Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer

Bainbridge, Matthew N.; Lachance, Daniel H.; Adatto, Phyllis; Morice, F.; Payen, Samuel; McQuinn, Lacey; McGaha, Rebecca; Guerra, Stephanie; Paith, L.; Roth, Katherine G.; Zeng, Dongfeng; Zhang, H.; Yung, Alfred; Weinberger, Jeffrey M.; Colman, Howard; Conrad, Charles A.; Groot, John de; Forman, Arthur D.; Groves, Morris D.; Levin, Victor A.; Loghin, Monica; Puduvalli, Vinay K.; Sawaya, Raymond; Heimberger, Amy B.; Lang, Frederick F.; Levine, Nicholas B.; Tolentino, Lorna; Saunders, Kevin O.; Thach, Tine; Iacono, Donna Dello; Gerson, Stanton L.; Selman, Warren R.; Bambakidis, Nicholas C.; Hart, D.; Miller, James L.; Hoffer, Anita P.; Cohen, Mark L.; Rogers, Lisa; Nock, Charles J.; Fulop, Jordonna; Barrett, Wendi; Shimmel, Kristen; Ostrom, Quinn T.; Vogelbaum, Michael A.; Weil, Robert J.; Ahluwalia, Manmeet; Peereboom, David M.; Staugaitis, Susan M.; Schilero, Cathy; Brewer, Cathy; Smolenski, Kathy; McGraw, Michael; Naska, Theresa; Rosenfeld, Steven S.; Ram, Zvi; Blumenthal, Deborah T.; Bokstein, Felix; Umansky, Félix; Zaaroor, Menashe; Cohen, Andrea J.; Tzuk-Shina, Tzahala; Voldby, B; Laursen, René Johannes; Andersen, Christina; Brennum, Jannick; Henriksen, Michael; Marzouk, Mohamed Akmal; Davis, Michael; Boland, Elizabeth A.; Smith, M.; Eze, Ogechukwu; WAY, MATTHEW; Miedzianowski, N.; Fréchette, M.; Paleologos, Nina A.; Bystrom, G.; Svedberg, Erika; Huggert, S.; Kimdal, Mikael; Sandström, Maria; Brännström, Nikolina; Hayat, Ateequllah; Tihan, Tarık; Zheng, Shichun; Berger, Michael F.; Butowski, Nicholas; Chang, Susan M.; Clarke, Jennifer; Prados, Michael D.; Rice, Terri; Sison, Jennette D.; Kivett, Valerie; Duo, X.; Hansen, Helen M.; Hsuang, George; Lamela, R A; Ramos, Christian G.; Patoka, Joseph S.; Wagenman, K.; Zhou, Mi; Klein, Anat; McGee, Nathan R.; Pfefferle, Jon; Wilson, Charmaine D.; Morris, PG; Hughes, ME; Britt-Williams, M.; Foft, Jessica; Madsen, Jacob; Polony, C.; Zahora, C.; Villano, Janna H.; Engelhard, Herbert H.; Chanock, SJ; Collins, Peter; Elston, Robert C.; Kleihues, Paul; Kruchko, Carol; Petersen, Gloria M.; Plon, Sharon E.; Thompson, Patricia A.; Bondy, Melissa L.; Lau, Ching C.; Scheurer, Michael E.; Armstrong, Georgina; Liu, Y.; Shete, Sanjay; Yu, Robert; Aldape, Ken; Gilbert, Mark R.; Weinberg, Jeffrey S.; Houlston, Richard S.; Hosking, Fay J.; Robertson, Lindsay; Papaemmanuil, Elli; Claus, Elizabeth B.; Barnholtz‐Sloan, Jill S.; Sloan, Andrew E.; Barnett, Gene H.; Devine, Kenneth D.; Wolinsky, Yingli; Lai, Rose; McKean‐Cowdin, Roberta; Il’yasova, Dora; Schildkraut, Joellen M.; Yechezkel, Galit Hirsh; Bruchim, Revital; Aslanov, Lili; Sadetzki, Siegal; Johansen, Christoffer; Kosteljanetz, Michael; Broholm, Helle; Bernstein, Jonine L.; Olson, Sara H.; Schubert, Erica; DeAngelis, Lisa M.; Jenkins, Robert B.; Yang, Peirong; Rynearson, Amanda L.; Andersson, Ulrika; Wibom, Carl; Henriksson, Roger; Melin, Beatrice; Cederquist, Kristina; Aradottir, S.; Borg, Åke; Merrell, Ryan; Lada, P.; Wrensch, Margaret; Wiencke, John K.; Wiemels, Joe; McCoy, Lucie; McCarthy, Bridget J.; Davis, Faith G.

doi:10.1093/neuonc/nou052

Cited by 13 publications

(9 citation statements)

References 49 publications

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“…This could be tested using FISH and TP53 capture-based sequencing approaches for break point identification as in our study. Only a few cases have been reported where genomic structural alterations, usually deletions, cause cancer syndromes [ 32 – 39 ] and one study where a Robertsonian translocation results in a highly increased risk for childhood acute lymphoblastic leukemia with focal chromosome 21 amplification [ 40 ]. We present here a very rare phenomenon of a rearrangement hotspot which can give rise to both somatic rearrangements as well as a germline cancer syndrome.…”

Section: Discussionmentioning

confidence: 99%

TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome

et al. 2015

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Somatic mutations of TP53 are among the most common in cancer and germline mutations of TP53 (usually missense) can cause Li-Fraumeni syndrome (LFS). Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. Using whole-genome sequencing of OS, we found features of TP53 intron 1 rearrangements suggesting a unique mechanism correlated with transcription. Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. We revisited a four-generation LFS family where no TP53 mutation had been identified and found a 445 kb inversion spanning from the TP53 intron 1 towards the centromere. The inversion segregated with tumors in the LFS family. Cancers in this family had loss of heterozygosity, retaining the rearranged allele and resulting in TP53 expression loss. In conclusion, intron 1 rearrangements cause p53-driven malignancies by both germline and somatic mechanisms and provide an important mechanism of TP53 inactivation in LFS, which might in part explain the diagnostic gap of formerly classified “TP53 wild-type” LFS.

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Section: Discussionmentioning

confidence: 99%

TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome

et al. 2015

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“…Primary malignant brain tumors are relatively rare; however, over the last few decades, it has been observed that the incidence rates for brain tumors have been increasing. This increase may be due to improved diagnostic techniques and to changes in tumor coding and classification [2,3].…”

Section: Introductionmentioning

confidence: 99%

Does brain tumor epidemiology differ from place to another? Saudi single tertiary care center experience

Alnaami¹,

Sarhan²,

Alqahtani³

et al. 2018

biomedicalresearch

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Background: Brain tumors are associated with marked disability and mortality. Understanding the patterns and epidemiological characteristics associated with brain tumors can be crucial to their treatment. Objective: To explore the magnitude and epidemiological features of primary brain tumors among patients admitted to Aseer Central Hospital (ACH), Abha City, Saudi Arabia, and to identify different decisions for their management. Methodology: All hospital records of brain tumor patients admitted to ACH from 2015-2017 were reviewed. Collected data included patients' demographic characteristics, clinical findings, histopathological diagnosis, and management. Results: During the aforementioned period, a total of 100 patients with primary brain tumors were admitted to ACH. The most commonly presenting symptoms were headache (72%), vomiting, dizziness, and focal motor deficits (25% for all). Tumor location was mostly at the frontal or parietal lobes. Among those who underwent surgery, meningioma grade I was the most frequently diagnosed (41.7%). The mean surgical time was 4.2 ± 1.6 h. Most patients who underwent surgery at ACH stayed in the intensive care unit anywhere from 1 d or 2-4 d (34% and 40%, respectively). The Glasgow outcome scale scores of most patients (91.7%) indicated that the patients had a good recovery. However, one patient died (1.7%), one was in a persistent vegetative state (1.7%), and three sustained moderate disability (5%). Conclusion: Most patients with brain tumors admitted to ACH undergo surgery. Meningioma grade I is the most commonly encountered brain tumor, and this finding may reflect different epidemiological findings from the internationally accepted concept that glioblastoma multiforme is the most common brain tumor. The most common locations for brain tumors are the frontal and parietal lobes.

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“…The overall incidence of brain tumors has modestly increased during the last few decades [4,5,6]. This tendency has been noticed mainly in benign tumors and it has been attributed to the improvement of diagnostic techniques and to changes in tumor coding and classification [4,6]. …”

Section: Introductionmentioning

confidence: 99%

Epidemiology of Malignant and Non-Malignant Primary Brain Tumors in Jordan

Tamimi

Abdelaziz

et al. 2015

Neuroepidemiology

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Background: There is lack of knowledge on the epidemiological characteristics of brain tumors in Middle Eastern countries. The objective of this study was to study the epidemiological features of primary brain tumors in Jordan. Methods: We conducted a prospective cohort study incorporating data from 16 hospitals in Jordan during a 1 year period (May 1, 2011-April 30, 2012). All primary brain tumors diagnosed in Jordan during the study period were identified. The following parameters were retrieved from patients' files: age, gender, histological type, and location. The demographic data of the country was obtained from the National Department of Statistics. Results: A total of 313 primary brain tumors were identified during the study period. The incidence of primary brain tumors in Jordan among the general population was 5.01 per 100,000 person-years (5.38 in females and 4.65 in males). The incidence in pediatric, adult, and elderly patients was 2.09, 7.29, and 14.38 per 100,000 person-years, respectively. The most common histological types were meningioma (26.2%), glioblastoma (18.9%), astrocytoma (14.1%), and pituitary adenoma (9.3%). Conclusions: The incidence of primary brain tumors in the Jordanian population is relatively low, in part due to the young age of the general population.

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Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer

Cited by 13 publications

References 49 publications

TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome

TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome

Does brain tumor epidemiology differ from place to another? Saudi single tertiary care center experience

Epidemiology of Malignant and Non-Malignant Primary Brain Tumors in Jordan

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