Literature DB >> 28600339

Genetic predisposition to hematologic malignancies: management and surveillance.

Lucy A Godley1,2, Akiko Shimamura3.   

Abstract

As individuals with germ line predisposition to hematologic malignancies are diagnosed with increasing frequency, the need for clinical surveillance has become apparent. Unfortunately, few prospective data are available, so recommendations are based on collective experience and expert consensus. There is general agreement to advocate for expert consultation or referral of patients to centers with expertise in these syndromes, since presentations and disease progression can be subtle, and treatment strategies must be tailored. Here, we summarize and integrate expert consensus recommendations and medical management considerations for the patient newly diagnosed with a leukemia predisposition disorder. Indications to consider additional studies and referral for allogeneic stem cell transplantation are also discussed.
© 2017 by The American Society of Hematology.

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Year:  2017        PMID: 28600339      PMCID: PMC5533201          DOI: 10.1182/blood-2017-02-735290

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


  56 in total

1.  Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

Authors:  Tom Vulliamy; Anna Marrone; Richard Szydlo; Amanda Walne; Philip J Mason; Inderjeet Dokal
Journal:  Nat Genet       Date:  2004-04-18       Impact factor: 38.330

2.  Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Authors:  Michael Y Zhang; Siobán B Keel; Tom Walsh; Ming K Lee; Suleyman Gulsuner; Amanda C Watts; Colin C Pritchard; Stephen J Salipante; Michael R Jeng; Inga Hofmann; David A Williams; Mark D Fleming; Janis L Abkowitz; Mary-Claire King; Akiko Shimamura
Journal:  Haematologica       Date:  2014-09-19       Impact factor: 9.941

Review 3.  Aplastic anemia and clonal evolution: germ line and somatic genetics.

Authors:  Akiko Shimamura
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2016-12-02

Review 4.  Pathophysiology and management of inherited bone marrow failure syndromes.

Authors:  Akiko Shimamura; Blanche P Alter
Journal:  Blood Rev       Date:  2010-04-24       Impact factor: 8.250

5.  Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.

Authors:  Anita Villani; Ari Shore; Jonathan D Wasserman; Derek Stephens; Raymond H Kim; Harriet Druker; Bailey Gallinger; Anne Naumer; Wendy Kohlmann; Ana Novokmet; Uri Tabori; Marta Tijerin; Mary-Louise C Greer; Jonathan L Finlay; Joshua D Schiffman; David Malkin
Journal:  Lancet Oncol       Date:  2016-08-05       Impact factor: 41.316

Review 6.  Li-Fraumeni Syndrome.

Authors:  Hernán Correa
Journal:  J Pediatr Genet       Date:  2016-04-13

7.  Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor.

Authors:  Holger Tönnies; Stefanie Huber; Jörn-Sven Kuhl; Antje Gerlach; Wolfram Ebell; Heidemarie Neitzel
Journal:  Blood       Date:  2003-01-02       Impact factor: 22.113

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.  Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.

Authors:  Sabine Topka; Joseph Vijai; Michael F Walsh; Lauren Jacobs; Ann Maria; Danylo Villano; Pragna Gaddam; Gang Wu; Rose B McGee; Emily Quinn; Hiroto Inaba; Christine Hartford; Ching-Hon Pui; Alberto Pappo; Michael Edmonson; Michael Y Zhang; Polina Stepensky; Peter Steinherz; Kasmintan Schrader; Anne Lincoln; James Bussel; Steve M Lipkin; Yehuda Goldgur; Mira Harit; Zsofia K Stadler; Charles Mullighan; Michael Weintraub; Akiko Shimamura; Jinghui Zhang; James R Downing; Kim E Nichols; Kenneth Offit
Journal:  PLoS Genet       Date:  2015-06-23       Impact factor: 5.917

10.  Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.

Authors:  Federica Melazzini; Flavia Palombo; Alessandra Balduini; Daniela De Rocco; Caterina Marconi; Patrizia Noris; Chiara Gnan; Tommaso Pippucci; Valeria Bozzi; Michela Faleschini; Serena Barozzi; Michael Doubek; Christian A Di Buduo; Katerina Stano Kozubik; Lenka Radova; Giuseppe Loffredo; Sarka Pospisilova; Caterina Alfano; Marco Seri; Carlo L Balduini; Alessandro Pecci; Anna Savoia
Journal:  Haematologica       Date:  2016-06-30       Impact factor: 9.941

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  44 in total

Review 1.  The Emerging Role of Hematopathologists and Molecular Pathologists in Detection, Monitoring, and Management of Myeloid Neoplasms with Germline Predisposition.

Authors:  Rashmi Kanagal-Shamanna
Journal:  Curr Hematol Malig Rep       Date:  2021-05-24       Impact factor: 3.952

Review 2.  Concise Review: Age-Related Clonal Hematopoiesis: Stem Cells Tempting the Devil.

Authors:  Lambert Busque; Manuel Buscarlet; Luigina Mollica; Ross L Levine
Journal:  Stem Cells       Date:  2018-06-08       Impact factor: 6.277

3.  Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders.

Authors:  John M Gansner; Elissa Furutani; Dean R Campagna; Mark D Fleming; Akiko Shimamura
Journal:  Am J Hematol       Date:  2018-09-06       Impact factor: 10.047

4.  Predisposition to hematologic malignancies in patients with xeroderma pigmentosum.

Authors:  Karolyn A Oetjen; Melissa A Levoska; Deborah Tamura; Sawa Ito; Dorothea Douglas; Sikandar G Khan; Katherine R Calvo; Kenneth H Kraemer; John J DiGiovanna
Journal:  Haematologica       Date:  2019-08-22       Impact factor: 9.941

5.  Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.

Authors:  Alain Sarasin; Samuel Quentin; Nathalie Droin; Mourad Sahbatou; Véronique Saada; Nathalie Auger; Yannick Boursin; Philippe Dessen; Anna Raimbault; Vahid Asnafi; Jean-Luc Schmutz; Alain Taïeb; Carlos F M Menck; Filippo Rosselli; Laurianne Drieu La Rochelle; Caroline Robert; Flore Sicre de Fontbrune; Marie Sébert; Thierry Leblanc; Patricia Kannouche; Stéphane De Botton; Eric Solary; Jean Soulier
Journal:  Blood       Date:  2019-03-26       Impact factor: 22.113

6.  A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.

Authors:  Jesse J C Cheah; Anna L Brown; Andreas W Schreiber; Jinghua Feng; Milena Babic; Sarah Moore; Chun-Chun Young; Miriam Fine; Kerry Phillips; Michael Guandalini; Peter Wilson; Nicola Poplawski; Christopher N Hahn; Hamish S Scott
Journal:  Haematologica       Date:  2019-03-28       Impact factor: 9.941

7.  Familial risks of acute myeloid leukemia, myelodysplastic syndromes, and myeloproliferative neoplasms.

Authors:  Amit Sud; Subhayan Chattopadhyay; Hauke Thomsen; Kristina Sundquist; Jan Sundquist; Richard S Houlston; Kari Hemminki
Journal:  Blood       Date:  2018-07-10       Impact factor: 22.113

8.  Donor-derived MDS/AML in families with germline GATA2 mutation.

Authors:  Pallavi Galera; Amy P Hsu; Weixin Wang; Stephenie Droll; Rui Chen; Jason R Schwartz; Jeffery M Klco; Sally Arai; Luke Maese; Christa Zerbe; Mark J Parta; Neal S Young; Steven M Holland; Dennis D Hickstein; Katherine R Calvo
Journal:  Blood       Date:  2018-09-19       Impact factor: 22.113

Review 9.  Genetic predisposition to MDS: clinical features and clonal evolution.

Authors:  Alyssa L Kennedy; Akiko Shimamura
Journal:  Blood       Date:  2019-01-22       Impact factor: 22.113

Review 10.  Transcription factor mutations as a cause of familial myeloid neoplasms.

Authors:  Jane E Churpek; Emery H Bresnick
Journal:  J Clin Invest       Date:  2019-02-01       Impact factor: 14.808

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