Management of reproductive health in Cowden syndrome complicated by endometrial polyps and breast cancer.

[cowden syndrome]

Cowden syndrome is an autosomal-dominant condition associated with mutations in the tumor suppressor gene PTEN . Gynecologic malignancies are common with a 5 -10 % risk of endometrial cancer and 25 -50 % risk of breast cancer .A 37 -year -old woman with a history of breast cancer , other neoplasms , and multiple skin lesions was diagnosed with Cowden syndrome after a germline PTEN mutation was identified . The endometrium had high glucose uptake on positron emission tomography scan and was irregularly thickened on ultrasonography ; biopsy revealed endometrial polyps and simple hyperplasia . Fifteen months later , hysteroscopy again confirmed numerous benign endometrial polyps .Recurrent , multiple endometrial polyps portend a high risk of endometrial cancer in women with Cowden syndrome . Monitoring for malignancy and consideration of hysterectomy after childbearing is completed is warranted .

Diseases
Validation

Diseases presenting "high risk" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

aniridia

canavan disease

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

fabry disease

harlequin ichthyosis

heparin-induced thrombocytopenia

hirschsprung disease

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

krabbe disease

legionellosis

liposarcoma

locked-in syndrome

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

phenylketonuria

primary hyperoxaluria type 1

severe combined immunodeficiency

sneddon syndrome

waldenström macroglobulinemia

werner syndrome

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