Analysis of PTEN Gene Mutations in Korean Patients With Cowden Syndrome and Polyposis Syndrome

Cowden syndrome (CS) is a rare, autosomal dominant, multisystem disease related to the mutation of Phosphatase and tensin homolog (PTEN) tumour suppressor gene. It is characterized by the occurrence of multiple hamartomas, mucocutaneous lesions, and is associated with a high risk of malignancies. Lhermitte–Duclos Disease (LDD), or dysplastic cerebellar gangliocytoma, is a rare hamartomatous lesion of the cerebellar cortex with a unique “Tiger Stripe” appearance on Magnetic Resonance Imaging (MRI). Since 1991, LDD has been considered pathognomonic and part of CS. In addition, as almost all adult onset LDD cases were associated with PTEN gene mutations, LDD and CS are both included in PTEN Harmartoma Tumour Syndrome (PHTS). In this article, we report a 48-year-old female patient, who presented with a right cerebellar lesion resulting in hydrocephalus. The histology of the cerebellar lesion confirmed the diagnosis of LDD, and her clinical history is highly suggestive of CS. Due to the high incidence of multisystemic malignancies and other disease, it is important for clinicians to be aware of the association between LDD and CS. Affected patients should be evaluated carefully and screened for cancers accordingly, so as to allow early diagnosis and treatment.

Download Full-text

Phosphatase and Tensin Homolog (PTEN) Gene Mutations and Autism: Literature Review and a Case Report of a Patient With Cowden Syndrome, Autistic Disorder, and Epilepsy

Journal of Child Neurology ◽

10.1177/0883073811420296 ◽

2011 ◽

Vol 27 (3) ◽

pp. 392-397 ◽

Cited By ~ 41

Author(s):

Sara Conti ◽

Maria Condò ◽

Annio Posar ◽

Francesca Mari ◽

Nicoletta Resta ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Autistic Disorder ◽

Gene Mutations ◽

Cowden Syndrome ◽

Pten Gene ◽

Phosphatase And Tensin Homolog ◽

Tensin Homolog

Download Full-text

Analysis of Gene Mutations Associated with Antibiotic Resistance inHelicobacter pyloriStrains Isolated from Korean Patients

The Korean Journal of Helicobacter and Upper Gastrointestinal Research ◽

10.7704/kjhugr.2014.14.2.95 ◽

2014 ◽

Vol 14 (2) ◽

pp. 95 ◽

Cited By ~ 2

Author(s):

Byoungrak An ◽

Byung Soo Moon ◽

Hyun Chul Lim ◽

Yong Chan Lee ◽

Heejung Kim ◽

...

Keyword(s):

Antibiotic Resistance ◽

Gene Mutations ◽

Korean Patients

Download Full-text

PTEN gene mutations correlate to poor prognosis in glioma patients: a meta-analysis

OncoTargets and Therapy ◽

10.2147/ott.s99942 ◽

2016 ◽

pp. 3485 ◽

Cited By ~ 9

Author(s):

Hua Yang ◽

Feng Han ◽

Rong Hu ◽

Jian Liu ◽

Jianmei Sui ◽

...

Keyword(s):

Poor Prognosis ◽

Meta Analysis ◽

Gene Mutations ◽

Pten Gene

Download Full-text

P003 Effect of PTEN gene mutations and environmental risk factors on progression and prognosis of bladder cancer

European Urology Supplements ◽

10.1016/s1569-9056(13)62331-3 ◽

2013 ◽

Vol 12 (6) ◽

pp. 132

Author(s):

G. Pourmand

Keyword(s):

Risk Factors ◽

Bladder Cancer ◽

Environmental Risk ◽

Gene Mutations ◽

Environmental Risk Factors ◽

Pten Gene

Download Full-text

Cowden Syndrome Diagnosed by Bilateral Breast Cancer with Lhermitte-Duclos Disease: A Case Report

Case Reports in Oncology ◽

10.1159/000506979 ◽

2020 ◽

Vol 13 (1) ◽

pp. 419-423

Author(s):

Tamami Morisaki ◽

Shinichiro Kashiwagi ◽

Rika Kouhashi ◽

Akimichi Yabumoto ◽

Yuka Asano ◽

...

Keyword(s):

Breast Cancer ◽

Relevant Literature ◽

Bilateral Breast Cancer ◽

Cowden Syndrome ◽

Thyroid Tumor ◽

Cerebellar Hemisphere ◽

Bilateral Mastectomy ◽

Pten Gene ◽

Early Detection Of Disease ◽

Increased Risk

Cowden syndrome is extremely rare and is characterized by multiple hamartomas in various tissues, including the skin, mucous membranes, gastrointestinal tract, breast, thyroid, and brain, and has an increased risk of breast, thyroid, and uterine cancers. Here, we report a case of Cowden syndrome diagnosed following presentation with bilateral breast cancer and provide a discussion of the relevant literature. A 47-year-old woman with a tumor in her right breast was referred to our hospital. She was diagnosed with bilateral breast cancer upon imaging and underwent a bilateral mastectomy and sentinel lymph node biopsy. Previously, she had undergone total thyroidectomy to treat a thyroid tumor. Approximately 3 years later, she was diagnosed with Lhermitte-Duclos disease affecting her left cerebellar hemisphere. As her sister and mother had also been diagnosed with breast cancer, we suspected that she might have an inherited disease. Since 80% of individuals with Cowden syndrome have a mutation in the phosphatase and tension homolog (PTEN) gene, we did not perform any genetic testing. Instead, we used the syndrome’s pathognomonic criteria and major criteria (breast cancer, thyroid tumor, and Lhermitte-Duclos disease) to diagnose our patient with Cowden syndrome. While treatment of Cowden syndrome is currently limited to strategies that can manage the symptoms, patients are at an increased risk of certain cancers and require regular screening to allow for early detection of disease.

Download Full-text