A novel de-novo <i>RB1</i> mutation identified in a patient with bilateral retinoblastoma-Reference-Cited by-同舟云学术

A novel de-novo RB1 mutation identified in a patient with bilateral retinoblastoma

Published:2023-06-21 Issue:9 Volume:53 Page:863-865
ISSN:1465-3621
Container-title:Japanese Journal of Clinical Oncology
language:en
Short-container-title:

Author:

Fukushima Hiroko¹^ORCID,Suzuki Ryoko¹,Hiraoka Takahiro²,Suzuki Shigenobu³,Noguchi Emiko⁴,Takada Hidetoshi¹

Affiliation:

1. University of Tsukuba Department of Child Health, Institution of Medicine, , Ibaraki, Japan

2. University of Tsukuba Department of Ophthalmology, Institution of Medicine, , Ibaraki, Japan

3. National Cancer Center Hospital Department of Ophthalmic Oncology, , Tokyo, Japan

4. University of Tsukuba Department of Medical Genetics, Institution of Medicine, , Ibaraki, Japan

Abstract

Abstract Retinoblastoma manifests as ocular malignancy due to mutations in the RB1 gene. A 17-month-old girl with bilateral retinoblastoma having no family history was admitted to our hospital. The right eye was enucleated but the other was preserved with systemic chemotherapy and topical treatment. The patient has been tumor-free for over 7 years since diagnosis. All exons of RB1 were sequenced and a novel 1-base pair deletion (NM_000321.2:c.2409del, p.Asn803Lysfs*7) was detected.

Funder

Japan Society for the Promotion of Science

Publisher

Oxford University Press (OUP)

Subject

Cancer Research,Radiology, Nuclear Medicine and imaging,Oncology,General Medicine

Link

https://academic.oup.com/jjco/article-pdf/53/9/863/51308833/hyad064.pdf

Reference14 articles.

1. The management of retinoblastoma;Fabian;Oncogene,2018

2. RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database;Valverde;BMC Genet,2005

3. Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma;Richter;Am J Hum Genet,2003

4. Selective ophthalmic arterial injection therapy for intraocular retinoblastoma: the long-term prognosis;SuzukiS;Ophthalmology,2011

5. Second primary osteosarcomas in patients with retinoblastoma;Fujiwara;Jpn J Clin Oncol,2015