Literature DB >> 32124011

Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.

Leanne de Kock1, Barbara Rivera2,3,4, William D Foulkes5,6,7,8.   

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Year:  2020        PMID： 32124011     DOI： 10.1007/s00401-020-02139-5

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  10 in total

1.  Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma.

Authors:  Nelly Sabbaghian; Nancy Hamel; Archana Srivastava; Steffen Albrecht; John R Priest; William D Foulkes
Journal:  J Med Genet       Date:  2012-06-20       Impact factor: 6.318

2.  Germ-line and somatic DICER1 mutations in pineoblastoma.

Authors:  Leanne de Kock; Nelly Sabbaghian; Harriet Druker; Evan Weber; Nancy Hamel; Suzanne Miller; Catherine S Choong; Nicholas G Gottardo; Ursula R Kees; Surya P Rednam; Liselotte P van Hest; Marjolijn C Jongmans; Shalini Jhangiani; James R Lupski; Margaret Zacharin; Dorothée Bouron-Dal Soglio; Annie Huang; John R Priest; Arie Perry; Sabine Mueller; Steffen Albrecht; David Malkin; Richard G Grundy; William D Foulkes
Journal:  Acta Neuropathol       Date:  2014-07-15       Impact factor: 17.088

3.  Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a "spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant".

Authors:  Maki Sakaguchi; Yoshiko Nakano; Mai Honda-Kitahara; Masashi Kinoshita; Shingo Tanaka; Masahiro Oishi; Kazuhiro Noguchi; Masaki Fukuda; Hideaki Maeba; Takuya Watanabe; Yutaka Hayashi; Hiroko Ikeda; Hiroshi Minato; Koichi Ichimura; Takayuki Nojima; Mitsutoshi Nakada
Journal:  Brain Tumor Pathol       Date:  2019-09-05       Impact factor: 3.298

4.  Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.

Authors:  Leanne de Kock; Mona K Wu; William D Foulkes
Journal:  Hum Mutat       Date:  2019-08-17       Impact factor: 4.878

5.  Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials.

Authors:  Anthony P Y Liu; Brian Gudenas; Tong Lin; Brent A Orr; Paul Klimo; Rahul Kumar; Eric Bouffet; Sridharan Gururangan; John R Crawford; Stewart J Kellie; Murali Chintagumpala; Michael J Fisher; Daniel C Bowers; Tim Hassall; Daniel J Indelicato; Arzu Onar-Thomas; David W Ellison; Frederick A Boop; Thomas E Merchant; Giles W Robinson; Paul A Northcott; Amar Gajjar
Journal:  Acta Neuropathol       Date:  2019-12-04       Impact factor: 17.088

6.  Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma.

Authors:  Julieann C Lee; Tali Mazor; Richard Lao; Eunice Wan; Alpha B Diallo; Nicholas S Hill; Naina Thangaraj; Katherine Wendelsdorf; David Samuel; Cassie N Kline; Anuradha Banerjee; Kurtis Auguste; Corey Raffel; Nalin Gupta; Mitchel Berger; David R Raleigh; Anny Shai; Joanna J Phillips; Andrew W Bollen; Tarik Tihan; Arie Perry; Joseph Costello; David A Solomon
Journal:  Acta Neuropathol       Date:  2019-03-14       Impact factor: 17.088

7.  Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour.

Authors:  Timothy Blake Palculict; E Cristy Ruteshouser; Yu Fan; Wenyi Wang; Louise Strong; Vicki Huff
Journal:  J Med Genet       Date:  2015-11-13       Impact factor: 6.318

8.  Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study.

Authors:  Bryan K Li; Alexandre Vasiljevic; Christelle Dufour; Fupan Yao; Ben L B Ho; Mei Lu; Eugene I Hwang; Sridharan Gururangan; Jordan R Hansford; Maryam Fouladi; Sumihito Nobusawa; Annie Laquerriere; Marie-Bernadette Delisle; Jason Fangusaro; Fabien Forest; Helen Toledano; Palma Solano-Paez; Sarah Leary; Diane Birks; Lindsey M Hoffman; Alexandru Szathmari; Cécile Faure-Conter; Xing Fan; Daniel Catchpoole; Li Zhou; Kris Ann P Schultz; Koichi Ichimura; Guillaume Gauchotte; Nada Jabado; Chris Jones; Delphine Loussouarn; Karima Mokhtari; Audrey Rousseau; David S Ziegler; Shinya Tanaka; Scott L Pomeroy; Amar Gajjar; Vijay Ramaswamy; Cynthia Hawkins; Richard G Grundy; D Ashley Hill; Eric Bouffet; Annie Huang; Anne Jouvet
Journal:  Acta Neuropathol       Date:  2019-12-09       Impact factor: 17.088

9.  Subclonal diversification of primary breast cancer revealed by multiregion sequencing.

Authors:  Lucy R Yates; Moritz Gerstung; Stian Knappskog; Christine Desmedt; Gunes Gundem; Peter Van Loo; Turid Aas; Ludmil B Alexandrov; Denis Larsimont; Helen Davies; Yilong Li; Young Seok Ju; Manasa Ramakrishna; Hans Kristian Haugland; Peer Kaare Lilleng; Serena Nik-Zainal; Stuart McLaren; Adam Butler; Sancha Martin; Dominic Glodzik; Andrew Menzies; Keiran Raine; Jonathan Hinton; David Jones; Laura J Mudie; Bing Jiang; Delphine Vincent; April Greene-Colozzi; Pierre-Yves Adnet; Aquila Fatima; Marion Maetens; Michail Ignatiadis; Michael R Stratton; Christos Sotiriou; Andrea L Richardson; Per Eystein Lønning; David C Wedge; Peter J Campbell
Journal:  Nat Med       Date:  2015-06-22       Impact factor: 53.440

10.  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.

Authors:  T J Pugh; W Yu; J Yang; A L Field; L Ambrogio; S L Carter; K Cibulskis; P Giannikopoulos; A Kiezun; J Kim; A McKenna; E Nickerson; G Getz; S Hoffher; Y H Messinger; L P Dehner; C W M Roberts; C Rodriguez-Galindo; G M Williams; C T Rossi; M Meyerson; D A Hill
Journal:  Oncogene       Date:  2014-06-09       Impact factor: 9.867
  10 in total
  4 in total

1.  Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors.

Authors:  Eita Uchida; Atsushi Sasaki; Mitsuaki Shirahata; Tomonari Suzuki; Jun-Ichi Adachi; Kazuhiko Mishima; Masanori Yasuda; Takamitsu Fujimaki; Koichi Ichimura; Ryo Nishikawa
Journal:  Brain Tumor Pathol       Date:  2022-01-09       Impact factor: 3.298

2.  DGCR8 and the six hit, three-step model of schwannomatosis.

Authors:  Clara Nogué; Anne-Sophie Chong; Elia Grau; HyeRim Han; Eduard Dorca; Carla Roca; Jose Luis Mosquera; Conxi Lázaro; William D Foulkes; Joan Brunet; Barbara Rivera
Journal:  Acta Neuropathol       Date:  2021-11-25       Impact factor: 17.088

Review 3.  Histopathology and molecular pathology of pediatric pineal parenchymal tumors.

Authors:  Alexandre Vasiljevic
Journal:  Childs Nerv Syst       Date:  2022-08-16       Impact factor: 1.532

4.  Clinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study.

Authors:  Anthony P Y Liu; Bryan K Li; Elke Pfaff; Brian Gudenas; Alexandre Vasiljevic; Brent A Orr; Christelle Dufour; Matija Snuderl; Matthias A Karajannis; Marc K Rosenblum; Eugene I Hwang; Ho-Keung Ng; Jordan R Hansford; Alexandru Szathmari; Cécile Faure-Conter; Thomas E Merchant; Max Levine; Nancy Bouvier; Katja von Hoff; Martin Mynarek; Stefan Rutkowski; Felix Sahm; Marcel Kool; Cynthia Hawkins; Arzu Onar-Thomas; Giles W Robinson; Amar Gajjar; Stefan M Pfister; Eric Bouffet; Paul A Northcott; David T W Jones; Annie Huang
Journal:  Acta Neuropathol       Date:  2021-02-22       Impact factor: 15.887
  4 in total

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