IDH1 mutated low grade astrocytoma occurring in MSH2 mutated Lynch syndrome family Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Tuesday, May 03, 2016

IDH1 mutated low grade astrocytoma occurring in MSH2 mutated Lynch syndrome family

open access

1. Introduction

Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal carcinoma, is an autosomal dominant tumour predisposition syndrome. It is caused by a germline mutation in one of the following DNA MMR genes: MLH1 (MutL homologue 1), MSH2 (MutS homologue 2), MSH6 (MutS homologue 6), or PMS2 (Postmeiotic segregation 2). Patients with a pathogenic DNA MMR gene mutation have a 10–50% risk for developing colorectal carcinoma at an early age (mean 45–50 years) and extracolonic malignancies can occur including endometrial, ovarian, hepatic, pancreatic and ureteric carcinomas and brain tumours [1] and [2].Although the 1–3% lifetime risk of brain tumours is low compared to other extracolonic tumours in LS families [1], this risk is 6 fold that of the general population and its occurrence has been termed Turcot Syndrome. The brain tumours previously described in Lynch/Turcot syndrome have mostly been high grade gliomas, predominantly glioblastomas, and less commonly, medulloblastomas [1], [3], [4], [5] and [6].A recent European study described the risk of developing brain tumours being highest (2.5%) in Lynch syndrome patients with MSH2 mutations, contained the first description of low grade astrocytoma in Lynch syndrome....

5. Conclusion

Brain tumours reported in Lynch syndrome families have predominantly been glioblastoma or medulloblastoma, and the present case expands this spectrum to include mIDH1 (R132H) mutated low grade astrocytoma.


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