PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report

Assi, Hazem; Kakati, Rasha; Berro, Juliett; Saikali, Ibrahim; Youssef, Bassem; Hourany, Roula; Alameh, Ibrahim; Tabbarah, Abeer; Khoury, Jessica; Darwish, Hala; Alame, Saada

doi:10.3390/curroncol28020121

Cited by 3 publications

(1 citation statement)

References 10 publications

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“…The chromosomal microarray of the resected tumor was arguably the most helpful study, as it demonstrated the loss of chromosomes 10 and X, and the gain of material on chromosomes 8, 9, and 12. Previous molecular studies have shown the loss of chromosome 10 in 75% of cases of PTPRs, making this feature characteristic of this type of tumor [5]. Additionally, the pattern of genomic alterations present in our patient's tumor has been reported in prior cases of PTPR and would be an unusual finding for other primary pineal region masses, including pineoblastoma, ependymomas, and primary CNS tumors [6].…”

Section: Cam52 On Tumor Cells With B) Patchy Positivity For S100 On T...supporting

confidence: 69%

An Unusual Finding: Papillary Tumor of the Pineal Region

Kennedy¹,

Degueure²,

Dai³

et al. 2023

Cureus

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A papillary tumor of the pineal region (PTPR) is a rare tumor of neuroepithelial origin formed from specialized ependymocytes of the subcommissural organ located in the lining of the posterior commissure, not the pineal gland itself. Patients with this type of tumor generally present with nonspecific symptoms secondary to obstructive hydrocephalus such as headache and vision changes. The mean age of patient presentation is 31, with a slight predominance in females. This type of tumor has a high rate of recurrence (56%) following surgical resection. This case study describes the presentation of this uncommon tumor in a 61-year-old woman, including presentation, imaging, surgery, and pathology findings.

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Section: Cam52 On Tumor Cells With B) Patchy Positivity For S100 On T...supporting

confidence: 69%

An Unusual Finding: Papillary Tumor of the Pineal Region

Kennedy¹,

Degueure²,

Dai³

et al. 2023

Cureus

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SNO-EANO-EURACAN consensus on management of pineal parenchymal tumors

Liu,

Li,

Vasiljevic

et al. 2024

Neuro-Oncology

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Pineal parenchymal tumors are rare neoplasms for which evidence-based treatment recommendations are lacking. These tumors vary in biology, clinical characteristics, and prognosis, requiring treatment that ranges from surgical resection alone to intensive multimodal antineoplastic therapy. Recently, international collaborative studies have shed light on the genomic landscape of these tumors, leading to refinement in molecular-based disease classification in the 5th edition of the World Health Organization (WHO) classification of tumors of the central nervous system. In this review, we summarize the literature on diagnostic and therapeutic approaches, and suggest pragmatic recommendations for the clinical management of patients presenting with intrinsic pineal region masses including parenchymal tumors (pineocytoma, pineal parenchymal tumor of intermediate differentiation, and pineoblastoma), pineal cyst, and papillary tumors of the pineal region.

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Determination of Optimal Treatment Plan for Papillary Tumor of the Pineal Region: Case Series With Literature Review

Pang,

Mazur-Hart,

Yaghi

et al. 2024

Brain Tumor Res Treat

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Background Papillary tumor of the pineal region (PTPR) is a rare neuroepithelial tumor with Central Nervous System (CNS) World Health Organization (WHO) grade II or III classification. Due to its rarity, there is no clear census on treatment. The purpose of this study is to identify the optimal treatment plan focused on extending overall survival (OS). Methods This is an institutional case series with review of the literature. Fifty-three publications were analyzed. Only cases with histological diagnosis of PTPR were included. Data collected included demographics, treatment modalities, disease progression, and OS. Results The analysis included 105 patients from the literature and 3 new cases (54 female, 50%) with an average age of 33.1 years (range 1–73 years). The average lesion size was 26.4 mm (range 5–50 mm) in longest axis. All patients underwent an initial resection. There were 46 cases of surgery alone. The remaining cases received adjuvant therapy including radiation (RT), stereotactic radiosurgery (SRS), chemotherapy (CT), or RT and CT. The average follow-up was 61.4 months (range 1–240 months). OS at 1 year was 96.9%, at 5 years was 87.5%, and at 10 years was 80.2%. Overall progression-free survival (PFS) was 57.4%. Statistical significance was observed in PFS in the surgery plus SRS group and surgery plus CT and RT group. Surgery with SRS had the best PFS (75%), and OS at 1 year (100%) and 5 years (88.9%). Surgery with CT and RT had the best OS at 10 years (85.7%). Conclusion We describe a case series and literature review of PTPR to help guide the most effective treatment strategies for this rare disease entity. We recommend surgery followed by SRS as the treatment of choice because of its best PFS and 5-year survival rates. We would also recommend adding chemotherapy in the event of disease progression or recurrence as adjuvant radiation and chemotherapy provided the best 10-year survival.

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PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report

Cited by 3 publications

References 10 publications

An Unusual Finding: Papillary Tumor of the Pineal Region

An Unusual Finding: Papillary Tumor of the Pineal Region

SNO-EANO-EURACAN consensus on management of pineal parenchymal tumors

Determination of Optimal Treatment Plan for Papillary Tumor of the Pineal Region: Case Series With Literature Review

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