Materiały źródłowe

• #1 Epidemiology of pineoblastoma in the United States, 2000-2017 – PubMed

  https://pubmed.ncbi.nlm.nih.gov/35371520/

  Pineoblastoma (PB) is a rare malignant brain tumor originating in the pineal gland. Here, we provide a comprehensive epidemiological analysis of PB in the United States from 2000 to 2017. […] Data on 1133 patients with PB were acquired from the Central Brain Tumor Registry of the United States, in collaboration with the Centers for Disease Control and Prevention and the National Cancer Institute, from 2000 to 2017. Age-adjusted incidence rates (AAIRs) per 100 000 and incidence rate ratios (IRRs) were reported for age, sex, race, and ethnicity. […] Incidence was highest in ages 0-4 years (AAIR: 0.049, 95% CI: 0.042-0.056), decreasing as age increased. Incidence was higher among patients who are Black compared to patients who are White (IRR: 1.71, 95% CI: 1.48-1.98,P.001), and was impacted by age at diagnosis, with Black-to-White incidence highest in children ages 5-9 years (IRR: 3.43, 95% CI: 2.36-4.94,P.001). […] Comprehensive, population-based statistics provide critical information on PB characteristics that could be useful in impacting patient care and prognosis.

• #2 Pineoblastoma – Brief information

  https://www.gpoh.de/kinderkrebsinfo/content/diseases/brain_tumours/pohpatinfomedullo120080109/literatur/index_eng.html

  Pineoblastomas are very rare: with about three or four newly diagnosed patients under 18 years of age per year, they account for less than 1 % of all CNS tumours in childhood and adolescence in Germany. […] The cure rates for children and adolescents with pineoblastoma are about 6070 % (5-year-survival rate). However, in individual patients, prognosis is dependent on various factors.

• #3 Pathology Outlines – Pineoblastoma

  https://www.pathologyoutlines.com/topic/cnstumorpineoblastoma.html

  Pineal tumors are rare, representing < 1% of all CNS neoplasms (Neuro Oncol 2023;25:iv1) [...] Pineoblastoma represents ~30 - 35% of all pineal parenchymal tumors [...] Pineoblastoma typically arise in children / adolescents, with the overall median age of 6 years, depending on the molecular subtype (Acta Neuropathol 2021;141:771)

• #4 Pineoblastoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/pineoblastoma?lang=us/1000

  Pineoblastomas are the most aggressive pineal parenchymal tumor and account for a substantial proportion of such tumors (24-50%). They are typically found in young children, with only a slight female predilection (M:F 0.7:1; similar to other pineal parenchymal tumors), which is in contrast to the male predominance seen in pineal germinomas. […] There is a well-established association with hereditary retinoblastomas. Around 5% of patients with hereditary retinoblastoma (who predominantly have bilateral disease) develop midline (suprasellar or pineal) neuroblastic tumors. Such cases are sometimes referred to as trilateral retinoblastoma. […] Patients with DICER1 syndrome have an increased risk for developing pineoblastomas.

• #5 LATEST UPDATES ON PINEOBLASTOMA – Dr Prem Pillay

  https://singaporebrain.org/en/brain/latest-updates-pineoblastoma/

  Median age at diagnosis of 5.5 years. […] Pineoblastomas are the most aggressive pineal parenchymal tumour and account for a substantial proportion of such tumours (24-50%). They are typically found in young children, with both sexes being equally affected (in contrast to the male predominance seen in pineal germinomas). […] Screening of the whole neural axis is necessary as CSF seeding is seen in 45% of cases. […] Using the Surveillance, Epidemiology, and End Results (SEER) cancer registry, Selvanathan et al., investigated clinical and pathological factors associated with outcome in paediatric pineoblastomas. […] The only clinically relevant prognostic factor was older age at diagnosis. The role of surgery and adjuvant radiotherapy on overall survival remains to be defined.

• #6 Epidemiology of pineoblastoma in the United States, 2000–2017

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8965073/

  Pineoblastoma (PB) is a rare malignant brain tumor originating in the pineal gland. Here, we provide a comprehensive epidemiological analysis of PB in the United States from 2000 to 2017. […] Data on 1133 patients with PB were acquired from the Central Brain Tumor Registry of the United States, in collaboration with the Centers for Disease Control and Prevention and the National Cancer Institute, from 2000 to 2017. […] Incidence was highest in ages 04 years (AAIR: 0.049, 95% CI: 0.0420.056), decreasing as age increased. […] Incidence was higher among patients who are Black compared to patients who are White (IRR: 1.71, 95% CI: 1.481.98, P .001), and was impacted by age at diagnosis, with Black-to-White incidence highest in children ages 59 years (IRR: 3.43, 95% CI: 2.364.94, P .001).

• #6 Epidemiology of pineoblastoma in the United States, 2000–2017

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8965073/

  Overall survival was lower for males (HR: 1.39, 95% CI: 1.071.79, P = .013). […] PB incidence is highest among children and patients who are Black, and there may be a potential interaction between these factors. […] Comprehensive, population-based statistics provide critical information on PB characteristics that could be useful in impacting patient care and prognosis. […] This study provides the most current and comprehensive epidemiological analysis on PB in the United States. This is the largest study to assess age-adjusted incidence and survival nationally. PB incidence is highest among children and patients who are Black. There is a potential interaction between age and race that has not been previously reported. Overall survival is worse among males, young children (age 04 years), and elderly adults (age 65+ years), and those who did not receive surgery. Comprehensive, population-based statistics provide information that is critical to understanding disease characteristics and burden of disease that could impact patient care and prognosis.

• #7 Pineoblastoma – Wikipedia

  https://en.wikipedia.org/wiki/Pineoblastoma

  Pineoblastomas typically occur at very young ages. One study found the average age of presentation to be 4.3 years, with peaks at age 3 and 8. […] Rates of occurrence for males and females are similar, but may be slightly more common in females. […] One study found incidence of pineoblastoma to be increased in black patients compared to white patients by around 71%. This difference was most apparent in patients aged 5 to 9 years old.

• #8

  https://scholars.duke.edu/publication/1515341

  All age groups, excluding those over 40, had improved survival compared to ages 0-4 years. […] Those who received surgical intervention had better survival compared to those who did not receive surgical treatment. […] PB incidence is highest among children and patients who are Black, and there may be a potential interaction between these factors. […] Survival is worse among males, young children, and elderly adults, and those who received no surgery. […] Comprehensive, population-based statistics provide critical information on PB characteristics that could be useful in impacting patient care and prognosis.

• #8

  https://scholars.duke.edu/publication/1515341

  Epidemiology of pineoblastoma in the United States, 2000-2017. […] Pineoblastoma (PB) is a rare malignant brain tumor originating in the pineal gland. […] Data on 1133 patients with PB were acquired from the Central Brain Tumor Registry of the United States, in collaboration with the Centers for Disease Control and Prevention and the National Cancer Institute, from 2000 to 2017. […] Incidence was highest in ages 0-4 years (AAIR: 0.049, 95% CI: 0.042-0.056), decreasing as age increased. […] Incidence was higher among patients who are Black compared to patients who are White (IRR: 1.71, 95% CI: 1.48-1.98, P.001), and was impacted by age at diagnosis, with Black-to-White incidence highest in children ages 5-9 years (IRR: 3.43, 95% CI: 2.36-4.94,P.001). […] Overall survival was lower for males (HR: 1.39, 95% CI: 1.07-1.79,P = .013).

• #9 Treatment outcomes for pediatric pineoblastoma: a single institute experience in Taiwan – Kang – Therapeutic Radiology and Oncology

  https://tro.amegroups.org/article/view/4422/html

  The median overall survival was 2.3 years, with 2- and 5-year survival rates of 63.6% and 36.4%, respectively. […] Our results showed survival was associated with age at diagnosis. Long-term survival can be achieved for patients who receive radiotherapy plus chemotherapy. […] Pineoblastomas are a rare malignant tumor, with an estimated incidence of 0.1% of all intracranial tumors, making the development of treatment consensus difficult. […] The survival rate of pediatric patients is markedly worse than adult patients. […] A study that summarized the existing literature of 299 pineoblastoma patients reported a 5-year survival rate of 15% for children younger than 5 years old, compared to 57% for children older than 5 years. […] Residual disease after operation is also an important prognostic factor for patients with pineoblastomas.

• #10 Pineoblastoma – wikidoc

  https://www.wikidoc.org/index.php/Pineoblastoma

  Pineoblastoma constitutes approximately 0.1% of the intracranial neoplasms. […] Pineoblastoma together with germ cell tumors are the most common pineal tumors in children. […] Pineoblastoma is a disease that tends to affect children and young adults. […] Pineoblastoma affects men and women equally.

• #11 Pineal gland masses – UpToDate

  https://www.uptodate.com/contents/pineal-gland-masses

  Pineal tumors account for less than 1 percent of all primary brain tumors. Pineal tumors are more common in children aged 1 to 12 years where these constitute approximately 3 percent of brain tumors. […] Worldwide, pineal tumors are most common in Asian countries, for reasons that are not known. This increased frequency is due largely to an increase in germ cell tumors (GCTs), which compose 70 to 80 percent of all pineal region tumors in Japan and Korea, for example. In the United States, the incidence of intracranial GCTs is highest in individuals with Asian/Pacific Island ancestry in the 10- to 29-year age group, suggesting that underlying genetic susceptibility may play a role in the etiology of these tumors. […] Pineal tumors are substantially more common in males. In an analysis of 633 cases from the Surveillance, Epidemiology, and End Results (SEER) database over a 32-year period, pineal tumors were three times more common in males than females. In those with GCTs, the male predominance was approximately 12:1.

• #12 Internet Scientific Publications

  https://ispub.com/IJTWM/4/2/7376

  Daisy was diagnosed with pineoblastoma, which represents less than 0.1% of all primary brain tumors. […] The rarity of pineoblastoma is reflected in the number of cases reported. Throughout a period of 30 years (1969-1998) the Brain Tumor Registry of Japan recorded only 34 adults, aged 16 to 66 years, with pineoblastoma. […] According to Nomura, the incidence of pineal tumors was higher in Asian countries compared to Western countries. […] Pineoblastomas are primitive and highly malignant tumors exhibiting a fast tempo of progression of the disease. […] Most malignant pineal region tumors have shown poor prognosis. […] Being highly malignant, pineoblastomas have been shown to spread via the cerebrospinal fluid. […] Patients with tumors of the pineal region generally present with headaches and obstructive hydrocephalus.

• #13 Childhood Medulloblastoma and Other CNS Embryonal Tumors (PDQ®) – NCI

  https://www.cancer.gov/types/brain/hp/child-cns-embryonal-treatment-pdq

  The 5-year disease-free survival rate exceeds 50% in children with localized disease at diagnosis who undergo aggressive resection. […] Dissemination at the time of diagnosis occurs in 10% to 30% of patients with pineoblastoma. […] The usual postsurgical treatment for patients with pineoblastoma begins with radiation therapy, although some trials have used preradiation chemotherapy. […] Pineoblastoma is associated with germline pathogenic variants in both the RB1 gene and the DICER1 gene. […] Pineoblastoma can be classified into four distinctive subtypes with unique clinical and molecular characteristics. […] The microRNA (miRNA) processingaltered 1 (PB-miRNA1) and miRNA processingaltered 2 (PB-miRNA2) subtypes are characterized by somatic or germline variants involving microRNA biogenesis genes (DICER1, DROSHA, and DGCR8). […] The PB-MYC/FOXR2 subtype shows MYC activation and FOXR2 overexpression. […] The PB-RB1 subtype has RB1 alterations, and a minority of cases have a clinical diagnosis of trilateral retinoblastoma.

• #14 DNA methylation profiling from cerebrospinal fluid as a diagnostic tool for pineoblastoma | Acta Neuropathologica Communications | Full Text

  https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-025-01960-x

  Indeed based on molecular features, pineoblastomas have been divided into four molecular subtypes with distinct age of onset and prognosis: pineoblastoma, microRNA processing-altered 1; pineoblastoma, microRNA processing-altered 2; pineoblastoma, RB1-altered (pineal retinoblastoma); and pineoblastoma, MYC- and/or FOXR2-activated. […] This case report highlights the integration of two advanced diagnostic approaches DNA methylation profiling and liquid biopsyin the clinical evaluation of a pediatric brain tumor. DNA methylation profiling has become an indispensable tool in neuro-oncology, increasingly incorporated into the diagnostic workflow for CNS tumors. […] Liquid biopsy, particularly the analysis of circulating tumor DNA and cell-free DNA, has also emerged as a promising non-invasive diagnostic strategy.

• #14 DNA methylation profiling from cerebrospinal fluid as a diagnostic tool for pineoblastoma | Acta Neuropathologica Communications | Full Text

  https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-025-01960-x

  In the most recent years, genome-wide DNA methylation profiling has been recognized as a suitable or rather essential diagnostic tool auxiliary to conventional histopathology for many tumor types, especially CNS tumors. […] In these tumors, cerebrospinal fluid (CSF) is the most indicated substrate for DNA source, derived from both cell dissemination as well as cfDNA, due to its direct interaction with brain tumor cells. […] The relevance of DNA methylation profiling in improving differential diagnosis is quite clear in the context of primitive neuroectodermal tumors of the central nervous system (PNET). […] DNA Methylation profiling of PB has allowed for the definition of the molecular identity of these tumors helping to discriminate them from other embryonal CNS tumors and to better clarify intertumoral heterogeneity among PB.

• #14 DNA methylation profiling from cerebrospinal fluid as a diagnostic tool for pineoblastoma | Acta Neuropathologica Communications | Full Text

  https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-025-01960-x

  Recent research has demonstrated the potential of combining DNA methylation profiling with liquid biopsy to enhance tumor characterization. […] This report underscores the utility of this integrated approach, particularly in addressing the diagnostic challenges posed by pediatric brain tumors, and highlights the need for further studies to validate and expand its clinical applicability. […] In our patient initially presenting with a descriptive diagnosis of PNET, DNA methylation analysis of CSF played a pivotal role in achieving an accurate diagnosis of pineoblastoma, effectively overcoming the limitations posed by the absence of FFPE tissue. […] Using a minimal amount of input DNA, methylation profiling classified the tumor within the methylation class family of pineoblastoma with an optimal calibrated score. […] This study underscores the potential of CSF-based DNA methylation profiling as a valuable diagnostic tool, particularly in cases where tissue samples are unavailable, while highlighting the need to account for the specific nuances of liquid biopsy in the diagnostic process.

• #15 Pineoblastoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineoblastoma/

  Pineoblastomas are very rare, making up less than one-half of one percent of all primary brain tumors in the United States. […] Pineoblastomas are most common in children, particularly those under age 10. […] Pineoblastomas are slightly more common in those with certain genetic predispositions, like retinoblastoma. […] Due to pineoblastomas’ aggressive nature and high reoccurrence rate, long-term monitoring with consistent imaging studies is crucial—even after a successful initial treatment. […] Currently, there is no known way to prevent pineoblastomas—they’re extremely rare tumors, and their exact causes are not yet fully understood. […] While there’s no way to prevent pineoblastomas, genetic counseling for at-risk families and early detection in high-risk individuals can be helpful. […] Symptom mindfulness—such as paying special attention to increasing headaches and intracranial pressure, vision problems, or unusual sleep disturbances—can also lead to early diagnosis, improving the odds of successful pineoblastoma treatment.

• #16 Pineoblastoma in Children and Teens – Together by St. Jude™

  https://together.stjude.org/en-us/conditions/cancers/pineoblastoma.html

  Pineoblastoma tumors make up less than 1% of childhood brain tumors. The 5-year survival rate for childhood pineoblastoma ranges from 6785% in the United States, depending on the type. […] Pineoblastoma is classified by metastasis, or spread of disease: M0: The tumor is in 1 place with no sign of spread to other parts of the body. M1: Tumor cells have spread to the cerebrospinal fluid (CSF). M2: The tumor has spread to other parts of the brain. M3: The tumor has spread to the spine. M4: The tumor has spread outside the central nervous system (CNS). […] The prognosis for pineoblastoma depends on many factors. The 5-year survival rate for childhood pineoblastoma ranges from 6785% in the United States, depending on the type, your childs age, and the treatments received.

• #17 Pineoblastoma: Causes, Symptoms, Treatment & Prognosis

  https://my.clevelandclinic.org/health/diseases/24950-pineoblastoma

  Pineoblastoma is very rare. Pineal gland brain tumors account for less than 0.2% of all brain tumors diagnosed in the United States. This type of cancer is most common among children or people younger than 20 years old but it can affect anyone at any age. […] While there isnt a cure available for pineoblastoma, there are several treatment options. […] Yes, some people may survive pineoblastoma. The five-year survival rate for pineoblastoma is 60% to 69.5%. This means that between 60% to nearly 70% of people with the condition are still alive five years later. While pineoblastoma can lead to a shortened life expectancy, treatment is available to help you feel better and help you live longer. […] Your healthcare provider will tell you your prognosis (outlook) after a pineoblastoma diagnosis. While there isnt a cure for pineoblastoma, treatment is available. A persons life expectancy varies based on many factors, like your overall health, how you respond to treatment and the speed of tumor growth.

• #18 Pineoblastoma | The Brain Tumour Charity

  https://www.thebraintumourcharity.org/brain-tumour-diagnosis-treatment/types-brain-tumour-children/pineoblastoma/

  A pineoblastoma is a high grade (cancerous grade 4), fast growing tumour of the pineal region at the centre of the brain. While pineoblastomas can affect anyone, they are mostly diagnosed in people under 20 years old. […] Pineoblastoma is a primary brain tumour, meaning that it starts in the brain as opposed to spreading there. It is a high grade brain tumour grade 4 which means it is cancerous. This type of tumour is rare, with less than 1% of brain tumours forming in the pineal region. […] Although these tumours can occur at any age, they are predominantly diagnosed during the first two decades of life. […] Pineoblastomas are rare brain tumours. But, unfortunately, they are difficult to treat in the people who do develop them. Sadly, less than 10% of the children under the age of four with these brain tumours live for five years or more. However, over 60% of people aged over four years live for five years or more.

• #19 Post-Surgical Prognosis of Patients with Pineoblastoma: A Systematic Review and Individual Patient Data Analysis with Trends over Time

  https://www.mdpi.com/2072-6694/15/13/3374

  Since 2012, the 5-year actuarial OS has improved from 32.8% to 56.1%, which remained significant even after accounting for EOR, age, and adjuvant therapy. […] Pineoblastoma remains a severe rare disease, but survival outcomes are improving. […] Patients in studies published 2012 onwards had a better 5-year OS than did patients in studies published before 2012 (56.1% vs. 32.8%, p < 0.0001). [...] Our analysis also demonstrated an improvement in outcomes since 2012. This improvement is likely driven at least in part by an increase in the proportion of pineoblastoma patients receiving GTR, which was also independently associated with time to mortality.

• #19 Post-Surgical Prognosis of Patients with Pineoblastoma: A Systematic Review and Individual Patient Data Analysis with Trends over Time

  https://www.mdpi.com/2072-6694/15/13/3374

  Pineoblastoma tumors are rare and aggressive tumors of the pineal gland. Due to their rarity, most of the literature on pineoblastoma consists of case reports and single-institution series. […] The last systematic review analyzing prognosis in pineoblastoma was published more than ten years ago and reported an overall survival (OS) of 54% at a mean follow-up of 31 months. […] The goal of this systematic review and individual patient data (IPD) analysis is to collect and reanalyze individual patient-level data in the literature, to summarize the existing literature, identify factors associated with OS, and provide an update on contemporary prognosis in patients with PB. […] This study demonstrates that EOR less-than-gross total resection, metastatic presentation, adjuvant chemotherapy without radiation, and tumor presentation in children less than three years old are associated with poorer prognosis.

• #20 :: BTRT :: Brain Tumor Research and Treatment

  https://btrt.org/DOIx.php?id=10.14791/btrt.2023.0033

  This study aims to elucidate clinical features, therapeutic strategies, and prognosis of pineal parenchymal tumors (PPT) by analyzing a 30-year dataset of a single institution. […] The cohort included 10 patients with pineocytoma (PC), 13 with pineal parenchymal tumor of intermediate differentiation (PPTID), and 20 with pineoblastoma (PB). […] The 5-year progression-free survival rates for PC, grade 2 PPTID, grade 3 PPTID, and PB were 100%, 83.3%, 0%, and 40%, respectively, and the 5-year overall survival rates were 100%, 100%, 40%, and 55%, respectively. […] High-grade tumor histology was associated with lower survival rates. […] Significant prognostic factors varied among tumor types, with World Health Organization (WHO) grade and leptomeningeal seeding (LMS) for PPTID, and the extent of resection and LMS for PB.

• #20 :: BTRT :: Brain Tumor Research and Treatment

  https://btrt.org/DOIx.php?id=10.14791/btrt.2023.0033

  This study underscores the prognostic significance of WHO grades in PPT. […] Potential LMS and malignant transformations necessitate aggressive multimodal treatment and close-interval screening. […] Pineal parenchymal tumors (PPT) are a rare group of tumors originating from pineal parenchymal cells. […] They account for less than 0.5% of central nervous system neoplasms and 20%30% of tumors in the pineal region. […] Pineoblastoma (PB) is a malignant embryonal tumor that is prevalent in children and young adolescents. […] The diagnosis and treatment of PPT pose challenges because of their location within the brain and proximity to deep cerebral veins, which can make surgical removal difficult. […] The difficulty in choosing optimal treatment and predicting prognosis is due to the lack of clear-cut histological criteria and rarity of these tumors.

• #21

  https://link.springer.com/article/10.1007/s00701-019-03909-1

  Paediatric pineoblastomas are rare central nervous system tumours. […] Using the Surveillance, Epidemiology, and End Results (SEER) cancer registry, we investigated clinical and pathological factors associated with outcome in paediatric pineoblastomas. […] This study represents the largest analysis of paediatric pineoblastomas to date. The only clinically relevant prognostic factor was older age at diagnosis. The role of surgery and adjuvant radiotherapy on overall survival remains to be defined.

• #22 Persistent pineoblastoma: Complete response and >26 years overall survival in a ten-month-old female treated with antineoplastons

  https://www.oatext.com/persistent-pineoblastoma-complete-response-and-26-years-overall-survival-in-a-ten-month-old-female-treated-with-antineoplastons.php

  For the years 1990-213, the SEER database included 123 subjects with pediatric pineoblastoma, of which 59 were male (48%) and 64 were female (52%). The median age at diagnosis was 6 years. Seventy-five tumors remained localized (61%), 71 tumors were treated with sub-total resection (58%) and 81 tumors were treated with RT (66%). […] The role of chemotherapy remains to be defined. Prospective evaluation is needed.

• #23 Pediatric Pineoblastoma | Applied Radiology

  https://appliedradiology.com/articles/pediatric-pineoblastoma

  Pineal gland tumors are uncommon, accounting for ~1% of all central nervous system (CNS) tumors in adults and 3% in children. The tumors can be classified into three major categories: germ cell tumors (GCTs), the most common pineal tumors; pineal parenchymal tumors (PPTs), and gliomas. The WHO classification of CNS tumors divides pineal tumors into four groups: pineocytomas (Grade I), pineal parenchymal tumors of intermediate differentiation (Grade II or III), papillary tumor of the pineal region (Grade II or III), and pineoblastoma (Grade IV). […] Highly malignant and aggressive, pineoblastomas are considered primary neuroectodermal tumors (PNETs) of the pineal region. They hold a poor prognosis and can metastasize locally and throughout the neuroaxis. […] Contrast-enhanced magnetic resonance imaging (CEMRI) is the modality of choice for diagnosing pineoblastomas; computed tomography (CT) cannot differentiate between (PPT) and (GCT). On MRI, pineoblastomas are isointense on T1-weighted images and have vivid heterogeneous enhancement compared to GCTs and PPTs, which enhance homogenously. Given the diseases predilection to spread along the neuroaxis, MRI of the brain and spine with and without contrast is important for disease recognition and quantification, and is therefore recommended.

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