Literature DB >> 29156196

Familial myelodysplastic syndrome/acute myeloid leukemia.

Jane E Churpek1.   

Abstract

A growing number of inherited genetic loci that contribute to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) development in both children as well as adults are rapidly being identified. In recognition of the clinical impact of this emerging field, the World Health Organization, National Comprehensive Cancer Network, and European LeukemiaNet have all added consideration of inherited predisposition to MDS/AML classification and management. Study of these disorders is providing unique insight into the biology of both sporadic and familial MDS/AML. International collaborative efforts to store germline tissue, document family histories, and pool data are essential to progress in diagnosing and treating both hereditary and sporadic forms of MDS/AML.
Copyright © 2017 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  AML; Acute myeloid leukemia; Genetics; Hereditary myeloid malignancy syndromes; Inherited; MDS; Myelodysplastic syndromes; Predisposition

Mesh：

Year:  2017        PMID： 29156196      PMCID： PMC5774636          DOI： 10.1016/j.beha.2017.10.002

Source DB:  PubMed          Journal:  Best Pract Res Clin Haematol        ISSN： 1521-6926            Impact factor:   3.020


  27 in total

1.  Genomic Classification and Prognosis in Acute Myeloid Leukemia.

Authors:  Elli Papaemmanuil; Moritz Gerstung; Hartmut Döhner; Peter J Campbell; Lars Bullinger; Verena I Gaidzik; Peter Paschka; Nicola D Roberts; Nicola E Potter; Michael Heuser; Felicitas Thol; Niccolo Bolli; Gunes Gundem; Peter Van Loo; Inigo Martincorena; Peter Ganly; Laura Mudie; Stuart McLaren; Sarah O'Meara; Keiran Raine; David R Jones; Jon W Teague; Adam P Butler; Mel F Greaves; Arnold Ganser; Konstanze Döhner; Richard F Schlenk
Journal:  N Engl J Med       Date:  2016-06-09       Impact factor: 91.245

2.  Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

Authors:  Siobán B Keel; Angela Scott; Marilyn Sanchez-Bonilla; Phoenix A Ho; Suleyman Gulsuner; Colin C Pritchard; Janis L Abkowitz; Mary-Claire King; Tom Walsh; Akiko Shimamura
Journal:  Haematologica       Date:  2016-07-14       Impact factor: 9.941

3.  How I diagnose and manage individuals at risk for inherited myeloid malignancies.

Authors: 
Journal:  Blood       Date:  2016-07-28       Impact factor: 22.113

4.  Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA.

Authors:  Patrick F Fogarty; Hiroki Yamaguchi; Adrian Wiestner; Gabriela M Baerlocher; Elaine Sloand; Weihua S Zeng; Elizabeth J Read; Peter M Lansdorp; Neal S Young
Journal:  Lancet       Date:  2003-11-15       Impact factor: 79.321

5.  Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation.

Authors:  Josu de la Fuente; Inderjeet Dokal
Journal:  Pediatr Transplant       Date:  2007-09

6.  Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia.

Authors:  Jane E Churpek; Rafael Marquez; Barbara Neistadt; Kimberly Claussen; Ming K Lee; Matthew M Churpek; Dezheng Huo; Howard Weiner; Mekhala Bannerjee; Lucy A Godley; Michelle M Le Beau; Colin C Pritchard; Tom Walsh; Mary-Claire King; Olufunmilayo I Olopade; Richard A Larson
Journal:  Cancer       Date:  2015-12-07       Impact factor: 6.860

7.  Germline Mutations in Predisposition Genes in Pediatric Cancer.

Authors:  Jinghui Zhang; Michael F Walsh; Gang Wu; Kim E Nichols; Michael N Edmonson; Tanja A Gruber; John Easton; Dale Hedges; Xiaotu Ma; Xin Zhou; Donald A Yergeau; Mark R Wilkinson; Bhavin Vadodaria; Xiang Chen; Rose B McGee; Stacy Hines-Dowell; Regina Nuccio; Emily Quinn; Sheila A Shurtleff; Michael Rusch; Aman Patel; Jared B Becksfort; Shuoguo Wang; Meaghann S Weaver; Li Ding; Elaine R Mardis; Richard K Wilson; Amar Gajjar; David W Ellison; Alberto S Pappo; Ching-Hon Pui; James R Downing
Journal:  N Engl J Med       Date:  2015-11-18       Impact factor: 91.245

8.  Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

Authors:  Jane E Churpek; Khateriaa Pyrtel; Krishna-Latha Kanchi; Jin Shao; Daniel Koboldt; Christopher A Miller; Dong Shen; Robert Fulton; Michelle O'Laughlin; Catrina Fronick; Iskra Pusic; Geoffrey L Uy; Evan M Braunstein; Mark Levis; Julie Ross; Kevin Elliott; Sharon Heath; Allan Jiang; Peter Westervelt; John F DiPersio; Daniel C Link; Matthew J Walter; John Welch; Richard Wilson; Timothy J Ley; Lucy A Godley; Timothy A Graubert
Journal:  Blood       Date:  2015-10-22       Impact factor: 22.113

9.  Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Authors:  D Williams Parsons; Angshumoy Roy; Yaping Yang; Tao Wang; Sarah Scollon; Katie Bergstrom; Robin A Kerstein; Stephanie Gutierrez; Andrea K Petersen; Abhishek Bavle; Frank Y Lin; Dolores H López-Terrada; Federico A Monzon; M John Hicks; Karen W Eldin; Norma M Quintanilla; Adekunle M Adesina; Carrie A Mohila; William Whitehead; Andrew Jea; Sanjeev A Vasudevan; Jed G Nuchtern; Uma Ramamurthy; Amy L McGuire; Susan G Hilsenbeck; Jeffrey G Reid; Donna M Muzny; David A Wheeler; Stacey L Berg; Murali M Chintagumpala; Christine M Eng; Richard A Gibbs; Sharon E Plon
Journal:  JAMA Oncol       Date:  2016-05-01       Impact factor: 31.777

10.  Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

Authors:  Colin C Pritchard; Joaquin Mateo; Michael F Walsh; Navonil De Sarkar; Wassim Abida; Himisha Beltran; Andrea Garofalo; Roman Gulati; Suzanne Carreira; Rosalind Eeles; Olivier Elemento; Mark A Rubin; Dan Robinson; Robert Lonigro; Maha Hussain; Arul Chinnaiyan; Jake Vinson; Julie Filipenko; Levi Garraway; Mary-Ellen Taplin; Saud AlDubayan; G Celine Han; Mallory Beightol; Colm Morrissey; Belinda Nghiem; Heather H Cheng; Bruce Montgomery; Tom Walsh; Silvia Casadei; Michael Berger; Liying Zhang; Ahmet Zehir; Joseph Vijai; Howard I Scher; Charles Sawyers; Nikolaus Schultz; Philip W Kantoff; David Solit; Mark Robson; Eliezer M Van Allen; Kenneth Offit; Johann de Bono; Peter S Nelson
Journal:  N Engl J Med       Date:  2016-07-06       Impact factor: 91.245
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  8 in total

Review 1.  Hematological Malignancies in Adults With a Family Predisposition.

Authors:  Tilmann Bochtler; Georg-Martin Haag; Sarah Schott; Matthias Kloor; Alwin Krämer; Carsten Müller-Tidow
Journal:  Dtsch Arztebl Int       Date:  2018-12-14       Impact factor: 5.594

2.  Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.

Authors:  Raffaele Renella; Katelyn Gagne; Ellen Beauchamp; Jonathan Fogel; Aleksej Perlov; Mireia Sola; Thorsten Schlaeger; Inga Hofmann; Akiko Shimamura; Benjamin L Ebert; Klaus Schmitz-Abe; Kyriacos Markianos; Kristi Murphy; Liang Sun; Shira Rockowitz; Piotr Sliz; Dean R Campagna; Timothy A Springer; Christopher Bahl; Suneet Agarwal; Mark D Fleming; David A Williams
Journal:  Am J Hematol       Date:  2021-11-03       Impact factor: 10.047

Review 3.  Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice.

Authors:  Kristen E Schratz; Amy E DeZern
Journal:  Hematol Oncol Clin North Am       Date:  2020-01-06       Impact factor: 3.722

4.  Clonal hematopoiesis in elderly twins: concordance, discordance, and mortality.

Authors:  Jakob Werner Hansen; Dorthe Almind Pedersen; Lisbeth Aagaard Larsen; Simon Husby; Signe Bedsted Clemmensen; Jacob Hjelmborg; Francesco Favero; Joachim Weischenfeldt; Kaare Christensen; Kirsten Grønbæk
Journal:  Blood       Date:  2020-01-23       Impact factor: 25.476

Review 5.  Myelodysplastic syndromes: moving towards personalized management.

Authors:  Eva Hellström-Lindberg; Magnus Tobiasson; Peter Greenberg
Journal:  Haematologica       Date:  2020-05-21       Impact factor: 9.941

Review 6.  Long Non-coding RNAs in Myeloid Malignancies.

Authors:  Alina-Andreea Zimta; Ciprian Tomuleasa; Iman Sahnoune; George A Calin; Ioana Berindan-Neagoe
Journal:  Front Oncol       Date:  2019-10-18       Impact factor: 6.244

7.  Genome-Wide Association Analyses Identify Variants in IRF4 Associated With Acute Myeloid Leukemia and Myelodysplastic Syndrome Susceptibility.

Authors:  Junke Wang; Alyssa I Clay-Gilmour; Ezgi Karaesmen; Abbas Rizvi; Qianqian Zhu; Li Yan; Leah Preus; Song Liu; Yiwen Wang; Elizabeth Griffiths; Daniel O Stram; Loreall Pooler; Xin Sheng; Christopher Haiman; David Van Den Berg; Amy Webb; Guy Brock; Stephen Spellman; Marcelo Pasquini; Philip McCarthy; James Allan; Friedrich Stölzel; Kenan Onel; Theresa Hahn; Lara E Sucheston-Campbell
Journal:  Front Genet       Date:  2021-06-17       Impact factor: 4.599

8.  Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up.

Authors:  Panagiotis Baliakas; Bianca Tesi; Ulla Wartiovaara-Kautto; Asbjørg Stray-Pedersen; Lone Smidstrup Friis; Ingunn Dybedal; Randi Hovland; Kirsi Jahnukainen; Klas Raaschou-Jensen; Per Ljungman; Cecilie F Rustad; Charlotte K Lautrup; Outi Kilpivaara; Astrid Olsnes Kittang; Kirsten Grønbæk; Jörg Cammenga; Eva Hellström-Lindberg; Mette K Andersen
Journal:  Hemasphere       Date:  2019-11-04
  8 in total

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