--- a +++ b/processing/MACCROBAT/25246819.txt @@ -0,0 +1,24 @@ +A 19-year-old woman presented with a lump in her right breast. +She had macrocephaly and milimetric papules on the tongue giving a cobble stone appearance. +The breast ultrasonography (US) showed more than twenty circumscribed, oval masses in each breast. +An US-guided core biopsy was performed for the palpable masses which were confirmed as juvenile fibroadenomas. +After the biopsy, a breast US was done as follow-up every 6 or 12 months for 3 years. +During the surveillance period, core biopsies were performed six times, followed by US-guided vacuum-assisted core needle excisions or surgical excisions of lesions with increased sizes. +Pathologic results were fibroadenoma, tubular adenoma or atypical ductal hyperplasia (ADH) involving fibroadenoma. +At the age of 19 years, the patient underwent a neck US for a palpable mass in the left neck. +Several indeterminate nodules were revealed in both thyroid glands. +A follow-up US revealed that some of those nodules increased in size. +The patient underwent a total thyroidectomy and the pathologic result revealed an invasive follicular carcinoma in the left thyroid and follicular adenoma in the right thyroid (Fig.1A). +At the age of 21 years, she visited the hospital due to a swelling of her left cheek. +Head and neck CT scan revealed a vascular mass in the left parotid gland extended into the left forehead. +An external carotid angiography confirmed the diagnosis of an AVM with feeder vessel arising from the left internal maxillary artery (Fig.1B). +A partial embolization decreased the blood flow through the AVM, alleviating the patient's symptom. +She was referred to genetic counseling under the suggestion of a Cowden syndrome and the PTEN DNA sequencing test of her blood sample revealed a frameshift mutation, c.301dupA (p.I101NfsX6). +At the age of 22 years, the patient presented with a mass with increased size and increased vascularity in the left breast. +An US-guided vacuum-assisted core needle excision revealed a ductal carcinoma in situ (DCIS) of non-comedo type and a low grade involving fibroadenoma (Fig.1C). +The contrast-enhanced breast MRI for the preoperative evaluation demonstrated multiple, well-circumscribed, enhancing masses in both breasts (Fig.1D). +All masses showed high or intermediate signal intensity on T2-weighted images (Fig.1E). +Several masses showed an early rapid enhancement with washout kinetic pattern on time-signal intensity curve evaluation, which tends to be associated with malignancy (Fig.1F). +A bilateral prophylactic mastectomy with immediate breast reconstruction was performed in view of multiple bilateral breast masses with suspicious kinetic features on breast MRI and a high risk for breast cancer of Cowden syndrome. +The surgical histopathology revealed ADH involving tubular adenoma without residual carcinoma in the left breast and multiple tubular adenomas, fibroadenomas and intraductal papillomas in both breasts. +The patient had no family history of breast cancer or Cowden syndrome.