PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy

Dragoo, David D; Taher, Ahmed; Wong, Vincenzo K.; Elsaiey, Ahmed; Consul, Nikita; Mahmoud, Hagar; Mujtaba, Bilal; Stanietzky, Nir; Elsayes, Khaled M.

doi:10.3390/cancers13133120

Cited by 34 publications

(45 citation statements)

References 18 publications

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“…CS typically presents in the second to third decade of life but has been diagnosed anywhere from four to 75 years of age. It is slightly more common in females than males [4,12].…”

Section: Discussionmentioning

confidence: 99%

“…CS is inherited in an autosomal dominant pattern. CS is characterized by multiple hamartomatous neoplasms of ectodermal, mesodermal and endodermal origin [3][4][5]. The clinical features of CS commonly include benign breast disease, benign thyroid nodules and mucocutaneous lesions.…”

Section: Introductionmentioning

confidence: 99%

“…CS also carries increased risk of malignancies in all three germ layers. CS patients carry a lifetime risk of breast cancer ~85%, thyroid cancer ~38%, endometrial cancer ~28%, colorectal cancer ~9%, and melanoma ~6% [4,5]. Due to the PTEN germline mutation, CS patients can present in a variety of ways to a variety of specialists.…”

Section: Introductionmentioning

confidence: 99%

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Cowden Syndrome Case Report: Use of an Ultrasonic Surgical Aspirator for Cosmetic Removal of Lip Hamartomas

Montagne¹,

Wang²

2022

Cureus

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Cowden syndrome (CS) is an autosomal dominant condition that is relatively rare. CS patients can have tumors derived from all three germlines. They can present with mucocutaneous hamartomas or other benign tumors, and have an increased risk of malignancies of the thyroid, breast, kidney, GI tract, and skin.In our clinic, a 40-year-old CS patient presented for thyroidectomy after fine needle aspiration was suspicious for papillary thyroid carcinoma (PTC). Another major concern was the cosmetic appearance of her lips, which were diffusely covered with small hamartomas. We were able to remove these in a novel manner using a cavitron ultrasonic surgical aspirator (CUSA; Integra Lifesciences, Princeton, NJ, USA). Using the CUSA tangential to the lip surface allowed for removal of the hamartomas in a way that created a smooth and cosmetically appealing outcome for the patient. The use of an ultrasonic surgical aspirator is a novel way to cosmetically treat hamartomas of the lip for CS patients.

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“…CS typically presents in the second to third decade of life but has been diagnosed anywhere from four to 75 years of age. It is slightly more common in females than males [4,12].…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cowden Syndrome Case Report: Use of an Ultrasonic Surgical Aspirator for Cosmetic Removal of Lip Hamartomas

Montagne¹,

Wang²

2022

Cureus

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“…Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome/Cowden syndrome is an autosomal dominant disorder associated with germline mutations in the PTEN gene [ 49 ]. Located in chromosome 10, PTEN is a tumor suppressor gene involved in apoptosis, and cell cycle regulation via the mTOR pathway [ 50 ].…”

Section: Risk Factors For Rccmentioning

confidence: 99%

Epidemiology and Prevention of Renal Cell Carcinoma

Makino

Kadomoto

Izumi

et al. 2022

Cancers

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With 400,000 diagnosed and 180,000 deaths in 2020, renal cell carcinoma (RCC) accounts for 2.4% of all cancer diagnoses worldwide. The highest disease burden developed countries, primarily in Europe and North America. Incidence is projected to increase in the future as more countries shift to Western lifestyles. Risk factors for RCC include fixed factors such as gender, age, and hereditary diseases, as well as intervening factors such as smoking, obesity, hypertension, diabetes, diet and alcohol, and occupational exposure. Intervening factors in primary prevention, understanding of congenital risk factors and the establishment of early diagnostic tools are important for RCC. This review will discuss RCC epidemiology, risk factors, and biomarkers involved in reducing incidence and improving survival.

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“…org/ rare-disea se/ pten-hamar toma-tumor-syndr ome/). There appears to be a variety of breast diseases related to Cowden syndrome, including benign disease [13], cancers [14], and sarcomas [15]. Given that the lifetime risk of developing breast cancer is around 85%, the National Comprehensive Cancer Network (NCCN) includes breast cancer as a major diagnostic criterion for Cowden syndrome, along with Lhermitte-Duclos disease, thyroid carcinoma, and macrocephaly (http:// www.…”

Section: Introductionmentioning

confidence: 99%

A progressive and refractory case of breast cancer with Cowden syndrome

et al. 2022

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Background Cowden syndrome is a rare autosomal-dominant disease with a high risk of malignant tumors of the breast, commonly caused by germline mutations in the PTEN gene. Most breast cancers related to Cowden syndrome showed typically a slow-growing and favorable clinical course. Here, we report a progressive case of triple-negative breast cancer in a patient who was diagnosed with Cowden syndrome. Case presentation A 35-year-old female with breast cancer was referred to our hospital. Histopathological examination of the tumor showed that it was triple-negative breast cancer with high proliferation marker. Preoperative positron emission tomography-computed tomography showed abnormal uptake in the left cerebellar hemisphere in addition to the right breast and axillary lymph node. Brain T2-weighted magnetic resonance imaging revealed hyperintense bands in the left cerebellar hemisphere lesion, which demonstrated a “tiger-stripe” appearance. The patient’s mother had died of endometrial cancer. Subsequently, she underwent genetic testing, leading to a diagnosis of Cowden syndrome with a pathogenic variant c.823_840del.18 at exon 8 in PTEN. She was treated with neoadjuvant chemotherapy of eribulin and cyclophosphamide followed by adriamycin and cyclophosphamide. However, her tumors increased after these treatments. She was immediately surgically treated and received adjuvant chemotherapy of capecitabine. Unfortunately, the cancer recurred in the lung nine months after surgery. We then administered paclitaxel and bevacizumab therapy, but the disease rapidly progressed. Consequently, the patient died due to breast cancer about three months after recurrence. Conclusion We report an aggressive case of cancer with Cowden syndrome which was resistant to standard chemotherapy. Alteration of the phosphatidylinositol-3 kinase/Akt/mammalian target of rapamycin pathway due to inactivating PTEN protein may be associated with chemoresistance and serves as a candidate for therapeutic intervention in PTEN-related cancers.

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PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy

Cited by 34 publications

References 18 publications

Cowden Syndrome Case Report: Use of an Ultrasonic Surgical Aspirator for Cosmetic Removal of Lip Hamartomas

Cowden Syndrome Case Report: Use of an Ultrasonic Surgical Aspirator for Cosmetic Removal of Lip Hamartomas

Epidemiology and Prevention of Renal Cell Carcinoma

A progressive and refractory case of breast cancer with Cowden syndrome

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