Literature DB >> 30877433

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

Julieann C Lee1, Tali Mazor2,3, Richard Lao4, Eunice Wan4, Alpha B Diallo5, Nicholas S Hill5, Naina Thangaraj5, Katherine Wendelsdorf5, David Samuel6, Cassie N Kline7, Anuradha Banerjee7, Kurtis Auguste2, Corey Raffel2, Nalin Gupta2, Mitchel Berger2, David R Raleigh2,8, Anny Shai2, Joanna J Phillips1,2, Andrew W Bollen1, Tarik Tihan1, Arie Perry1,2, Joseph Costello2, David A Solomon9.   

Abstract

Entities:  

Year:  2019        PMID： 30877433      PMCID： PMC6483828          DOI： 10.1007/s00401-019-01990-5

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


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  7 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.  Parenchymal pineal tumors: a clinicopathological study of 76 cases.

Authors:  F Fauchon; A Jouvet; P Paquis; G Saint-Pierre; C Mottolese; M Ben Hassel; L Chauveinc; J P Sichez; J Philippon; M Schlienger; E Bouffet
Journal:  Int J Radiat Oncol Biol Phys       Date:  2000-03-01       Impact factor: 7.038

3.  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

4.  Histopathologic review of pineal parenchymal tumors identifies novel morphologic subtypes and prognostic factors for outcome.

Authors:  David R Raleigh; David A Solomon; Shane A Lloyd; Ann Lazar; Michael A Garcia; Penny K Sneed; Jennifer L Clarke; Michael W McDermott; Mitchel S Berger; Tarik Tihan; Daphne A Haas-Kogan
Journal:  Neuro Oncol       Date:  2016-06-09       Impact factor: 12.300

5.  Structural basis for Cul3 protein assembly with the BTB-Kelch family of E3 ubiquitin ligases.

Authors:  Peter Canning; Christopher D O Cooper; Tobias Krojer; James W Murray; Ashley C W Pike; Apirat Chaikuad; Tracy Keates; Chancievan Thangaratnarajah; Viktorija Hojzan; Vikram Ayinampudi; Brian D Marsden; Opher Gileadi; Stefan Knapp; Frank von Delft; Alex N Bullock
Journal:  J Biol Chem       Date:  2013-01-24       Impact factor: 5.157

6.  The whole-genome landscape of medulloblastoma subtypes.

Authors:  Paul A Northcott; Ivo Buchhalter; A Sorana Morrissy; Volker Hovestadt; Joachim Weischenfeldt; Tobias Ehrenberger; Susanne Gröbner; Maia Segura-Wang; Thomas Zichner; Vasilisa A Rudneva; Hans-Jörg Warnatz; Nikos Sidiropoulos; Aaron H Phillips; Steven Schumacher; Kortine Kleinheinz; Sebastian M Waszak; Serap Erkek; David T W Jones; Barbara C Worst; Marcel Kool; Marc Zapatka; Natalie Jäger; Lukas Chavez; Barbara Hutter; Matthias Bieg; Nagarajan Paramasivam; Michael Heinold; Zuguang Gu; Naveed Ishaque; Christina Jäger-Schmidt; Charles D Imbusch; Alke Jugold; Daniel Hübschmann; Thomas Risch; Vyacheslav Amstislavskiy; Francisco German Rodriguez Gonzalez; Ursula D Weber; Stephan Wolf; Giles W Robinson; Xin Zhou; Gang Wu; David Finkelstein; Yanling Liu; Florence M G Cavalli; Betty Luu; Vijay Ramaswamy; Xiaochong Wu; Jan Koster; Marina Ryzhova; Yoon-Jae Cho; Scott L Pomeroy; Christel Herold-Mende; Martin Schuhmann; Martin Ebinger; Linda M Liau; Jaume Mora; Roger E McLendon; Nada Jabado; Toshihiro Kumabe; Eric Chuah; Yussanne Ma; Richard A Moore; Andrew J Mungall; Karen L Mungall; Nina Thiessen; Kane Tse; Tina Wong; Steven J M Jones; Olaf Witt; Till Milde; Andreas Von Deimling; David Capper; Andrey Korshunov; Marie-Laure Yaspo; Richard Kriwacki; Amar Gajjar; Jinghui Zhang; Rameen Beroukhim; Ernest Fraenkel; Jan O Korbel; Benedikt Brors; Matthias Schlesner; Roland Eils; Marco A Marra; Stefan M Pfister; Michael D Taylor; Peter Lichter
Journal:  Nature       Date:  2017-07-19       Impact factor: 49.962

7.  Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.

Authors:  Matija Snuderl; Kasthuri Kannan; Elke Pfaff; Shiyang Wang; James M Stafford; Jonathan Serrano; Adriana Heguy; Karina Ray; Arline Faustin; Olga Aminova; Igor Dolgalev; Stacie L Stapleton; David Zagzag; Luis Chiriboga; Sharon L Gardner; Jeffrey H Wisoff; John G Golfinos; David Capper; Volker Hovestadt; Marc K Rosenblum; Dimitris G Placantonakis; Sarah E LeBoeuf; Thales Y Papagiannakopoulos; Lukas Chavez; Sama Ahsan; Charles G Eberhart; Stefan M Pfister; David T W Jones; Matthias A Karajannis
Journal:  Nat Commun       Date:  2018-07-20       Impact factor: 14.919
  7 in total
  17 in total

1.  Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations.

Authors:  Elke Pfaff; Christian Aichmüller; Martin Sill; Damian Stichel; Matija Snuderl; Matthias A Karajannis; Martin U Schuhmann; Jens Schittenhelm; Martin Hasselblatt; Christian Thomas; Andrey Korshunov; Marina Rhizova; Andrea Wittmann; Anna Kaufhold; Murat Iskar; Petra Ketteler; Dietmar Lohmann; Brent A Orr; David W Ellison; Katja von Hoff; Martin Mynarek; Stefan Rutkowski; Felix Sahm; Andreas von Deimling; Peter Lichter; Marcel Kool; Marc Zapatka; Stefan M Pfister; David T W Jones
Journal:  Acta Neuropathol       Date:  2019-11-25       Impact factor: 17.088

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

Authors:  Leanne de Kock; Barbara Rivera; William D Foulkes
Journal:  Acta Neuropathol       Date:  2020-03-02       Impact factor: 17.088

Review 3.  Pineal parenchymal tumor of intermediate differentiation: a systematic review and contemporary management of 389 cases reported during the last two decades.

Authors:  Hajime Takase; Reo Tanoshima; Navneet Singla; Yoshihiko Nakamura; Tetsuya Yamamoto
Journal:  Neurosurg Rev       Date:  2021-10-20       Impact factor: 3.042

4.  DICER1 syndrome in a young adult with pituitary blastoma.

Authors:  Anne-Sophie Chong; HyeRim Han; Steffen Albrecht; Young Cheol Weon; Sang Kyu Park; William D Foulkes
Journal:  Acta Neuropathol       Date:  2021-10-22       Impact factor: 17.088

Review 5.  Histopathology and molecular pathology of pediatric pineal parenchymal tumors.

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

Review 6.  Pineal Gland Tumor Microenvironment.

Authors:  Joham Choque-Velasquez; Szymon Baluszek; Roberto Colasanti; Sajjad Muhammad; Juha Hernesniemi
Journal:  Adv Exp Med Biol       Date:  2020       Impact factor: 2.622

7.  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

8.  Pineal parenchymal tumor of intermediate differentiation: a single-institution experience.

Authors:  Joo Yeon Nam; Andrea Gilbert; David Cachia; Jacob Mandel; Gregory N Fuller; Marta Penas-Prado; John de Groot; Carlos Kamiya-Matsuoka
Journal:  Neurooncol Pract       Date:  2020-05-12

Review 9.  Medulloblastomics revisited: biological and clinical insights from thousands of patients.

Authors:  Volker Hovestadt; Olivier Ayrault; Fredrik J Swartling; Giles W Robinson; Stefan M Pfister; Paul A Northcott
Journal:  Nat Rev Cancer       Date:  2019-12-09       Impact factor: 69.800

Review 10.  The 2021 WHO Classification of Tumors of the Central Nervous System: a summary.

Authors:  David N Louis; Arie Perry; Pieter Wesseling; Daniel J Brat; Ian A Cree; Dominique Figarella-Branger; Cynthia Hawkins; H K Ng; Stefan M Pfister; Guido Reifenberger; Riccardo Soffietti; Andreas von Deimling; David W Ellison
Journal:  Neuro Oncol       Date:  2021-08-02       Impact factor: 13.029
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