Adult-onset hereditary myeloid malignancy and allogeneic stem cell transplantation

Toya, Takashi; Harada, Hironori; Harada, Yuka; Doki, Noriko

doi:10.3389/fonc.2022.997530

Cited by 3 publications

(2 citation statements)

References 84 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The VAFs of gene mutations in seven patients including one in the AYA group and six in their 40s were close to 50% or 100%, suggesting a possible germline origin. These possible germline mutations might affect the clinical outcomes after HSCT, although the exact impact of these predispositions is largely unknown 37 . Transplantation from a donor with a predisposition to myeloid malignancy should be avoided because of the risk of donor cell leukemia 37 .…”

Section: Discussionmentioning

confidence: 99%

“…These possible germline mutations might affect the clinical outcomes after HSCT, although the exact impact of these predispositions is largely unknown 37 . Transplantation from a donor with a predisposition to myeloid malignancy should be avoided because of the risk of donor cell leukemia 37 . However, most of the patients in our study underwent unrelated HSCT.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes

Konishi

Sadato

Toya

et al. 2023

Sci Rep

Self Cite

View full text Add to dashboard Cite

Young adults with myelodysplastic syndrome (MDS) are rare, and the clinical significance of driver mutations has not yet been analysed. We analysed the gene mutations and copy number alterations (CNAs) in younger MDS patients using next-generation sequencing, targeting 68 genes that were recurrently mutated in myeloid malignancies, to investigate the correlation between their genetic alterations and clinical outcomes. We enrolled 55 patients retrospectively (aged < 50 years). At least one mutation was detected in 56% of the patients. The most frequently mutated genes were ASXL1 and RUNX1, 13% each. We defined higher-risk patients as those with ≥ 2 mutations, except for SF3B1 mutation, and/or CNA. The 3-year overall survival (OS) in patients with a higher-risk was lower than that in those with a lower-risk (50.8% vs. 71.8%, P = 0.024). Among the 44 transplant recipients, patients with higher-risk had a significantly lower OS and tended to have a higher cumulative incidence of relapse (CIR) than those with a lower-risk (3-year OS: 38.0% vs. 64.4%, P = 0.039; 3-year CIR: 44.0% vs. 24.1%, P = 0.076). Our results showed that genetic aberrations can predict clinical outcomes in younger MDS patients, despite the low rate of genetic mutations.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes

Konishi

Sadato

Toya

et al. 2023

Sci Rep

Self Cite

View full text Add to dashboard Cite

show abstract

Genomic Data Heterogeneity across Molecular Diagnostic Laboratories

Patel,

Erba,

Savona

et al. 2023

The Journal of Molecular Diagnostics

View full text Add to dashboard Cite

Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline DDX41 Mutation

Yoshida,

Semba,

Takashima

et al. 2024

Case Reports in Hematology

View full text Add to dashboard Cite

According to the 2016 World Health Organization classification, a germline DEAD‐box helicase 41 gene (DDX41) mutation with myeloid neoplasms has been newly classified. The clinical course of acute myeloid leukemia (AML) with a germline DDX41 mutation has not yet been clarified. In the early phase, this condition is slowly progressive, the rate of remission induction is high, and the prognosis is good. On the other hand, in the late phase, the gradual relapse rate increases and the ultimate prognosis can be poor. Currently, clear guidance on the indication for allogeneic hematopoietic stem cell transplantation (allogeneic HSCT) for AML with a germline DDX41 mutation has not been yet provided. However, we consider that allogeneic HSCT should be performed in patients who are eligible for allogeneic HSCT for germline DDX41 mutations in AML to overcome poor relapse‐free survival, referring to previous relevant papers. We report a 49‐year‐old patient who had pancytopenia and was finally diagnosed with a germline DDX41 mutation and AML. We decided to perform allogeneic HSCT. On day 68, he was complicated by acute graft versus host disease, gut stage 1, grade II, and was started on prednisolone 0.2 mg/kg. He recovered quickly and has been currently alive without symptoms of graft versus host disease for almost 2 years. Regarding donor search for allogeneic HSCT for AML with a germline DDX41 mutation, it is essential to ensure that the donor must be negative for this mutation when the donor is a family donor. If the related donor has a positive mutation, which can cause the development of donor‐derived leukemia, allogeneic HSCT should performed from an unrelated donor.

show abstract

Adult-onset hereditary myeloid malignancy and allogeneic stem cell transplantation

Cited by 3 publications

References 84 publications

Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes

Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes

Genomic Data Heterogeneity across Molecular Diagnostic Laboratories

Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline DDX41 Mutation

Contact Info

Product

Resources

About