Identification of an asymptomatic Shwachman-Bodian-Diamond syndrome mutation in a patient with acute myeloid leukemia.
DNA
/ metabolism
DNA Repair
/ drug effects
Female
Genes, Recessive
/ genetics
Germ-Line Mutation
/ genetics
Humans
Leukemia, Myeloid, Acute
/ drug therapy
Middle Aged
Myelodysplastic Syndromes
/ etiology
Proteins
/ genetics
Shwachman-Diamond Syndrome
/ complications
Topoisomerase Inhibitors
/ adverse effects
Acute myeloid leukemia
DNA double-strand break repair
Shwachman–Diamond syndrome
Journal
International journal of hematology
ISSN: 1865-3774
Titre abrégé: Int J Hematol
Pays: Japan
ID NLM: 9111627
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
received:
24
07
2021
accepted:
21
10
2021
revised:
21
10
2021
pubmed:
28
10
2021
medline:
11
3
2022
entrez:
27
10
2021
Statut:
ppublish
Résumé
Shwachman-Diamond syndrome (SDS) is an autosomal recessive inherited disorder characterized by bone marrow failure, exocrine pancreatic dysfunction, and skeletal abnormalities. SDS is typically caused by a pathogenic mutation in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. Patients with SDS have an increased risk of developing acute myeloid leukemia (AML) and myelodysplastic syndromes. We identified germline biallelic SBDS mutations (p.K62X and p.I167M) in a 50-year-old AML patient who had never experienced the typical symptoms of SDS. The K62X mutation is one of the most common pathogenic mutations, whereas the significance of the I167M mutation was unclear. Based on cellular experiments, we concluded that the I167M mutation contributed to the development of AML, and chemotherapy including topoisomerase inhibitors, which induce DNA double-strand breaks, may have been toxic to this patient. Our experience indicates that some asymptomatic Shwachman-Bodian-Diamond syndrome mutations contribute to the development of leukemia, and that careful treatment selection may be warranted for patients harboring these mutations.
Identifiants
pubmed: 34704233
doi: 10.1007/s12185-021-03251-2
pii: 10.1007/s12185-021-03251-2
doi:
Substances chimiques
Proteins
0
SBDS protein, human
0
Topoisomerase Inhibitors
0
DNA
9007-49-2
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
428-434Subventions
Organisme : ministry of education, culture, sports, science and technology
ID : hp160219
Organisme : ministry of education, culture, sports, science and technology
ID : JP20cm0106501h0005
Informations de copyright
© 2021. Japanese Society of Hematology.
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