publications

Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description

Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description

Switch/Sucrose Non-Fermentable Complex-Deficient Rhabdoid Carcinoma of Stomach: A Rare Case Report and Literature Review

Successful Multimodality Management of Atypical Teratoid/Rhabdoid Tumour of the Lower Dorsal Spine with Spinal Drop Metastasis: Illustrated Review

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