Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

被引：63

作者：

Muramatsu, Hideki ^{[1
]}

Okuno, Yusuke ^{[1
]}

Yoshida, Kenichi ^{[2
]}

Shiraishi, Yuichi ^{[3
]}

Doisaki, Sayoko ^{[1
]}

Narita, Atsushi ^{[1
]}

Sakaguchi, Hirotoshi ^{[1
]}

Kawashima, Nozomu ^{[1
]}

Wang, Xinan ^{[1
]}

Xu, Yinyan ^{[1
]}

Chiba, Kenichi ^{[3
]}

Tanaka, Hiroko ^{[3
]}

Hama, Asahito ^{[1
]}

Sanada, Masashi ^{[2
,4
]}

Takahashi, Yoshiyuki ^{[1
]}

Kanno, Hitoshi ^{[5
]}

Yamaguchi, Hiroki ^{[6
]}

Ohga, Shouichi ^{[7
]}

Manabe, Atsushi ^{[8
]}

Harigae, Hideo ^{[9
]}

Kunishima, Shinji ^{[4
]}

Ishii, Eiichi ^{[10
]}

Kobayashi, Masao ^{[11
]}

Koike, Kenichi ^{[12
]}

Watanabe, Kenichiro ^{[13
]}

Ito, Etsuro ^{[14
]}

Takata, Minoru ^{[15
]}

Yabe, Miharu ^{[16
]}

Ogawa, Seishi ^{[2
]}

Miyano, Satoru ^{[3
,17
]}

Kojima, Seiji ^{[1
]}

机构：

[1] Nagoya Univ, Grad Sch Med, Dept Pediat, Nagoya, Aichi, Japan

[2] Kyoto Univ, Grad Sch Med, Dept Pathol & Tumor Biol, Kyoto, Japan

[3] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Lab DNA Informat Anal, Tokyo, Japan

[4] Natl Hosp Org Nagoya Med Ctr, Clin Res Ctr, Dept Adv Diag, Nagoya, Aichi, Japan

[5] Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo, Japan

[6] Nippon Med Sch, Dept Hematol, Tokyo, Japan

[7] Yamaguchi Univ, Grad Sch Med, Dept Pediat, Ube, Yamaguchi, Japan

[8] St Lukes Int Hosp, Dept Pediat, Tokyo, Japan

[9] Tohoku Univ, Grad Sch, Dept Hematol & Rheumatol, Sendai, Miyagi, Japan

[10] Ehime Univ, Grad Sch Med, Dept Pediat, Matsuyama, Ehime, Japan

[11] Hiroshima Univ Hosp, Dept Pediat, Hiroshima, Japan

[12] Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano, Japan

[13] Shizuoka Childrens Hosp, Dept Hematol Oncol, Shizuoka, Japan

[14] Hirosaki Univ, Grad Sch Med, Dept Pediat, Hirosaki, Aomori, Japan

[15] Kyoto Univ, Ctr Radiat Biol, Dept Late Effects Studies, Lab DNA Damage Signaling, Kyoto, Japan

[16] Tokai Univ Hosp, Dept Cell Transplantat & Regenerat Med, Isehara, Kanagawa, Japan

[17] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Lab Sequence Anal, Tokyo, Japan

来源：

GENETICS IN MEDICINE | 2017年 / 19卷 / 07期

关键词：

Fanconi anemia; inherited bone marrow failure; next-generation sequencing; target sequencing; whole-exome sequencing; MUTATIONS; ANEMIA;

D O I：

10.1038/gim.2016.197

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making. Methods: We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES). Results: We achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES. In the majority of cases (targeted sequencing: 45/53, 85%; WES: 63/68, 93%), the detected variants were concordant with, and therefore supported, the clinical diagnoses. However, in the remaining 13 cases (8 patients by target sequencing and 5 patients by WES), the clinical diagnoses were incompatible with the detected variants. Conclusion: Our approach utilizing targeted sequencing and WES achieved satisfactory diagnostic rates and supported the efficacy of massive parallel sequencing as a diagnostic tool for IBMFS.

引用

页码：796 / 802

页数：7

共 50 条

[11] Genetic testing by next generation sequencing is essential for accurate identification of inherited bone marrow failure syndromes
Viswanathan, G. K.
Dass, J.
Chauhan, R.
Rishi, D.
Mukul, A.
Pradeep, K.
Mahapatra, M.
Seth, T.
CLINICA CHIMICA ACTA, 2024, 558
[12] Value of next-generation sequencing in inherited arrhythmia syndromes
Min Jae Kim
You Ri Kim
Ki Hong Lee
Namsik Yoon
Hyung Wook Park
International Journal of Arrhythmia, 24 (1)
[13] Application of Novel Next Generation Sequencing Gene Panel Assay to Genetic and Clinical Diagnosis of Inherited Bone Marrow Failure Syndromes
Ghemlas, Ibrahim
Li, Hongbing
Zlateska, Bozana
Klaassen, Robert J.
Fernandez, Conrad V.
Yanofsky, Rochelle
Wu, John K.
Pastore, Yves
Silva, Mariana
Lipton, Jeffrey H.
Brossard, Josse
Bruno, Michon
Abish, Sharon
Steele, MacGregor
Sinha, Roona
Belletrutti, Mark J.
Breakey, Vicky R.
Jardine, Lawrence
Goodyear, Lisa
Sung, Lillian
Dhanraj, Santhosh
Reble, Emma
Wagner, Amanda
Beyene, Joseph
Ray, Peter
Meyn, Stephen
Cada, Michaela
Dror, Yigal
BLOOD, 2014, 124 (21)
[14] Clinical Sequencing of 347 Children with Acquired and Inherited Bone Marrow Failure Syndromes
Muramatsu, Hideki
Okuno, Yusuke
Yoshida, Kenichi
Shiraishi, Yuichi
Doisaki, Sayoko
Narita, Atsushi
Sakaguchi, Hirotoshi
Kawashima, Nozomu
Wang, Xinan
Xu, Yinyan
Chiba, Kenichi
Tanaka, Hiroko
Hama, Asahito
Sanada, Masashi
Takahashi, Yoshiyuki
Kanno, Hitoshi
Yamaguchi, Hiroki
Ohga, Shouichi
Manabe, Atsushi
Harigae, Hideo
Kunishima, Shinji
Ishii, Eiichi
Kobayashi, Masao
Koike, Kenichi
Watanabe, Kenichiro
Ito, Etsuro
Takata, Minoru
Yabe, Miharu
Ogawa, Seishi
Miyano, Satoru
Kojima, Seiji
BLOOD, 2017, 130
[15] NEXT GENERATION TARGETED SEQUENCING IMPROVED THE PRECISE DIAGNOSIS OF PEDIATRIC APLASTIC ANEMIA/INHERITED BONE MARROW FAILURE SYNDROMES
An, W.
Guo, Y.
Chen, Y.
Zou, Y.
Chen, X.
Yang, W.
Chang, L.
Wan, Y.
Zhu, X.
HAEMATOLOGICA, 2016, 101 : 172 - 173
[16] The clinical utility of next-generation sequencing for bone and soft tissue sarcoma
Gusho, Charles A.
Weiss, Mia C.
Lee, Linus
Gitelis, Steven
Blank, Alan T.
Wang, Dian
Batus, Marta
ACTA ONCOLOGICA, 2022, 61 (01) : 38 - 44
[17] The Significance of the Next Generation Targeted Sequencing in the Precise Diagnosis of Pediatric Acquire Aplastic Anemia and Inherited Bone Marrow Failure Syndromes
An, Wenbin
Guo, Ye
Chen, Yumei
Zou, Yao
Chen, Xiaojuan
Yang, Wenyu
Chang, Lixian
Wan, Yang
Zhu, Xiaofan
BLOOD, 2016, 128 (22)
[18] The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos
Fan, Junmei
Wang, Li
Wang, Hui
Ma, Minyue
Wang, Shufang
Liu, Zhongyu
Xu, Genming
Zhang, Jianguang
Cram, David S.
Yao, Yuanqing
REPRODUCTIVE BIOMEDICINE ONLINE, 2015, 31 (01) : 62 - 70
[19] Diagnosis of Inherited Bone Marrow Failure Syndromes Using Sequencing Approaches
Narita, Atsushi
Muramatsu, Hideki
Okuno, Yusuke
Yoshida, Kenichi
Shiraishi, Yuichi
Sakaguchi, Hirotoshi
Kawashima, Nozomu
Wang, Xinan
Xu, Yinyan
Chiba, Kenichi
Tanaka, Hiroko
Hama, Asahito
Sanada, Masashi
Hitoshi, Kanno
Yamaguchi, Hiroki
Ohga, Shouichi
Manabe, Atsushi
Harigae, Hideo
Kunishima, Shinji
Ishii, Eiichi
Kobayashi, Masao
Koike, Kenichi
Watanabe, Kenichiro
Ito, Etsuro
Takata, Minoru
Yabe, Miharu
Ogawa, Seishi
Miyano, Satoru
Kojima, Seiji
Takahashi, Yoshiyuki
PEDIATRIC BLOOD & CANCER, 2018, 65 : S7 - S7
[20] The clinical utility of next-generation sequencing in lung cancer
Rozenblum, A. Belilovski
Ilouze, M.
Dudnik, E.
Flex, D.
Dvir, A.
Soussan-Gutman, L.
Peled, N.
JOURNAL OF THORACIC ONCOLOGY, 2016, 11 (04) : S124 - S124

← 1 2 3 4 5 →