المؤلفون: Washington University School of Medicine, ResourcePath, LLC, University of Cambridge, Emory University, Dana-Farber Cancer Institute, Phoenix Children's Hospital, Allina Health System, University of California, San Francisco, M.D. Anderson Cancer Center, UC Davis Children's Hospital, KK Women's and Children's Hospital, Louisiana State University Health Sciences Center Shreveport, Children's Healthcare of Atlanta, Dayton Children's Hospital, Akron Children's Hospital, Starship Children's Hospital of New Zealand, Beijing Children's Hospital, Bronson Methodist Hospital, Rutgers Cancer Institute of New Jersey, Children's Hospital of Los Angeles (CHLA), Children's Hospital of Philadelphia, Cincinnati Children's Hospital Medical Center (CCHMC), Connecticut Children's Medical Center, Federal Scientific Clinical Centre of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogache, Driscoll Children's Hospital, Hannover Medical School, Jewish General Hospital, Kaiser Permanente, King Faisal Specialist Hospital & Research Center, Kingston Health Sciences Centre (Kingston), Massachusetts General Hospital, McGill University Health Centre/Research Institute of the McGill University Health Centre, National Institutes of Health (NIH), Royal Perth Hospital, Princess Margaret Hospital for Children, Prisma Health-Upstate, Roswell Park Cancer Institute, The Hospital for Sick Children (SickKids), St. Jude Children's Research Hospital, Huntsman Cancer Institute/ University of Utah, University of Virginia, UT Southwestern Medical Center, Ann & Robert H Lurie Children's Hospital of Chicago

المصدر: International Pleuropulmonary Blastoma/DICER1 Registry (for PPB, DICER1 and Associated Conditions)
Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ. DICER1 mutations in familial pleuropulmonary blastoma. Science. 2009 Aug 21;325(5943):965. doi: 10.1126/science.1174334. Epub 2009 Jun 25.
Messinger YH, Stewart DR, Priest JR, Williams GM, Harris AK, Schultz KA, Yang J, Doros L, Rosenberg PS, Hill DA, Dehner LP. Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. Cancer. 2015 Jan 15;121(2):276-85. doi: 10.1002/cncr.29032. Epub 2014 Sep 10.
Vasta LM, McMaster ML, Harney LA, Ling A, Kim J, Harris AK, Carr AG, Damrauer SM, Rader DJ, Kember RL, Kanetsky PA, Nathanson KL, Pyle LC, Greene MH, Schultz KA, Stewart DR; Regeneron Genetics Center (RGC) Research Team. Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors. Cancer Genet. 2020 Oct;248-249:49-56. doi: 10.1016/j.cancergen.2020.10.002. Epub 2020 Oct 24.
Schneider KW, Cost NG, Schultz KAP, Svihovec S, Suttman A. Germline predisposition to genitourinary rhabdomyosarcoma. Transl Androl Urol. 2020 Oct;9(5):2430-2440. doi: 10.21037/tau-20-76.
Bisogno G, Sarnacki S, Stachowicz-Stencel T, Minard Colin V, Ferrari A, Godzinski J, Gauthier Villars M, Bien E, Hameury F, Helfre S, Schneider DT, Reguerre Y, Lopez Almaraz R, Janic D, Cesen M, Kolenova A, Rascon J, Martinova K, Cosnarovici R, Pourtsidis A, Ben Ami T, Roganovic J, Koscielniak E, Schultz KAP, Brecht IB, Orbach D. Pleuropulmonary blastoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatr Blood Cancer. 2021 Jun;68 Suppl 4(Suppl 4):e29045. doi: 10.1002/pbc.29045. Epub 2021 Apr 7.
Kebudi R, Dural O, Bay SB, Gorgun O, Onder S, Bilgic B, Yilmaz I, Iribas A, Arndt CA, Harris AK, Field A, Schultz KAP, Hill DA. Childhood Rhabdomyosarcoma of the Female Genital Tract: Association with Pathogenic DICER1 Variation, Clinicopathological Features, and Outcomes. J Pediatr Adolesc Gynecol. 2021 Aug;34(4):449-453. doi: 10.1016/j.jpag.2021.01.011. Epub 2021 Jan 20.
Golmard L, Vasta LM, Duflos V, Corsini C, Dubois d'Enghien C, McMaster ML, Harney LA, Carr AG, Ling A, Dijoud F, Gauthier A, Miettinen M, Cost NG, Gauthier-Villars M, Orbach D, Irtan S, Haouy S, Schultz KA, Stoppa-Lyonnet D, Coupier I, Stewart DR, Sirvent N. Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome. J Med Genet. 2022 Apr;59(4):346-350. doi: 10.1136/jmedgenet-2020-107434. Epub 2021 Mar 29.
Schneider DT, Orbach D, Ben-Ami T, Bien E, Bisogno G, Brecht IB, Cecchetto G, Ferrari A, Godzinski J, Janic D, Lopez Almaraz R, Pourtsidis A, Roganovic J, Schultz KAP, Stachowicz-Stencel T, Fresneau B. Consensus recommendations from the EXPeRT/PARTNER groups for the diagnosis and therapy of sex cord stromal tumors in children and adolescents. Pediatr Blood Cancer. 2021 Jun;68 Suppl 4:e29017. doi: 10.1002/pbc.29017. Epub 2021 Mar 24.
Caron CP, Turcotte B, Pelland-Marcotte MC, Schultz KAP, Harvey I, Bolduc S. Case - Bilateral and recurrent pediatric cystic nephroma associated with DICER1 mutation. Can Urol Assoc J. 2021 May;15(5):E290-E292. doi: 10.5489/cuaj.6836. No abstract available.
Vasta LM, Khan NE, Higgs CP, Harney LA, Carr AG, Harris AK, Schultz KAP, McMaster ML, Stewart DR. Hematologic indices in individuals with pathogenic germline DICER1 variants. Blood Adv. 2021 Jan 12;5(1):216-223. doi: 10.1182/bloodadvances.2020002651.
Ferguson MJ, Ivanovich J, Stansell P, Vik TA, Helvie AE, Schmitt MR, Schultz KA, Dehner LP, Renbarger JL, Marshall MS. Previously unreported somatic variants in two patients with pleuropulmonary blastoma with metastatic brain recurrence. Pediatr Blood Cancer. 2021 May;68(5):e28825. doi: 10.1002/pbc.28825. Epub 2020 Nov 30. No abstract available.
Dural O, Kebudi R, Yavuz E, Yilmaz I, Buyukkapu Bay S, Schultz KAP, Hill DA. DICER1-Related Embryonal Rhabdomyosarcoma of the Uterine Corpus in a Prepubertal Girl. J Pediatr Adolesc Gynecol. 2020 Apr;33(2):173-176. doi: 10.1016/j.jpag.2019.12.002. Epub 2019 Dec 12.
Gonzalez IA, Mallinger P, Watson D, Harris AK, Messinger YH, Schultz KAP, Field A, Hill DA, Dehner LP. Expression of p53 is significantly associated with recurrence-free survival and overall survival in pleuropulmonary blastoma (PPB): a report from the International Pleuropulmonary Blastoma/DICER1 Registry. Mod Pathol. 2021 Jun;34(6):1104-1115. doi: 10.1038/s41379-021-00735-8. Epub 2021 Feb 26.
Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA. DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies. Clin Cancer Res. 2018 May 15;24(10):2251-2261. doi: 10.1158/1078-0432.CCR-17-3089. Epub 2018 Jan 17.
Schultz KAP, Rednam SP, Kamihara J, Doros L, Achatz MI, Wasserman JD, Diller LR, Brugieres L, Druker H, Schneider KA, McGee RB, Foulkes WD. PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. Clin Cancer Res. 2017 Jun 15;23(12):e76-e82. doi: 10.1158/1078-0432.CCR-17-0629.
Schultz KAP, Stewart DR, Kamihara J, Bauer AJ, Merideth MA, Stratton P, Huryn LA, Harris AK, Doros L, Field A, Carr AG, Dehner LP, Messinger Y, Hill DA. DICER1 Tumor Predisposition. 2014 Apr 24 [updated 2020 Apr 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK196157/
Li BK, Vasiljevic A, Dufour C, Yao F, Ho BLB, Lu M, Hwang EI, Gururangan S, Hansford JR, Fouladi M, Nobusawa S, Laquerriere A, Delisle MB, Fangusaro J, Forest F, Toledano H, Solano-Paez P, Leary S, Birks D, Hoffman LM, Szathmari A, Faure-Conter C, Fan X, Catchpoole D, Zhou L, Schultz KAP, Ichimura K, Gauchotte G, Jabado N, Jones C, Loussouarn D, Mokhtari K, Rousseau A, Ziegler DS, Tanaka S, Pomeroy SL, Gajjar A, Ramaswamy V, Hawkins C, Grundy RG, Hill DA, Bouffet E, Huang A, Jouvet A. Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study. Acta Neuropathol. 2020 Feb;139(2):223-241. doi: 10.1007/s00401-019-02111-y. Epub 2019 Dec 9.
Stewart DR, Best AF, Williams GM, Harney LA, Carr AG, Harris AK, Kratz CP, Dehner LP, Messinger YH, Rosenberg PS, Hill DA, Schultz KAP. Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1. J Clin Oncol. 2019 Mar 10;37(8):668-676. doi: 10.1200/JCO.2018.78.4678. Epub 2019 Feb 4.
Kamihara J, Paulson V, Breen MA, Laetsch TW, Rakheja D, Shulman DS, Schoettler ML, Clinton CM, Ward A, Reidy D, Pinches RS, Weiser DA, Mullen EA, Schienda J, Meyers PA, DuBois SG, Nowak JA, Foulkes WD, Schultz KAP, Janeway KA, Vargas SO, Church AJ. DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor. Mod Pathol. 2020 Oct;33(10):1910-1921. doi: 10.1038/s41379-020-0516-1. Epub 2020 Apr 14.
Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE. Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi: 10.1158/1078-0432.CCR-17-0710.
Kim J, Schultz KAP, Hill DA, Stewart DR. The prevalence of germline DICER1 pathogenic variation in cancer populations. Mol Genet Genomic Med. 2019 Mar;7(3):e555. doi: 10.1002/mgg3.555. Epub 2019 Jan 22.
Nakano Y, Gatell SP, Schultz KAP, Carrillo TM, Fujisaki H, Okada K, Horiike M, Nakamura T, Watanabe Y, Matsusaka Y, Sakamoto H, Fukushima H, Inoue T, Williams GM, Hill DA, Hara J. Successful treatment of metastatic cerebral recurrence of pleuropulmonary blastoma. Pediatr Blood Cancer. 2019 May;66(5):e27628. doi: 10.1002/pbc.27628. Epub 2019 Jan 24.
Bauer AJ, Stewart DR, Kamihara J, Harris AK, Turner J, Shah R, Schneider KW, Schneider K, Carr AG, Harney LA, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA, Schultz KAP. DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies-Response. Clin Cancer Res. 2019 Mar 1;25(5):1689-1690. doi: 10.1158/1078-0432.CCR-18-3495. No abstract available.
Nakano Y, Hasegawa D, Stewart DR, Schultz KAP, Harris AK, Hirato J, Uemura S, Tamura A, Saito A, Kawamura A, Yoshida M, Yamasaki K, Yamashita S, Ushijima T, Kosaka Y, Ichimura K, Dehner LP, Hill DA. Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation. Mod Pathol. 2019 Dec;32(12):1744-1750. doi: 10.1038/s41379-019-0319-4. Epub 2019 Jul 11.
Merideth MA, Harney LA, Vyas N, Bachi A, Carr AG, Hill DA, Dehner LP, Schultz KAP, Stewart DR, Stratton P. Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1. Gynecol Oncol. 2020 Mar;156(3):647-653. doi: 10.1016/j.ygyno.2019.12.037. Epub 2020 Jan 15.
Schultz KAP, Nelson A, Harris AK, Finch M, Field A, Jarzembowski JA, Wilhelm M, Mize W, Kreiger P, Conard K, Walter A, Olson T, Mitchell S, Runco DV, Bechtel A, Klawinski D, Bradfield S, Gettinger K, Stewart DR, Messinger Y, Dehner LP, Ashley Hill D. Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation. Mod Pathol. 2020 Oct;33(10):1922-1929. doi: 10.1038/s41379-020-0558-4. Epub 2020 May 15.
Khan NE, Ling A, Raske ME, Harney LA, Carr AG, Field A, Harris AK, Williams GM, Dehner LP, Messinger YH, Hill DA, Schultz KAP, Stewart DR. Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. Pediatr Nephrol. 2018 Dec;33(12):2281-2288. doi: 10.1007/s00467-018-4040-1. Epub 2018 Sep 3.
Huryn LA, Turriff A, Harney LA, Carr AG, Chevez-Barrios P, Gombos DS, Ram R, Hufnagel RB, Hill DA, Zein WM, Schultz KAP, Bishop R, Stewart DR. DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. Ophthalmology. 2019 Feb;126(2):296-304. doi: 10.1016/j.ophtha.2018.09.038. Epub 2018 Oct 17.
Khan NE, Bauer AJ, Doros L, Schultz KA, Decastro RM, Harney LA, Kase RG, Carr AG, Harris AK, Williams GM, Dehner LP, Messinger YH, Stewart DR. Macrocephaly associated with the DICER1 syndrome. Genet Med. 2017 Feb;19(2):244-248. doi: 10.1038/gim.2016.83. Epub 2016 Jul 21.
Dehner LP, Hill DA, Stewart DR, Schultz KAP. Reply: pleuropulmonary blastoma-like peritoneal sarcoma and DICER1-associated sarcomas: toward a unified nomenclature. Mod Pathol. 2021 Jun;34(6):1229-1230. doi: 10.1038/s41379-021-00810-0. Epub 2021 Apr 19. No abstract available.
Mirshahi UL, Kim J, Best AF, Chen ZE, Hu Y, Haley JS, Golden A, Stahl R, Manickam K, Carr AG, Harney LA, Field A, Hatton J, Schultz KAP, Bauer AJ, Hill DA, Rosenberg PS, Murray MF, Carey DJ, Stewart DR. A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype. JAMA Netw Open. 2021 Feb 1;4(2):e210112. doi: 10.1001/jamanetworkopen.2021.0112.
Gonzalez IA, Stewart DR, Schultz KAP, Field AP, Hill DA, Dehner LP. DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma. Mod Pathol. 2022 Jan;35(1):4-22. doi: 10.1038/s41379-021-00905-8. Epub 2021 Oct 1.
Terry W, Carlisle EM, Mallinger P, Nelson AT, Gordon D, Messinger YH, Field A, Dehner LP, Hill DA, Schultz KAP. Thoracic Sertoli-Leydig cell tumor: An alternative type of pleuropulmonary blastoma associated with DICER1 variation. Pediatr Blood Cancer. 2021 Nov;68(11):e29284. doi: 10.1002/pbc.29284. Epub 2021 Aug 16.

المؤلفون: Memorial Sloan Kettering Cancer Center, National Cancer Institute (NCI), American Lebanese Syrian Associated Charities

المصدر: CSF Cell-free Tumor DNA (CSF CfDNA) Liquid Biopsies for Pediatric, Adolescent, and Young Adult Patients with Primary Brain Tumors

المصدر: Observational Study for Assessing Treatment and Outcome of Patients With Primary Brain Tumours Diagnosed According to cIMPACT-NOW Recommendations and the 2021 WHO Classification

المساهمون: Colleen Annesley, Medical Director, Immunotherapy

المصدر: Phase 1 Study of B7-H3-Specific CAR T Cell Locoregional Immunotherapy for Diffuse Intrinsic Pontine Glioma/Diffuse Midline Glioma and Recurrent or Refractory Pediatric Central Nervous System Tumors
Golubovskaya V. CAR-T Cells Targeting Immune Checkpoint Pathway Players. Front Biosci (Landmark Ed). 2022 Apr 2;27(4):121. doi: 10.31083/j.fbl2704121.

المساهمون: Colleen Annesley, Medical Director, Immunotherapy

المصدر: Phase 1 Study of HER2-Specific CAR T Cell Locoregional Immunotherapy for HER2 Positive Recurrent/Refractory Pediatric Central Nervous System Tumors
Vitanza NA, Johnson AJ, Wilson AL, Brown C, Yokoyama JK, Kunkele A, Chang CA, Rawlings-Rhea S, Huang W, Seidel K, Albert CM, Pinto N, Gust J, Finn LS, Ojemann JG, Wright J, Orentas RJ, Baldwin M, Gardner RA, Jensen MC, Park JR. Locoregional infusion of HER2-specific CAR T cells in children and young adults with recurrent or refractory CNS tumors: an interim analysis. Nat Med. 2021 Sep;27(9):1544-1552. doi: 10.1038/s41591-021-01404-8. Epub 2021 Jul 12.

المساهمون: Colleen Annesley, Medical Director, Seattle Children's Therapeutics

المصدر: Phase 1 Study of EGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric Central Nervous System Tumors

المصدر: An Open Label, Phase 1b Safety, Dose-finding, Brain Tumor Delivery, and Pharmacokinetics Study of Intranasal NEO100 in Patients with Pediatric-type Select Brain Tumors

المؤلفون: National Cancer Institute (NCI)

المصدر: A Pilot Study of StrataXRT, a Topical Silicone Barrier, to Prevent Auricular Radiation Dermatitis in Pediatric Patients Undergoing Proton Cerebrospinal Radiation Therapy

المصدر: Immunotherapy for Malignant Pediatric Brain Tumors Employing Adoptive Cellular Therapy (IMPACT)

المصدر: The Evolution of Safety and Efficacy of Neuroendoscopy Guided by Head-mounted Mixed Reality Technique Navigation System for Tumor Resection in Pineal Region and Brainstem: A Prospective, Randomized, Parallel-controlled Clinical Study

المؤلفون: Novartis Pharmaceuticals

المصدر: Molecularly-Driven Doublet Therapy for All Children With Refractory or Recurrent CNS Malignant Neoplasms and Young Adults With Refractory or Recurrent SHH Medulloblastoma

المؤلفون: National Institutes of Health (NIH)

المصدر: A First-in-human Phase I Single-agent Dose-escalation, Food Effect and Dose Expansion Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms
Nguyen TTT, Shang E, Schiffgens S, Torrini C, Shu C, Akman HO, Prabhu VV, Allen JE, Westhoff MA, Karpel-Massler G, Siegelin MD. Induction of Synthetic Lethality by Activation of Mitochondrial ClpP and Inhibition of HDAC1/2 in Glioblastoma. Clin Cancer Res. 2022 May 2;28(9):1881-1895. doi: 10.1158/1078-0432.CCR-21-2857.

المصدر: Pilot Study of High-Dose Chemotherapy With Busulfan, Melphalan, and Topotecan Followed by Autologous Hematopoietic Stem Cell Transplant in Advanced Stage and Recurrent Tumors

المصدر: Phase I Pilot Study of Stereotaxic Radiosurgery in Patients With Intracranial Neoplasms

المصدر: A Phase 1 Study of Entinostat, an Oral Histone Deacetylase Inhibitor, in Pediatric Patients With Recurrent or Refractory Solid Tumors, Including CNS Tumors and Lymphoma

المصدر: A Phase 1/2 Study of AZD1775 (MK-1775) in Combination With Oral Irinotecan in Children, Adolescents, and Young Adults With Relapsed or Refractory Solid Tumors

المساهمون: Mohamed Ahmed Ibrahim Alghriany, Assistan lecturer of Neurosurgery

المصدر: Role of Surgery in Management of Pineal Region Tumors in Children
Choudhry O, Gupta G, Prestigiacomo CJ. On the surgery of the seat of the soul: the pineal gland and the history of its surgical approaches. Neurosurg Clin N Am. 2011 Jul;22(3):321-33, vii. doi: 10.1016/j.nec.2011.04.001.
Li Y, Zhao G, Wang H, Zhu W, Qu L, Li Y, Yu J. Use of 3D-computed tomography angiography for planning the surgical removal of pineal region meningiomas using Poppen's approach: a report of ten cases and a literature review. World J Surg Oncol. 2011 Jun 15;9:64. doi: 10.1186/1477-7819-9-64.
Blakeley JO, Grossman SA. Management of pineal region tumors. Curr Treat Options Oncol. 2006 Nov;7(6):505-16. doi: 10.1007/s11864-006-0025-6.
Mottolese C, Szathmari A, Beuriat PA. Incidence of pineal tumours. A review of the literature. Neurochirurgie. 2015 Apr-Jun;61(2-3):65-9. doi: 10.1016/j.neuchi.2014.01.005. Epub 2014 Aug 10.
Mori Y, Kobayashi T, Hasegawa T, Yoshida K, Kida Y. Stereotactic radiosurgery for pineal and related tumors. Prog Neurol Surg. 2009;23:106-118. doi: 10.1159/000210057. Epub 2009 Mar 23.
Wang P, Mao Q, Wang W, Zhou LX, Liu YH. Gamma knife surgery for pineal region tumors: an alternative strategy for negative pathology. Arq Neuropsiquiatr. 2014 Feb;72(2):129-35. doi: 10.1590/0004-282X20130217.
Behari S, Garg P, Jaiswal S, Nair A, Naval R, Jaiswal AK. Major surgical approaches to the posterior third ventricular region: A pictorial review. J Pediatr Neurosci. 2010 Jul;5(2):97-101. doi: 10.4103/1817-1745.76093. No abstract available.
Poppen JL. The right occipital approach to a pinealoma. J Neurosurg. 1966 Dec;25(6):706-10. doi: 10.3171/jns.1966.25.6.0706. No abstract available.
Dandy WE. EXTIRPATION OF THE PINEAL BODY. J Exp Med. 1915 Aug 1;22(2):237-46. doi: 10.1084/jem.22.2.237.
Morgenstern PF, Souweidane MM. Pineal region tumors: simultaneous endoscopic third ventriculostomy and tumor biopsy. World Neurosurg. 2013 Feb;79(2 Suppl):S18.e9-13. doi: 10.1016/j.wneu.2012.02.020. Epub 2012 Feb 10.
Masina R, Ansaripour A, Benes V, Berhouma M, Choque-Velasquez J, Eide PK, Fedorko S, Fleck S, Hernesniemi J, Koziarski A, Majovsky M, Podgorski A, Schroeder H, Teo C, Unterberg AW, Yeung JT, Kolias A, Santarius T. Surgical treatment of symptomatic pineal cysts without hydrocephalus-meta-analysis of the published literature. Acta Neurochir (Wien). 2022 Jan;164(1):61-77. doi: 10.1007/s00701-021-05054-0. Epub 2021 Dec 2.

المساهمون: Ashley Hill, MD, Professor of Pathology

المصدر: Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome
Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA. DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies. Clin Cancer Res. 2018 May 15;24(10):2251-2261. doi: 10.1158/1078-0432.CCR-17-3089. Epub 2018 Jan 17.
Schultz KAP, Harris AK, Finch M, Dehner LP, Brown JB, Gershenson DM, Young RH, Field A, Yu W, Turner J, Cost NG, Schneider DT, Stewart DR, Frazier AL, Messinger Y, Hill DA. DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry. Gynecol Oncol. 2017 Dec;147(3):521-527. doi: 10.1016/j.ygyno.2017.09.034. Epub 2017 Oct 14.
Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ. DICER1 mutations in familial pleuropulmonary blastoma. Science. 2009 Aug 21;325(5943):965. doi: 10.1126/science.1174334. Epub 2009 Jun 25.
Pugh TJ, Yu W, Yang J, Field AL, Ambrogio L, Carter SL, Cibulskis K, Giannikopoulos P, Kiezun A, Kim J, McKenna A, Nickerson E, Getz G, Hoffher S, Messinger YH, Dehner LP, Roberts CW, Rodriguez-Galindo C, Williams GM, Rossi CT, Meyerson M, Hill DA. Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. Oncogene. 2014 Nov 6;33(45):5295-302. doi: 10.1038/onc.2014.150. Epub 2014 Jun 9.
Schultz KA, Harris A, Williams GM, Baldinger S, Doros L, Valusek P, Frazier AL, Dehner LP, Messinger Y, Hill DA. Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma. Pediatr Blood Cancer. 2014 Sep;61(9):1695-7. doi: 10.1002/pbc.25092. Epub 2014 May 13.
Doros LA, Rossi CT, Yang J, Field A, Williams GM, Messinger Y, Cajaiba MM, Perlman EJ, A Schultz K, Cathro HP, Legallo RD, LaFortune KA, Chikwava KR, Faria P, Geller JI, Dome JS, Mullen EA, Gratias EJ, Dehner LP, Hill DA. DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma. Mod Pathol. 2014 Sep;27(9):1267-80. doi: 10.1038/modpathol.2013.242. Epub 2014 Jan 31.
Stewart DR, Messinger Y, Williams GM, Yang J, Field A, Schultz KA, Harney LA, Doros LA, Dehner LP, Hill DA. Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder. Hum Genet. 2014 Nov;133(11):1443-50. doi: 10.1007/s00439-014-1474-9. Epub 2014 Aug 14.
Schultz KA, Yang J, Doros L, Williams GM, Harris A, Stewart DR, Messinger Y, Field A, Dehner LP, Hill DA. DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. Pathol Case Rev. 2014 Mar;19(2):90-100. doi: 10.1097/PCR.0000000000000027.
Messinger YH, Stewart DR, Priest JR, Williams GM, Harris AK, Schultz KA, Yang J, Doros L, Rosenberg PS, Hill DA, Dehner LP. Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. Cancer. 2015 Jan 15;121(2):276-85. doi: 10.1002/cncr.29032. Epub 2014 Sep 10.
Rutter MM, Jha P, Schultz KA, Sheil A, Harris AK, Bauer AJ, Field AL, Geller J, Hill DA. DICER1 Mutations and Differentiated Thyroid Carcinoma: Evidence of a Direct Association. J Clin Endocrinol Metab. 2016 Jan;101(1):1-5. doi: 10.1210/jc.2015-2169. Epub 2015 Nov 10.
Khan NE, Bauer AJ, Schultz KAP, Doros L, Decastro RM, Ling A, Lodish MB, Harney LA, Kase RG, Carr AG, Rossi CT, Field A, Harris AK, Williams GM, Dehner LP, Messinger YH, Hill DA, Stewart DR. Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. J Clin Endocrinol Metab. 2017 May 1;102(5):1614-1622. doi: 10.1210/jc.2016-2954.
Kim J, Field A, Schultz KAP, Hill DA, Stewart DR. The prevalence of DICER1 pathogenic variation in population databases. Int J Cancer. 2017 Nov 15;141(10):2030-2036. doi: 10.1002/ijc.30907. Epub 2017 Aug 21.
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Brenneman M, Field A, Yang J, Williams G, Doros L, Rossi C, Schultz KA, Rosenberg A, Ivanovich J, Turner J, Gordish-Dressman H, Stewart D, Yu W, Harris A, Schoettler P, Goodfellow P, Dehner L, Messinger Y, Hill DA. Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. F1000Res. 2015 Jul 10;4:214. doi: 10.12688/f1000research.6746.2. eCollection 2015.

المؤلفون: M.D. Anderson Cancer Center, National Cancer Institute (NCI)

المساهمون: Torunn Yock, MD, Director, Pediatric Radiation Oncology

المصدر: Proton Beam Radiotherapy for Medulloblastoma and Pineoblastoma: An Assessment of Acute Toxicity and Long Term Neurocognitive, Neuroendocrine and Ototoxicity Outcomes
Vatner RE, Niemierko A, Misra M, Weyman EA, Goebel CP, Ebb DH, Jones RM, Huang MS, Mahajan A, Grosshans DR, Paulino AC, Stanley T, MacDonald SM, Tarbell NJ, Yock TI. Endocrine Deficiency As a Function of Radiation Dose to the Hypothalamus and Pituitary in Pediatric and Young Adult Patients With Brain Tumors. J Clin Oncol. 2018 Oct 1;36(28):2854-2862. doi: 10.1200/JCO.2018.78.1492. Epub 2018 Aug 17.

المصدر: A Feasibility Study of Vorinostat (SAHA) Combined With Isotretinoin and Chemotherapy in Infants With Embryonal Tumors of the Central Nervous System