Atypical Teratoid Rhabdoid Tumor: A Possible Oriented Female Pathology?

Baiano, Cinzia; Monica, Rosa Della; Franca, Raduan Ahmed; de, María; Cavallo, Luigi Maria; Chiariotti, Lorenzo; Ius, Tamara; Jouanneau, Emmanuel; Somma, Teresa

doi:10.3389/fonc.2022.854437

Cited by 5 publications

(4 citation statements)

References 48 publications

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Section: Discussionmentioning

confidence: 99%

“…7 In infants, ATRTs typically arise in the posterior fossa; in adults, they more commonly occur in the supratentorial region. 2,3,8,9 Among adults, approximately 60 cases of ATRT have been reported in the sellar region. Molecular genetic analysis of the ATRT case presented in this study revealed compound heterozygous SMARCB1 point mutations, specifically the SMARCB1 L135fs c.403delC and SMARCB1 Q260* c.778C > T variants.…”

Section: Discussionmentioning

confidence: 99%

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Sellar atypical teratoid/rhabdoid tumor in adults: survival analysis of treatment strategies. Illustrative case

Zamudio-Coronado,

Zohdy,

Maldonado

et al. 2023

Journal of Neurosurgery: Case Lessons

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BACKGROUND Atypical teratoid/rhabdoid tumor (ATRT) is a rare, highly aggressive central nervous system tumor predominantly found in children. Limited information exists on ATRT in adults, posing challenges in diagnosis and treatment. This study presents the case of an adult patient with ATRT in the sellar region and explores the impact of different treatment regimens on patient survival. OBSERVATIONS A 60-year-old female with an ATRT underwent resection of the tumor, followed by adjuvant chemoradiotherapy. Molecular genetic analysis revealed compound heterozygous SMARCB1 point mutations. Survival analysis was performed on previously published adult ATRT cases, comparing treatment approaches. The cohort’s overall median survival was 6 months, with patients receiving combined chemoradiotherapy showing the longest median survival of 23.5 months. Statistical analysis demonstrated a significant difference in survival between patients treated with surgery alone and those receiving surgery followed by chemoradiotherapy (p < 0.001). However, no significant difference was observed between patients treated with surgery alone and those with postoperative radiotherapy (p = 0.105). LESSONS Early initiation of adjuvant chemoradiotherapy following surgery improves survival outcomes in adult patients with ATRT. Because of limited data on standardized treatment protocols for adults with ATRT, further research and larger-scale studies are needed to establish effective treatment guidelines for this population.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Sellar atypical teratoid/rhabdoid tumor in adults: survival analysis of treatment strategies. Illustrative case

Zamudio-Coronado,

Zohdy,

Maldonado

et al. 2023

Journal of Neurosurgery: Case Lessons

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“…Hypothalamic–pituitary metastatic lesions represent a very challenging diagnosis: clinical signs are not different from the other lesions affecting this area, and there are no pathognomonic signs at MRI or CT scan ( 6 , 26 ). Moreover, the lack of a certain presence of tumor history jeopardizes the likelihood of a lesion of the hypothalamic–pituitary region being a metastasis ( 9 ).…”

Section: Discussionmentioning

confidence: 99%

Evolution in endoscopic endonasal approach for the management of hypothalamic–pituitary region metastasis: A single-institution experience

Baiano

Somma²,

Franca³

et al. 2022

Front. Oncol.

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IntroductionEndonasal endoscopic surgery has changed the treatment perspectives for different lesions of the hypothalamic–pituitary region. The metastases of the hypothalamic–pituitary region represent 0.4% of all intracranial metastatic tumors and account for only 1.8% of surgically managed pituitary lesions. The aim of tshis study is to describe a single-center institutional experience with 13 cases of hypothalamic–pituitary metastasis focused on presurgical workup, the evolution of the surgical technique, and postsurgical management according to our protocols, showing effects on progression-free and overall survival rates for this relatively uncommon location.Material and MethodsWe retrospectively reviewed the whole series of patients that received the endoscopic endonasal approach at the Division of Neurosurgery at the University of Naples “Federico II” undergoing surgery from January 1997 to December 2021. We identified 13 cases whose pathology reports revealed a metastatic lesion. Statistical analysis was performed to determine the Kaplan–Meier survival function and assess for log-rank differences in survival based on gender, surgical treatment, and postoperative therapy (p-value < 0.02*).ResultsThe pathology report disclosed lung adenocarcinoma (six cases, 46%), breast adenocarcinoma (two cases, 15.4%), clear cell renal carcinoma (one case, 7%), melanoma (one case, 7%), colorectal adenocarcinoma (one case, 7%), uterine cervix carcinoma (one case, 7%), and follicular thyroid carcinoma (one case, 7%). A standard endoscopic endonasal approach was performed in 10 patients (76.9%), while an extended endonasal procedure was performed in only three cases (23%). Biopsy was the surgical choice in five patients with infiltrative and invasive lesions and a poor performance status (38%), while in the cases where neurovascular decompression was necessary, a subtotal resection was achieved in five patients (38%) and partial resection in three patients (23%). Recovery of visual field defect was observed in six of seven patients with visual loss (85.7%), improvement of oculomotor nerve palsy occurred in four of seven patients with this defect (57.1%), while the impairment of oculomotor palsy was observed in three patients (42.9%). Visual function was stable in the other patients. The median progression-free survival and overall survival were 14 and 18 months, respectively. There were statistically significant differences in PFS and OS in patients who underwent adjuvant radiotherapy (p=0.019 is referred to OS and p=0.017 to PFS, respectively; p-value = 0.02).ConclusionsThe endoscopic endonasal approach is a viable approach for the management of hypothalamic–pituitary metastases as this surgery provides an adequate opportunity to obtain tissue sample and neurovascular decompression, both being crucial for continuing the integrated adjuvant therapy protocols.

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“…The extracted DNA was converted using bisulfite (EZ gold Kit, Zymo Research, Irvine, CA, USA), following the manufacturer's instructions. The bisulfite-treated DNA was analyzed using the Illumina EPIC ARRAY 850 Bead-Chip (Infinium human methylation EPIC, Illumina, San Diego, CA, USA), as described in [9]. The array covered 850.000 CpG distributed across the genome.…”

Section: Classification Based On Dna Methylation Profilingmentioning

confidence: 99%

A Rare Adult Primary Intracranial Sarcoma, DICER1-Mutant Identified by Epigenomic Profiling: A Case Report

et al. 2023

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Diagnoses of primary malignant mesenchymal brain tumors are a challenge for pathologists. Here, we report the case of a 52-year-old man with a primary brain tumor, histologically diagnosed as a high-grade glioma, not otherwise specified (NOS). The patient underwent two neurosurgeries in several months, followed by radiotherapy and chemotherapy. We re-examined the tumor samples by methylome profiling. Methylome analysis revealed an epi-signature typical of a primary intracranial sarcoma, DICER1-mutant, an extremely rare tumor. The diagnosis was confirmed by DNA sequencing that revealed a mutation in DICER1 exon 25. DICER1 mutations were not found in the patient’s blood cells, thus excluding an inherited DICER1 syndrome. The methylome profile of the DICER1 mutant sarcoma was then compared with that of a high-grade glioma, a morphologically similar tumor type. We found that several relevant regions were differentially methylated. Taken together, we report the morphological, epigenetic, and genetic characterization of the sixth described case of an adult primary intracranial sarcoma, DICER1-mutant to-date. Furthermore, this case report underscores the importance of methylome analysis to refine primary brain tumor diagnosis and to avoid misdiagnosis among morphologically similar subtypes.

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Atypical Teratoid Rhabdoid Tumor: A Possible Oriented Female Pathology?

Cited by 5 publications

References 48 publications

Sellar atypical teratoid/rhabdoid tumor in adults: survival analysis of treatment strategies. Illustrative case

Sellar atypical teratoid/rhabdoid tumor in adults: survival analysis of treatment strategies. Illustrative case

Evolution in endoscopic endonasal approach for the management of hypothalamic–pituitary region metastasis: A single-institution experience

A Rare Adult Primary Intracranial Sarcoma, DICER1-Mutant Identified by Epigenomic Profiling: A Case Report

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