Pathophysiology and management of inherited bone marrow failure syndromes

Akiko Shimamura, Blanche P. Alter

Research output: Contribution to journalArticle

Abstract

The inherited marrow failure syndromes are a diverse set of genetic disorders characterized by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly variable and much broader than previously recognized. The medical management of the inherited marrow failure syndromes differs from that of acquired aplastic anemia or malignancies arising in the general population. Diagnostic workup, molecular pathogenesis, and clinical treatment are reviewed.

Original languageEnglish (US)
Pages (from-to)101-122
Number of pages22
JournalBlood Reviews
Volume24
Issue number3
DOIs
StatePublished - May 2010
Externally publishedYes

Fingerprint

Bone Marrow
Inborn Genetic Diseases
Molecular Pathology
Aplastic Anemia
Neoplasms
Phenotype
Population
Bone Marrow failure syndromes
Therapeutics

Keywords

  • Aplastic anemia
  • Diamond-Blackfan anemia
  • Dyskeratosis congenita
  • Fanconi
  • Inherited bone marrow failure syndromes
  • Shwachman-Diamond syndrome

ASJC Scopus subject areas

  • Hematology
  • Oncology

Cite this

Pathophysiology and management of inherited bone marrow failure syndromes. / Shimamura, Akiko; Alter, Blanche P.

In: Blood Reviews, Vol. 24, No. 3, 05.2010, p. 101-122.

Research output: Contribution to journalArticle

Shimamura, Akiko ; Alter, Blanche P. / Pathophysiology and management of inherited bone marrow failure syndromes. In: Blood Reviews. 2010 ; Vol. 24, No. 3. pp. 101-122.
@article{02f25780dd9e49b6a78927e0f89a0751,
title = "Pathophysiology and management of inherited bone marrow failure syndromes",
abstract = "The inherited marrow failure syndromes are a diverse set of genetic disorders characterized by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly variable and much broader than previously recognized. The medical management of the inherited marrow failure syndromes differs from that of acquired aplastic anemia or malignancies arising in the general population. Diagnostic workup, molecular pathogenesis, and clinical treatment are reviewed.",
keywords = "Aplastic anemia, Diamond-Blackfan anemia, Dyskeratosis congenita, Fanconi, Inherited bone marrow failure syndromes, Shwachman-Diamond syndrome",
author = "Akiko Shimamura and Alter, {Blanche P.}",
year = "2010",
month = "5",
doi = "10.1016/j.blre.2010.03.002",
language = "English (US)",
volume = "24",
pages = "101--122",
journal = "Blood Reviews",
issn = "0268-960X",
publisher = "Churchill Livingstone",
number = "3",

}

TY - JOUR

T1 - Pathophysiology and management of inherited bone marrow failure syndromes

AU - Shimamura, Akiko

AU - Alter, Blanche P.

PY - 2010/5

Y1 - 2010/5

N2 - The inherited marrow failure syndromes are a diverse set of genetic disorders characterized by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly variable and much broader than previously recognized. The medical management of the inherited marrow failure syndromes differs from that of acquired aplastic anemia or malignancies arising in the general population. Diagnostic workup, molecular pathogenesis, and clinical treatment are reviewed.

AB - The inherited marrow failure syndromes are a diverse set of genetic disorders characterized by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly variable and much broader than previously recognized. The medical management of the inherited marrow failure syndromes differs from that of acquired aplastic anemia or malignancies arising in the general population. Diagnostic workup, molecular pathogenesis, and clinical treatment are reviewed.

KW - Aplastic anemia

KW - Diamond-Blackfan anemia

KW - Dyskeratosis congenita

KW - Fanconi

KW - Inherited bone marrow failure syndromes

KW - Shwachman-Diamond syndrome

UR - http://www.scopus.com/inward/record.url?scp=77952674566&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77952674566&partnerID=8YFLogxK

U2 - 10.1016/j.blre.2010.03.002

DO - 10.1016/j.blre.2010.03.002

M3 - Article

C2 - 20417588

AN - SCOPUS:77952674566

VL - 24

SP - 101

EP - 122

JO - Blood Reviews

JF - Blood Reviews

SN - 0268-960X

IS - 3

ER -