Results of Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Acute Myeloid Leukemia with t(8;21)(q22;q22)/RUNX1-RUNX1T1 and Additional Cytogenetic Abnormalities

Гиндина, Т. Л.; Nn, Mamaev; Bondarenko, SN; Николаева, Э.; Slesarchuk, OA; Боровкова, А С; Паина, О. В.; Razumova, SV; Alyanskii, AL; Zubarovskaya, L. S.; Афанасьев, Б. В.

doi:10.21320/2500-2139-2016-9-2-148-154

Cited by 3 publications

(1 citation statement)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Some other groups have recently reported on high number of additional chromosome and genetic abnormalities in patients with t (8;21), thus suggesting an impact on clinical outcome [41,42]. We have recently yielded similar results in allo-HSCT patients with t(8;21) [43]. The study enrolled 25 RUNX1-RUNX1T1-positive AML patients (10 females and 15 males, age 2-58 years, a median of 20.2 years).…”

Section: Aml With T(8;21)(q22;q22) Runx1/runx1t1 Inv(16)(p13q22)/t(1supporting

confidence: 61%

Chromosome Abnormalities and Hematopoietic Stem Cell Transplantation in Acute Leukemias

Gindina¹,

Мамаев²,

Afanasyev³

2017

Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability

View full text Add to dashboard Cite

The chapter considers specific treatment options, including allogeneic hematopoietic stem cell transplantation (allo-HSCT) in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), in patients with some prognostically proven cytogenetic variants as monosomal ones, complex and hyperdiploid karyotypes, like chromosomal translocations t(v;11)(v;q23), t(3;3)/inv(3); t(8;21), t(9;22), etc. Important prognostic role of additional chromosome abnormalities was shown for the patients with t(8;21) and t(9;22). Hence, it is evident that allo-HSCT in patients with poor risk cytogenetic variant must be performed as early as possible, i.e., during first complete remission.

show abstract

Section: Aml With T(8;21)(q22;q22) Runx1/runx1t1 Inv(16)(p13q22)/t(1supporting

confidence: 61%

Chromosome Abnormalities and Hematopoietic Stem Cell Transplantation in Acute Leukemias

Gindina¹,

Мамаев²,

Afanasyev³

2017

Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability

View full text Add to dashboard Cite

show abstract

BAALC-Expressing Leukemia Hematopoietic Stem Cells and Their Place in the Study of CBF-Positive Acute Myeloid Leukemias in Children and Adults

Канунников,

Мамаев,

Гиндина

et al. 2024

Clinical Oncohematology

View full text Add to dashboard Cite

Background. Due to changing views on pathogenesis, risk factors and therapy strategies in prognostically favorable CBF-positive acute myeloid leukemias[1] (AML), the expression monitoring of RUNX1/RUNX1T1 or CBFB/MYH11 fusion genes, as an additional evaluation of treatment outcomes, appears to be insufficient. This indicates the need to improve the monitoring of the CBF+ AML course by means of parallel measurements of BAALC expression levels which roughly correlate with the mass of BAALC-expressing leukemia hematopoietic stem cells (BAALC-e LHSC). Aim. To improve the quality of assessing treatment outcomes with due account for expression levels of RUNX1/RUNX1T1 or CBFB/MYH11 fusion genes and the mass of BAALC-e LHSC and on this basis to pave the way for personalized CBF+ AML treatment. Materials & Methods. This study enrolled 39 adult patients aged 20–81 years (median 32 years) and 8 children aged 2–18 years (median 12 years). Among them there were 20 females and 27 males. AML with inv(16)(p13;q22)/t(16;16) was identified in 19 patients, t(8;21)(q22;q22) was detected in 28 patients. BAALC, WT1, RUNX1/RUNX1T1, CBFB/MYH11 expression levels were measured by quantitative real-time PCR and related to the expression of the ABL1 expert gene. Results. In 23 patients, inv(16) and t(8;21) appeared to be isolated. Additional multidirectional chromosomal changes were observed in 24 patients with inv(16) and in 18 patients with t(8;21). All enrolled patients showed increased BAALC expression. In the course of therapy, it was decreasing to the threshold value in 16/18 (89 %) patients. The evaluation of the mean BAALC expression levels in the pooled groups of children and adults with isolated findings of either inv(16) or t(8;21) showed the decrease of the BAALC-e LHSC mass only in children (p = 0.049). The comparison of the mean WT1 expression levels in the pooled groups of children and adults with isolated and additional chromosomal abnormalities revealed their significant decrease in patients with complicated variants (p = 0.023). Conclusion. The case reports provided in this paper show that the molecular monitoring with serial measurements of fusion genes and BAALC gene expression levels in CBF+ AML patients can lay the basis for further improvement of personalized treatment strategies for these patients. In all likelihood, parallel measurements of the above gene expression levels will allow to establish the framework for decision-making concerning treatment extent and timely HSC transplantation.

show abstract

Cytogenetic and molecular genetic diagnostics in oncohematological disorders: a position paper of the Organization of Molecular Geneticists in Oncology and Oncohematology

Tsaur

Olshanskaya

Obukhova³

et al. 2023

Gematologiâ i transfuziologiâ

View full text Add to dashboard Cite

Introduction. Currently, there is no unequivocal opinion on the optimal list of studies for the genetic diagnosis of oncohematological disorders in children and adults. These discrepancies are due to the limited technological capabilities of laboratories, the rapid development of science, and a significant expansion of the range of new molecular markers, that are attractive, but only for a limited group of patients. Moreover, in modern conditions of limited access to resources, it seems important to bring desires, interests and opportunities to a common denominator. Aim — to develop unified approaches to the cytogenetic and molecular genetic diagnosis of oncohematological diseases in children and adults based on the consensus opinion of the panel of experts. Main findings. The review proposes the arrangement of cytogenetic and molecular genetic diagnostic tests in oncohematological disorders in children and adults into 3 categories depending on the frequency of genetic aberrations, the study complexity and the prognostic impact. Based on this and taking into account the diagnosis and age of patients, the minimal and optimal lists of clinically significant parameters and research markers were identified. The basic preanalytical principles for conducting cytogenetic and molecular genetic studies in oncohematology are pointed out. A brief description of a conventional cytogenetic study and a polymerase chain reaction for the diagnosis of oncohematological diseases is given. The paper also focused on the need for reference diagnostics of cytogenetic and molecular genetic studies in oncohematology. The article is addressed to the specialists in the field of laboratory genetics, clinical laboratory diagnostics, but may also be of interest to hematologists, pediatric oncologists and doctors of related branches.

show abstract

Results of Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Acute Myeloid Leukemia with t(8;21)(q22;q22)/RUNX1-RUNX1T1 and Additional Cytogenetic Abnormalities

Cited by 3 publications

References 16 publications

Chromosome Abnormalities and Hematopoietic Stem Cell Transplantation in Acute Leukemias

Chromosome Abnormalities and Hematopoietic Stem Cell Transplantation in Acute Leukemias

BAALC-Expressing Leukemia Hematopoietic Stem Cells and Their Place in the Study of CBF-Positive Acute Myeloid Leukemias in Children and Adults

Cytogenetic and molecular genetic diagnostics in oncohematological disorders: a position paper of the Organization of Molecular Geneticists in Oncology and Oncohematology

Contact Info

Product

Resources

About