Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.

Purpose: The availability of molecular genetic testing for retinoblastoma (RB) in Malaysia has enabled patients with a heritable predisposition to the disease to be identified, which thus improves the clinical management of these patients and their families. In this paper, we presented our strategy for performing molecular genetic testing of the RB1 gene and the findings from our first 2 years of starting this service.

Methods: The peripheral blood of 19 RB probands, including seven bilateral and 12 unilateral cases, was obtained, and genomic DNA was extracted.

Presentation of retinoblastoma patients in Malaysia.

Background: Retinoblastoma is a rare type of cancer that usually develops in early childhood. If left untreated it can cause blindness and even death. The aim of this study is to determine sociodemographic and clinical features of retinoblastoma patients and also to determine the treatment pattern and outcome in Malaysia.

Late presentation of retinoblastoma in Malaysia.

Aims: The aims of this study were to review the presenting features, treatment and outcome for Malaysian children with retinoblastoma currently.

Subjects And Methods: This was a prospective study, conducted at the General Hospital Kuala Lumpur from August 2001 until October 2007. Clinical data were collected at presentation and follow-up.

Chemoreduction for intraocular retinoblastoma in Malaysia.

In the last decade, chemotherapy in combination with focal therapy (chemoreduction) has been increasingly used in intraocular retinoblastoma to avoid enucleation and radiotherapy. The aim of this study was to assess the feasibility and outcome of chemoreduction in Malaysian children with retinoblastoma. This was a prospective study from August 2001 to January 2006.