Cowden/PTEN Hamartoma Tumor Syndrome – Flashcards
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What is Bannayan-Riley-Ruvalcaba syndrome?
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Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. Other features include hypotonia, thyroid abnormalities, seizures, hyperextensibility, scoliosis, and pectus excavatum
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When do signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome present?
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The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood.
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What type of benign growths are common in Bannayan-Riley-Ruvalcaba syndrome
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Hamartomas in the intestines, lipomas (fatty), angiolipomas (under the skin), and hemangiomas (purple/red growths that consist of tangles of abnormal blood vessels.
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What are the cancer risks associated with Bannayan-Riley-Ruvalcaba syndrome?
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Undetermined
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What is the prevalence of Bannayan-Riley-Ruvalcaba syndrome?
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Unknown
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Can people with Bannayan-Riley-Ruvalcaba syndrome? have family members with Cowden and vice versa?
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Yes- likely on a spectrum of the same syndrome
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PTEN-related Proteus syndrome
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Segmental overgrowth, lipomatosis, arteriovenous malformations, epidermal nevus. Does not meet strict guidelines for Proteus syndrome so other names have been proposed: SOLAMEN, type-2 segmental Cowden Syndrome
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Proteus-like syndrome
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People who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features
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What proportion of people with Proteous-like syndrome have a mutation in PTEN?
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50% These are autosomal dominant
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What are the major types of tumors associated with Cowden?
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Thyroid Breast Endometrium
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Other genes associated with cowden syndrome?
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KLLN methylation epimutation SDHB SDHC SDHD PIK3CA AKTI SEC23B
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What kind of thyroid cancer is seen in Cowden ?
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Usually follicular, rarely papillary, never medullary
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What other thyroid features are associated with Cowden?
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Structural lesions such as adenoma, multinodular goiter (75%)
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What is the risk of developing thyroid cancer for a person with Cowden?
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35%
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Median age for developing thyroid cancer with Cowden?
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37 (as young as 7)
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What is the risk of the developing breast cancer for a person with Cowden?
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85%, 50% by age 50
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What is the chance of a woman with Cowden syndrome having benign breast disease?
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67%
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What is the average age of diagnosis for breast cancer with Cowden?
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38-46
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What is the risk for endometrial cancer in Cowden?
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28%
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Starting age at risk for endometrial cancer in Cowden?
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late 30's-40's
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What benign endometrial feature is associated with Cowden?
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Benign uterine fibroids
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When do symptoms show for individuals with Cowden?
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Typically some features by age 20
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Other Cancer risks in Cowden?
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CRC, Renal cell carcinoma, cutaneous melanoma, brain tumors, CNS tumor called cerebral dysplastic gangliocytoma
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GI Polyps in Cowden?
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90%. Ranged from ganglioneuromatous, hamartomatous, juvenile, adenomateous
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Colon Cancer risk in Cowden?
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9%
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Colon Cancer age in Cowden?
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starting in 30s
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Renal Cancer risk in Cowden?
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35%
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Renal Cancer age in Cowden?
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40's
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Renal Cancer histology in Cowden?
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papillary
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Risk for melanoma in Cowden?
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5%
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What is Lhermitte-Duclos disease (LDD)
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very rare, benign brain tumor (dysplastic gangliocytoma of cerebellum) abnormal development and enlargement of cerebellum and increased intracranial pressure
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When does LDD typically manifest?
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20s/30s
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Symptoms of LDD
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Headache, nausea, cerebellar dysfunction, hydrocephalus, ataxia, visual disturbances
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Features associated with LDD
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megalencephaly, hydromyelia, polydactyly, partial gigantism, macroglossia
