Familial pineoblastoma

Lesnick, James E.; Chayt, Karen J.; Bruce, Derek A.; Rorke, Lucy B.; Trojanowski, John Q.; Savino, Peter J.; Schatz, Norman J.

doi:10.3171/jns.1985.62.6.0930

Cited by 17 publications

(3 citation statements)

References 13 publications

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“…The mean age of onset is 12.6 years but with a wide range of 1–39 years [12, 26]. PinBs are uncommon tumours, although there is one familial example reported [23, 30]. Due to the rarity of PinB, little is known about their underlying biology and genetics.…”

Section: Introductionmentioning

confidence: 99%

Germ-line and somatic DICER1 mutations in pineoblastoma

et al. 2014

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Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identifed a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour. We set out to establish the prevalence of DICER1 mutations in an opportunistically ascertained series of PinBs. Twenty-one PinB cases were studied: eighteen cases had not undergone previous testing for DICER1 mutations; three patients were known carriers of germ-line DICER1 mutations. The eighteen PinBs were sequenced by Sanger and/or Fluidigm-based next-generation sequencing to identify DICER1 mutations in blood gDNA and/or tumour gDNA. Testing for somatic DICER1 mutations was also conducted on one case with a known germ-line DICER1 mutation. From the eighteen PinBs, we identified four deleterious DICER1 mutations, three of which were germ line in origin, and one for which a germ line versus somatic origin could not be determined; in all four, the second allele was also inactivated leading to complete loss of DICER1 protein. No somatic DICER1 RNase IIIb mutations were identified. One PinB arising in a germ-line DICER1 mutation carrier was found to have LOH. This study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility gene for PinB and demonstrates PinB to be a manifestation of a germ-line DICER1 mutation. The means by which the second allele is inactivated may differ from other DICER1-related tumours.

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Section: Introductionmentioning

confidence: 99%

Germ-line and somatic DICER1 mutations in pineoblastoma

et al. 2014

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“…Of the 2701 articles retrieved in the search, 44 studies with IPD on 298 patients with pineoblastoma were included in the systematic review ( Table 1 ) [ 5 , 6 , 8 , 9 , 10 , 11 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 ]. Figure 1 presents the PRISMA flowchart for this systematic review [ 18 ].…”

Section: Resultsmentioning

confidence: 99%

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

Nandoliya,

Sadagopan,

Thirunavu

et al. 2023

Cancers

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Most of the literature on pineoblastoma consists of case reports and single-institution series. The goal of this systematic review and individual patient data (IPD) analysis was to summarize the existing literature, identify factors associated with overall survival (OS), and provide a contemporary update on prognosis for patients with pineoblastoma. Forty-four studies were identified with 298 patients having IPD. Kaplan–Meier analyses were used to report survival outcomes based on age, tumor metastases, extent of resection (EOR), adjuvant therapy, and publication year. Cox regression was performed to identify independent predictors of time to mortality. Multivariable recursive partitioning analysis was used to identify the most important subgroups associated with mortality. Patients were classified based on publication year before and after the last systematic review on this topic (pre-2012 and 2012 onwards) and compared using univariate and multivariable analyses. 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. 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.

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“… 2 To date, only a limited number of literature reports of PB in adults or pediatric patients have been reported, the majority of which were case studies. 3 – 5 As a result of such an exceedingly low incidence of PBs in the general population, considerable dispute over factors affecting the prognosis and treatment strategies was present. 6 , 7 In addition, the relationship of clinical behaviors between age-related subgroups was not identified.…”

Section: Introductionmentioning

confidence: 99%

<p>Adverse Factors of Treatment Response and Overall Survival in Pediatric and Adult Patients with Pineoblastoma</p>

Huo

Wang

Zhang

et al. 2020

CMAR

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Intracranial pineoblastomas are rare neoplasms with poor prognosis. The aim of this study was to describe the independent prognostic factors and treatment strategies for overall survival in pediatric and adult patients. Methods: Sixty-four patients were surgically treated between January 2012 and December 2018. Results: The series included 37 (57.8%) males and 27 (42.2%) females. Gross total resection was achieved in 41 (64.1%) cases, and the 1-, 3-, and 5-year rates of overall survival were 86.3, 52.3, and 36.6%, respectively. In the pediatric group (n=42), 28 patients (66.7%) were male, with the median, and the mean age was 4 and 6.2±4.7 years, respectively. After a median follow-up of 25.0 months, twenty-six patients (61.9%) died, and the 1-, 3-, and 5-year rates of overall survival were 84.9, 46.4, and 26.7%, respectively. Postoperative radiotherapy (p=0.058) and postoperative chemotherapy (p=0.183) had a positive influence on the increased overall survival. Meanwhile, postoperative radiotherapy combined with chemotherapy following surgery had a positive impact on overall survival (p=0.174, Log rank). In the adult group, the mean overall survival was 67.3±9.3 months (range, 0.8-95.3 months), and the 1-, 3-, and 5-year rates of overall survival were 89.5, 64.4, and 64.4%, respectively. In this group, no statistical association was observed between clinical factors and outcomes. However, patients who received postoperative radiotherapy (60.7 vs 57.6 month, mean survival; p=0.510, Log rank) or chemotherapy (63.0 vs 59.9 month, mean survival; p=0.404, Log rank) had better survival rates compared with those who declined. Conclusion: In the pediatric group, surgery with postoperative radiotherapy and chemotherapy was a favorable factor for overall survival. In the adult group, a positive trend in overall survival was found when patients received radiation and/or chemotherapy following surgery.

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Familial pineoblastoma

Abstract: Two cases of pineoblastoma are presented. One occurred in a 12-year-old girl and the other, 20 months later, in her 43-year-old mother. A possible genetic basis and mutual exposure to an environmental factor responsible for the expression of a tumor gene are postulated in the discussion.

Cited by 17 publications

References 13 publications

Germ-line and somatic DICER1 mutations in pineoblastoma

Germ-line and somatic DICER1 mutations in pineoblastoma

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

<p>Adverse Factors of Treatment Response and Overall Survival in Pediatric and Adult Patients with Pineoblastoma</p>

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