How I manage patients with Fanconi anaemia

Research output: Contribution to journalReview article

12 Citations (Scopus)

Abstract

Fanconi Anaemia is a rare, genetic heterogeneous multisystem disease that is the most common congenital syndrome of marrow failure. Twenty genes have been reported to cause the disease. Remarkable progress has been made over the last 20 years in the understanding of the genetic and pathophysiological mechanisms. Unfortunately, these advances have not been completely paralleled by advances in medical treatment, where the most important component remains stem cell transplantation. This therapy, although contributing to long-term negative effects, such as increased occurrence of late malignancies, is the only current option capable of prolonging the survival of patients. In spite of relevant recent progress in matched unrelated donor transplants, the largest studies with longer follow-up still show a superiority of matched sibling donor transplants with a success rate, in selected cohorts, of over 90%. This article reviews different aspects of the disease, including genetics, diagnosis and treatment options, with special focus on stem cell transplantation, comprehensive post-diagnosis management, decision-making processes and long-term follow-up.

Original languageEnglish
Pages (from-to)32-47
Number of pages16
JournalBritish Journal of Haematology
Volume178
Issue number1
DOIs
Publication statusPublished - Jul 2017

Fingerprint

Fanconi Anemia
Stem Cell Transplantation
Unrelated Donors
Inborn Genetic Diseases
Siblings
Decision Making
Therapeutics
Bone Marrow
Tissue Donors
Transplants
Survival
Genes
Neoplasms

Keywords

  • Abnormalities, Multiple
  • Clinical Decision-Making
  • Fanconi Anemia
  • Fanconi Anemia Complementation Group Proteins
  • Histocompatibility
  • Histocompatibility Testing
  • Humans
  • Mutation
  • Stem Cell Transplantation
  • Tissue Donors
  • Journal Article
  • Review

Cite this

How I manage patients with Fanconi anaemia. / Dufour, Carlo.

In: British Journal of Haematology, Vol. 178, No. 1, 07.2017, p. 32-47.

Research output: Contribution to journalReview article

@article{762442d8f0bb405fbb9bc38440516795,
title = "How I manage patients with Fanconi anaemia",
abstract = "Fanconi Anaemia is a rare, genetic heterogeneous multisystem disease that is the most common congenital syndrome of marrow failure. Twenty genes have been reported to cause the disease. Remarkable progress has been made over the last 20 years in the understanding of the genetic and pathophysiological mechanisms. Unfortunately, these advances have not been completely paralleled by advances in medical treatment, where the most important component remains stem cell transplantation. This therapy, although contributing to long-term negative effects, such as increased occurrence of late malignancies, is the only current option capable of prolonging the survival of patients. In spite of relevant recent progress in matched unrelated donor transplants, the largest studies with longer follow-up still show a superiority of matched sibling donor transplants with a success rate, in selected cohorts, of over 90{\%}. This article reviews different aspects of the disease, including genetics, diagnosis and treatment options, with special focus on stem cell transplantation, comprehensive post-diagnosis management, decision-making processes and long-term follow-up.",
keywords = "Abnormalities, Multiple, Clinical Decision-Making, Fanconi Anemia, Fanconi Anemia Complementation Group Proteins, Histocompatibility, Histocompatibility Testing, Humans, Mutation, Stem Cell Transplantation, Tissue Donors, Journal Article, Review",
author = "Carlo Dufour",
note = "{\circledC} 2017 John Wiley & Sons Ltd.",
year = "2017",
month = "7",
doi = "10.1111/bjh.14615",
language = "English",
volume = "178",
pages = "32--47",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "John Wiley & Sons, Ltd (10.1111)",
number = "1",

}

TY - JOUR

T1 - How I manage patients with Fanconi anaemia

AU - Dufour, Carlo

N1 - © 2017 John Wiley & Sons Ltd.

PY - 2017/7

Y1 - 2017/7

N2 - Fanconi Anaemia is a rare, genetic heterogeneous multisystem disease that is the most common congenital syndrome of marrow failure. Twenty genes have been reported to cause the disease. Remarkable progress has been made over the last 20 years in the understanding of the genetic and pathophysiological mechanisms. Unfortunately, these advances have not been completely paralleled by advances in medical treatment, where the most important component remains stem cell transplantation. This therapy, although contributing to long-term negative effects, such as increased occurrence of late malignancies, is the only current option capable of prolonging the survival of patients. In spite of relevant recent progress in matched unrelated donor transplants, the largest studies with longer follow-up still show a superiority of matched sibling donor transplants with a success rate, in selected cohorts, of over 90%. This article reviews different aspects of the disease, including genetics, diagnosis and treatment options, with special focus on stem cell transplantation, comprehensive post-diagnosis management, decision-making processes and long-term follow-up.

AB - Fanconi Anaemia is a rare, genetic heterogeneous multisystem disease that is the most common congenital syndrome of marrow failure. Twenty genes have been reported to cause the disease. Remarkable progress has been made over the last 20 years in the understanding of the genetic and pathophysiological mechanisms. Unfortunately, these advances have not been completely paralleled by advances in medical treatment, where the most important component remains stem cell transplantation. This therapy, although contributing to long-term negative effects, such as increased occurrence of late malignancies, is the only current option capable of prolonging the survival of patients. In spite of relevant recent progress in matched unrelated donor transplants, the largest studies with longer follow-up still show a superiority of matched sibling donor transplants with a success rate, in selected cohorts, of over 90%. This article reviews different aspects of the disease, including genetics, diagnosis and treatment options, with special focus on stem cell transplantation, comprehensive post-diagnosis management, decision-making processes and long-term follow-up.

KW - Abnormalities, Multiple

KW - Clinical Decision-Making

KW - Fanconi Anemia

KW - Fanconi Anemia Complementation Group Proteins

KW - Histocompatibility

KW - Histocompatibility Testing

KW - Humans

KW - Mutation

KW - Stem Cell Transplantation

KW - Tissue Donors

KW - Journal Article

KW - Review

U2 - 10.1111/bjh.14615

DO - 10.1111/bjh.14615

M3 - Review article

C2 - 28474441

VL - 178

SP - 32

EP - 47

JO - British Journal of Haematology

JF - British Journal of Haematology

SN - 0007-1048

IS - 1

ER -