Clinical diagnostic value of telomere length measurement in inherited bone marrow failure syndromes

Miwata, Shunsuke; Narita, Atsushi; Suzuki, Kyogo; Hamada, Masanori; Yoshida, Taro; Imaya, Masayuki; Yamamori, Ayako; Wakamatsu, Mitsuru; Narita, Kentaro; Kitazawa, Hironobu; Ichikawa, Daisuke; Taniguchi, Rieko; Kawashima, Nozomu; Nishikawa, Eri; Nishio, Naomichi; Kojima, Seiji; Muramatsu, Hideki; Takahashi, Yoshiyuki

doi:10.3324/haematol.2021.278334

Cited by 6 publications

(6 citation statements)

References 16 publications

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“…37 Further, the diagnostic value of TL in 133 patients with BMF was evaluated and compared in patients with DKC, non-DKC IBMFS, and AA. This study observed no significant difference in telomere length between non-DC IBMFS (FA: 9/15) compared to AA, 38 aligning with our data. This may be due to the lower age group…”

Section: Discussionsupporting

confidence: 91%

Comparison of telomere length in patients with bone marrow failure syndromes and healthy controls

Barade,

Lakshmi,

Korula

et al. 2024

European J of Haematology

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IntroductionDuring normal aging, telomeric DNA is gradually lost in dividing somatic cells, and critically short telomeres lead to replicative senescence, apoptosis, or chromosomal instability. We studied telomere length in bone marrow failure syndromes (BMFS) compared to normal healthy population.MethodsPeripheral blood was collected from the participants, and genomic DNA was extracted. Relative telomere length was measured using a quantitative polymerase chain reaction. Statistical analysis was performed using SPSS and GraphPad Prism 8.2 software.ResultsThe median age of normal Indian population was 31 (0–60) years. As expected, telomere length (TL) showed a decline with age and no difference in TL between males and females. The median age of 650 patients with aplastic anemia (AA) was 30 (1–60) years. TL was significantly shorter in patients with AA compared to healthy controls (p < .001). In FA and MDS patients, TL was significantly shorter than age‐matched healthy controls (p = .028; p < .001), respectively. There was no difference between the median TL in age‐matched AA and FA patients (p = .727). However, patients with MDS had shorter TL than age‐matched AA (p = .031).ConclusionTL in BMF syndrome patients was significantly shorter than age‐matched healthy controls.

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Section: Discussionsupporting

confidence: 91%

Comparison of telomere length in patients with bone marrow failure syndromes and healthy controls

Barade,

Lakshmi,

Korula

et al. 2024

European J of Haematology

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“…В опубликованных исследованиях уже отмечалось, что ДТ в общей группе больных АА может быть сопо ставима с ДТ у здоровых доноров [6,8]. В нашей рабо те мы показали, что нет статистически значимых раз личий ДТ в мононуклеарах периферической крови и костного мозга больных АА и здоровых доноров.…”

Section: Discussionunclassified

“…Отдельного внимания заслуживают исследования по изучению длины теломер (ДТ), укорочение которых можно обнаружить у 5-25 % больных АА [6][7][8]. При этом в общей группе больных ДТ обычно соответству ет здоровому контролю, в отличие от ВД -конститу циональной АА, в патогенезе которой ведущую роль играют соматические мутации в генах теломеразного комплекса, ответственного за восстановление утрачен ных в ходе клеточного деления терминальных гексапо второв TTAGGG теломерных районов ДНК.…”

Section: Introductionunclassified

“…Максималь ная активность теломеразы отмечается в стволовых клетках и Тлимфоцитах, что и определяет развитие костномозговой недостаточности при теломеропатиях [9]. Обычно ДТ при ВД относится к первому процен тилю соответствующего возраста (ДТ меньше, чем у 99 % здоровых лиц), в то время как при приобретен ной АА такое укорочение ДТ встречается не более чем у 6 % больных [8,10,11].…”

Section: Introductionunclassified

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Telomere length of various blood and bone marrow cells in patients with aplastic anemia

Luchkin,

Mikhailova,

Galtseva

et al. 2023

Onkogematologiâ

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Background. Aplastic anemia proceeds with bone marrow failure and is associated with immunological suppression of normal blood stem cells’ proliferation, which lead to bone marrow aplasia. autoimmune aggression and internal defects of blood stem cell that cause abnormal hematopoiesis are being actively studied. An important role in the pathogenesis of the aplastic anemia is played by instability of telomere length (TL). determination of the initial TL makes it possible to clearly differentiate between the aplastic anemia and dyskeratosis congenita. also, it helps to identify the group of patients with short telomeres for prediction of therapy response. Aim. To investigation the TL of various blood and bone marrow cells in patients with aplastic anemia before treatment. Materials and methods. The group of patients with aplastic anemia was investigated (n = 45). blood donors (n = 32) and bone marrow donors (n = 10) of different ages were included in the reference group. adult patients with dyskeratosis congenita (n = 5) were included in the comparison group. Relative and absolute tl was identified in peripheral blood and bone marrow mononuclear cells, monocytes, lymphocytes by flow-FISH technique (combination of flow cytometry and fluorescence in situ hybridization). Results. Relative and absolute TL was comparable in different blood and bone marrow cells in patients with aplastic anemia before treatment. TL in peripheral blood and bone marrow mononuclear cells wasn’t significantly differed in groups of patients with aplastic anemia and healthy donors. Telomeres in patients with dyskeratosis congenita were identified as “ultrashort” and were significantly shorter than in patients with aplastic anemia. Conclusion. Determination of TL in patients with aplastic anemia is modern examination method, which is a necessary step of differential diagnosis between aplastic anemia and dyskeratosis congenita, which is the disease from group of constitutional bone marrow aplasia. It is preferred to identify the TL in adult patients with aplastic anemia by the flow-FISH. It is necessary to investigate the TL to predict treatment response and to identify risks of developing adverse experiences, which include relapse and clonal evolution.

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“…We recently performed a retrospective analysis of 133 patients with BMF, including 107 with AA and 26 with IBMFSs, who were genetically diagnosed by next-generation sequencing. 3 To achieve definitive diagnosis, a combination of clinical information, laboratory results, and genetic testing was used. In 112 of these patients, PNH-type granulocytes and red blood cells were also evaluated by flow cytometry.…”

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Minor PNH clones do not distinguish inherited bone marrow failure syndromes from immune-mediated aplastic anemia

et al. 2022

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Clinical diagnostic value of telomere length measurement in inherited bone marrow failure syndromes

Abstract: Not available.

Cited by 6 publications

References 16 publications

Comparison of telomere length in patients with bone marrow failure syndromes and healthy controls

Comparison of telomere length in patients with bone marrow failure syndromes and healthy controls

Telomere length of various blood and bone marrow cells in patients with aplastic anemia

Minor PNH clones do not distinguish inherited bone marrow failure syndromes from immune-mediated aplastic anemia

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