Literature DB >> 27471235

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

.   

Abstract

Although inherited hematopoietic malignancies have been reported clinically since the early twentieth century, the molecular basis for these diseases has only recently begun to be elucidated. Growing utilization of next-generation sequencing technologies has facilitated the rapid discovery of an increasing number of recognizable heritable hematopoietic malignancy syndromes while also deepening the field's understanding of the molecular mechanisms that underlie these syndromes. Because individuals with inherited hematopoietic malignancies continue to be underdiagnosed and are increasingly likely to be encountered in clinical practice, clinicians need to have a high index of suspicion and be aware of the described syndromes. Here, we present the methods we use to identify, test, and manage individuals and families suspected of having a hereditary myeloid malignancy syndrome. Finally, we address the areas of ongoing research in the field and encourage clinicians and researchers to contribute and collaborate.
© 2016 by The American Society of Hematology.

Entities:  

Mesh:

Year:  2016        PMID: 27471235      PMCID: PMC5813725          DOI: 10.1182/blood-2016-05-670240

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


  82 in total

1.  Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

Authors:  W J Song; M G Sullivan; R D Legare; S Hutchings; X Tan; D Kufrin; J Ratajczak; I C Resende; C Haworth; R Hock; M Loh; C Felix; D C Roy; L Busque; D Kurnit; C Willman; A M Gewirtz; N A Speck; J H Bushweller; F P Li; K Gardiner; M Poncz; J M Maris; D G Gilliland
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

2.  Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.

Authors:  Anita Villani; Uri Tabori; Joshua Schiffman; Adam Shlien; Joseph Beyene; Harriet Druker; Ana Novokmet; Jonathan Finlay; David Malkin
Journal:  Lancet Oncol       Date:  2011-05-19       Impact factor: 41.316

3.  Clinical effect of point mutations in myelodysplastic syndromes.

Authors:  Rafael Bejar; Kristen Stevenson; Omar Abdel-Wahab; Naomi Galili; Björn Nilsson; Guillermo Garcia-Manero; Hagop Kantarjian; Azra Raza; Ross L Levine; Donna Neuberg; Benjamin L Ebert
Journal:  N Engl J Med       Date:  2011-06-30       Impact factor: 91.245

4.  BAALC and ERG expression levels are associated with outcome and distinct gene and microRNA expression profiles in older patients with de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study.

Authors:  Sebastian Schwind; Guido Marcucci; Kati Maharry; Michael D Radmacher; Krzysztof Mrózek; Kelsi B Holland; Dean Margeson; Heiko Becker; Susan P Whitman; Yue-Zhong Wu; Klaus H Metzeler; Bayard L Powell; Jonathan E Kolitz; Thomas H Carter; Joseph O Moore; Maria R Baer; Andrew J Carroll; Michael A Caligiuri; Richard A Larson; Clara D Bloomfield
Journal:  Blood       Date:  2010-09-14       Impact factor: 22.113

5.  Mutation of CEBPA in familial acute myeloid leukemia.

Authors:  Matthew L Smith; Jamie D Cavenagh; T Andrew Lister; Jude Fitzgibbon
Journal:  N Engl J Med       Date:  2004-12-02       Impact factor: 91.245

Review 6.  Highly penetrant hereditary cancer syndromes.

Authors:  Rebecca Nagy; Kevin Sweet; Charis Eng
Journal:  Oncogene       Date:  2004-08-23       Impact factor: 9.867

7.  Molecular stratification model for prognosis in cytogenetically normal acute myeloid leukemia.

Authors:  Carlos M Santamaría; María C Chillón; Ramón García-Sanz; Cristina Pérez; María D Caballero; Fernando Ramos; Alfonso García de Coca; José M Alonso; Pilar Giraldo; Teresa Bernal; José A Queizán; Juan N Rodriguez; Pascual Fernández-Abellán; Abelardo Bárez; María J Peñarrubia; Ana Balanzategui; María B Vidriales; María E Sarasquete; Miguel Alcoceba; Joaquín Díaz-Mediavilla; Jesús F San Miguel; Marcos Gonzalez
Journal:  Blood       Date:  2009-04-27       Impact factor: 22.113

8.  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

9.  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

10.  IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication.

Authors:  Peter Paschka; Richard F Schlenk; Verena I Gaidzik; Marianne Habdank; Jan Krönke; Lars Bullinger; Daniela Späth; Sabine Kayser; Manuela Zucknick; Katharina Götze; Heinz-A Horst; Ulrich Germing; Hartmut Döhner; Konstanze Döhner
Journal:  J Clin Oncol       Date:  2010-06-21       Impact factor: 50.717

View more
  46 in total

1.  A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia.

Authors:  Jedrzej Wykretowicz; Yeohan Song; Brooke McKnight; Sung Won Choi; John Magenau; Radhika Takiar; Paul El Tomb; David Ginsburg; Dale Bixby; Rami Khoriaty
Journal:  Cancer Genet       Date:  2019-01-09

2.  Accurate germline RUNX1 variant interpretation and its clinical significance.

Authors:  Simone Feurstein; Liying Zhang; Courtney D DiNardo
Journal:  Blood Adv       Date:  2020-12-22

Review 3.  Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel.

Authors:  Theo de Witte; David Bowen; Marie Robin; Luca Malcovati; Dietger Niederwieser; Ibrahim Yakoub-Agha; Ghulam J Mufti; Pierre Fenaux; Guillermo Sanz; Rodrigo Martino; Emilio Paolo Alessandrino; Francesco Onida; Argiris Symeonidis; Jakob Passweg; Guido Kobbe; Arnold Ganser; Uwe Platzbecker; Jürgen Finke; Michel van Gelder; Arjan A van de Loosdrecht; Per Ljungman; Reinhard Stauder; Liisa Volin; H Joachim Deeg; Corey Cutler; Wael Saber; Richard Champlin; Sergio Giralt; Claudio Anasetti; Nicolaus Kröger
Journal:  Blood       Date:  2017-01-17       Impact factor: 22.113

4.  Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.

Authors:  Michael W Drazer; Sabah Kadri; Madina Sukhanova; Sushant A Patil; Allison H West; Simone Feurstein; Dalein A Calderon; Matthew F Jones; Caroline M Weipert; Christopher K Daugherty; Adrián A Ceballos-López; Gordana Raca; Mark W Lingen; Zejuan Li; Jeremy P Segal; Jane E Churpek; Lucy A Godley
Journal:  Blood Adv       Date:  2018-01-23

Review 5.  Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.

Authors:  Hartmut Döhner; Elihu Estey; David Grimwade; Sergio Amadori; Frederick R Appelbaum; Thomas Büchner; Hervé Dombret; Benjamin L Ebert; Pierre Fenaux; Richard A Larson; Ross L Levine; Francesco Lo-Coco; Tomoki Naoe; Dietger Niederwieser; Gert J Ossenkoppele; Miguel Sanz; Jorge Sierra; Martin S Tallman; Hwei-Fang Tien; Andrew H Wei; Bob Löwenberg; Clara D Bloomfield
Journal:  Blood       Date:  2016-11-28       Impact factor: 22.113

6.  Clinical Utility of Next-Generation Sequencing in Acute Myeloid Leukemia.

Authors:  Fei Yang; Tauangtham Anekpuritanang; Richard D Press
Journal:  Mol Diagn Ther       Date:  2020-02       Impact factor: 4.074

7.  Genetic predisposition to MDS: diagnosis and management.

Authors:  Elissa Furutani; Akiko Shimamura
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2019-12-06

Review 8.  Germline Genetic Predisposition to Hematologic Malignancy.

Authors:  Elissa Furutani; Akiko Shimamura
Journal:  J Clin Oncol       Date:  2017-02-13       Impact factor: 44.544

9.  MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.

Authors:  Tim Ripperger; Winfried Hofmann; Jan C Koch; Katayoon Shirneshan; Detlef Haase; Gerald Wulf; Peter R Issing; Matthias Karnebogen; Gunnar Schmidt; Bernd Auber; Brigitte Schlegelberger; Thomas Illig; Birgit Zirn; Doris Steinemann
Journal:  Haematologica       Date:  2017-11-02       Impact factor: 9.941

Review 10.  Targeting multiple signaling pathways: the new approach to acute myeloid leukemia therapy.

Authors:  Jenna L Carter; Katie Hege; Jay Yang; Hasini A Kalpage; Yongwei Su; Holly Edwards; Maik Hüttemann; Jeffrey W Taub; Yubin Ge
Journal:  Signal Transduct Target Ther       Date:  2020-12-18
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.