Literature DB >> 34889377

Mechanisms of somatic transformation in inherited bone marrow failure syndromes.

Haruna Batzorig Choijilsuren1,2, Yeji Park1, Moonjung Jung1.   

Abstract

Inherited bone marrow failure syndromes (IBMFS) cause hematopoietic stem progenitor cell (HSPC) failure due to germline mutations. Germline mutations influence the number and fitness of HSPC by various mechanisms, for example, abnormal ribosome biogenesis in Shwachman-Diamond syndrome and Diamond-Blackfan anemia, unresolved DNA cross-links in Fanconi anemia, neutrophil maturation arrest in severe congenital neutropenia, and telomere shortening in short telomere syndrome. To compensate for HSPC attrition, HSPCs are under increased replication stress to meet the need for mature blood cells. Somatic alterations that provide full or partial recovery of functional deficit implicated in IBMFS can confer a growth advantage. This review discusses results of recent genomic studies and illustrates our new understanding of mechanisms of clonal evolution in IBMFS.
Copyright © 2021 by The American Society of Hematology.

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Mesh：

Year:  2021        PMID： 34889377      PMCID： PMC8791168          DOI： 10.1182/hematology.2021000271

Source DB:  PubMed          Journal:  Hematology Am Soc Hematol Educ Program        ISSN： 1520-4383


  47 in total

1.  Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy.

Authors:  Philip S Rosenberg; Cornelia Zeidler; Audrey A Bolyard; Blanche P Alter; Mary A Bonilla; Laurence A Boxer; Yigal Dror; Sally Kinsey; Daniel C Link; Peter E Newburger; Akiko Shimamura; Karl Welte; David C Dale
Journal:  Br J Haematol       Date:  2010-04-29       Impact factor: 6.998

2.  Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Authors:  Marjolijn C J Jongmans; Eugene T P Verwiel; Yvonne Heijdra; Tom Vulliamy; Eveline J Kamping; Jayne Y Hehir-Kwa; Ernie M H F Bongers; Rolph Pfundt; Liesbeth van Emst; Frank N van Leeuwen; Koen L I van Gassen; Ad Geurts van Kessel; Inderjeet Dokal; Nicoline Hoogerbrugge; Marjolijn J L Ligtenberg; Roland P Kuiper
Journal:  Am J Hum Genet       Date:  2012-02-16       Impact factor: 11.025

3.  Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations.

Authors:  Lindley Maryoung; Yangbo Yue; Ashley Young; Chad A Newton; Cindy Barba; Nicolai S C van Oers; Richard C Wang; Christine Kim Garcia
Journal:  J Clin Invest       Date:  2017-02-13       Impact factor: 14.808

4.  Telomerase and DNA end replication: no longer a lagging strand problem?

Authors:  J Lingner; J P Cooper; T R Cech
Journal:  Science       Date:  1995-09-15       Impact factor: 47.728

5.  Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: morphologic and cytogenetic characteristics.

Authors:  Adina M Cioc; John E Wagner; Margaret L MacMillan; Todd DeFor; Betsy Hirsch
Journal:  Am J Clin Pathol       Date:  2010-01       Impact factor: 2.493

6.  Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

Authors:  J J Gregory; J E Wagner; P C Verlander; O Levran; S D Batish; C R Eide; A Steffenhagen; B Hirsch; A D Auerbach
Journal:  Proc Natl Acad Sci U S A       Date:  2001-02-13       Impact factor: 11.205

7.  Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions.

Authors:  Samuel Quentin; Wendy Cuccuini; Raphael Ceccaldi; Olivier Nibourel; Corinne Pondarre; Marie-Pierre Pagès; Nadia Vasquez; Catherine Dubois d'Enghien; Jérôme Larghero; Régis Peffault de Latour; Vanderson Rocha; Jean-Hugues Dalle; Pascale Schneider; Mauricette Michallet; Gérard Michel; André Baruchel; François Sigaux; Eliane Gluckman; Thierry Leblanc; Dominique Stoppa-Lyonnet; Claude Preudhomme; Gérard Socié; Jean Soulier
Journal:  Blood       Date:  2011-02-16       Impact factor: 22.113

8.  Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation.

Authors:  R Coleman Lindsley; Wael Saber; Brenton G Mar; Robert Redd; Tao Wang; Michael D Haagenson; Peter V Grauman; Zhen-Huan Hu; Stephen R Spellman; Stephanie J Lee; Michael R Verneris; Katharine Hsu; Katharina Fleischhauer; Corey Cutler; Joseph H Antin; Donna Neuberg; Benjamin L Ebert
Journal:  N Engl J Med       Date:  2017-02-09       Impact factor: 91.245

9.  Clonal hematopoiesis in patients with dyskeratosis congenita.

Authors:  Nieves Perdigones; Juan C Perin; Irene Schiano; Peter Nicholas; Jaclyn A Biegel; Philip J Mason; Daria V Babushok; Monica Bessler
Journal:  Am J Hematol       Date:  2016-10-21       Impact factor: 10.047

Review 10.  Significance of Clonal Mutations in Bone Marrow Failure and Inherited Myelodysplastic Syndrome/Acute Myeloid Leukemia Predisposition Syndromes.

Authors:  Eva J Schaefer; R Coleman Lindsley
Journal:  Hematol Oncol Clin North Am       Date:  2018-05-01       Impact factor: 3.722
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  1 in total

Review 1.  Overview of inherited bone marrow failure syndromes.

Authors:  Meerim Park
Journal:  Blood Res       Date:  2022-04-30
  1 in total

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