使用从指甲剪屑中分离的DNA对血液系统恶性肿瘤患者进行全生殖系基因检测。 - Suppr | 超能文献

Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings.

作者信息

Ceyhan-Birsoy Ozge, Fiala Elise, Rana Satshil, Sheehan Margaret, Kennedy Jennifer, Yelskaya Zarina, Rai Vikas, Li Yirong, Yang Ciyu, Wong Donna, Rijo Ivelise, Casanova Jacklyn, Somar Joshua, Mehta Nikita, Park Hyeonjin, Ostafi Silvana, Arora Kanika, Padunan Angelika, Ewalt Mark D, Aypar Umut, Terraf Panieh, Misyura Maksym, Haque Sofia, Behr Gerald G, Haque Tamanna, Sulis Maria, Geyer Mark B, Forlenza Christopher, Thompson Meghan C, Carlo Maria, Latham Alicia, Liu Ying, Zehir Ahmet, Brannon Rose, Berger Michael, Diaz Luis A, Dogan Ahmet, Ladanyi Marc, Petrova-Drus Kseniya, Nafa Khedoudja, Offit Kenneth, Arcila Maria, Stadler Zsofia K, Walsh Michael F, Mandelker Diana

机构信息

Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY.

出版信息

Haematologica. 2024 Oct 1;109(10):3383-3390. doi: 10.3324/haematol.2024.285055.

DOI:10.3324/haematol.2024.285055

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11443390/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f79/11443390/e2b17c2b76ae/1093383.fig1.jpg

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings.

Haematologica. 2024 Oct 1;109(10):3383-3390. doi: 10.3324/haematol.2024.285055.

2

Cell-free DNA from nail clippings as source of normal control for genomic studies in hematologic malignancies.

Haematologica. 2024 Oct 1;109(10):3269-3281. doi: 10.3324/haematol.2024.285054.

3

Improving the detection of patients with inherited predispositions to hematologic malignancies using next-generation sequencing-based leukemia prognostication panels.

Cancer. 2018 Jul 1;124(13):2704-2713. doi: 10.1002/cncr.31331. Epub 2018 Apr 6.

4

Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies.

Fam Cancer. 2021 Oct;20(4):295-303. doi: 10.1007/s10689-021-00263-z. Epub 2021 May 31.

5

Multiple Primary Cancers With Hematologic Malignancies and Germline Predisposition: A Case Series.

Ann Lab Med. 2024 Sep 1;44(5):446-449. doi: 10.3343/alm.2023.0444. Epub 2024 Mar 7.

6

[Diagnostic approaches and clinical relevance of hereditary hematological malignancies].

Magy Onkol. 2025 Mar 21;69(1):61-72. Epub 2024 Dec 7.

7

Approach Toward Germline Predisposition Syndromes in Patients with Hematologic Malignancies.

Curr Hematol Malig Rep. 2022 Dec;17(6):275-285. doi: 10.1007/s11899-022-00684-2. Epub 2022 Oct 24.

8

Identifying possible germline variants from tumor-only sequencing of hematological malignancies.

Leuk Lymphoma. 2021 Feb;62(2):482-485. doi: 10.1080/10428194.2020.1832665. Epub 2020 Oct 15.

9

Germline Predisposition in Hematologic Malignancies: Testing, Management, and Implications.

Am Soc Clin Oncol Educ Book. 2024 Jun;44(3):e432218. doi: 10.1200/EDBK_432218.

10

Inherited predisposition to haematopoietic malignancies: overcoming barriers and exploring opportunities.

Br J Haematol. 2021 Aug;194(4):663-676. doi: 10.1111/bjh.17247. Epub 2020 Dec 5.

引用本文的文献

1

Detecting likely germline variants during tumor-based molecular profiling.

J Clin Invest. 2025 Aug 1;135(15). doi: 10.1172/JCI190264.

2

Germ line JAK2 variants and hereditary blood cancers.

Blood Adv. 2025 Apr 8;9(7):1585-1586. doi: 10.1182/bloodadvances.2025015810.

3

Right at your fingertips!

Haematologica. 2024 Oct 1;109(10):3097-3099. doi: 10.3324/haematol.2024.285371.

本文引用的文献

1

Cell-free DNA from nail clippings as source of normal control for genomic studies in hematologic malignancies.

Haematologica. 2024 Oct 1;109(10):3269-3281. doi: 10.3324/haematol.2024.285054.

2

Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing.

Nat Commun. 2023 Oct 28;14(1):6895. doi: 10.1038/s41467-023-42585-9.

3

Familial Clonal Hematopoiesis in a Long Telomere Syndrome.

N Engl J Med. 2023 Jun 29;388(26):2422-2433. doi: 10.1056/NEJMoa2300503. Epub 2023 May 4.

4

Germline loss-of-function and mutations and risk of hematopoietic malignancies.

Haematologica. 2024 Jan 1;109(1):351-356. doi: 10.3324/haematol.2022.281580.

5

Rare Germline Variants Influence the Development of Chronic Lymphocytic Leukemia.

J Clin Oncol. 2023 Feb 10;41(5):1116-1128. doi: 10.1200/JCO.22.00269. Epub 2022 Oct 31.

6

Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.

Genome Med. 2022 Aug 15;14(1):92. doi: 10.1186/s13073-022-01101-2.

7

The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms.

Leukemia. 2022 Jul;36(7):1703-1719. doi: 10.1038/s41375-022-01613-1. Epub 2022 Jun 22.

8

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

Hum Mutat. 2022 Jul;43(7):950-962. doi: 10.1002/humu.24374. Epub 2022 Apr 14.

9

Efficient identification of somatic mutations in acute myeloid leukaemia using whole exome sequencing of fingernail derived DNA as germline control.

Sci Rep. 2018 Sep 13;8(1):13751. doi: 10.1038/s41598-018-31503-5.

10

Genetic predisposition to hematologic malignancies: management and surveillance.

Blood. 2017 Jul 27;130(4):424-432. doi: 10.1182/blood-2017-02-735290. Epub 2017 Jun 9.