22q11 Deletion Syndrome with Vascular Anomalies.

DiGeorge syndrome, also termed 22q11.2 deletion syndrome, represents a spectrum of disorders that include thymic aplasia/hypoplasia, parathyroid aplasia/hypoplasia, conotruncal vascular anomalies, and velocardiofacial (Shprintzen) syndrome. This case report describes a novel constellation of cardiovascular anomalies in a 31-year-old patient with 22q11.2 deletion confirmed by fluorescence in situ hybridization at the age of 24. CT angiogram of the thorax revealed a right aortic arch with mirror image branching and unilateral absence of the left pulmonary artery with collateral flow through left intercostal arteries and hypertrophied left bronchial artery. This particular cluster of vascular findings has not been previously described in the imaging literature in a patient with known 22q11.2 deletion.

Clinical breast concerns in low-risk pediatric patients: practice review with proposed recommendations.

BACKGROUND: Fibroadenoma is overwhelmingly the most common pediatric breast lesion. Breast malignancy is quite uncommon in children, most frequently metastatic or hematological malignancy. Core biopsy has largely replaced excision for diagnosis of breast masses in adults. OBJECTIVE: The purpose of this study is two-fold: (1) compare utilization at our institution of interventional procedures vs. surgery for breast mass diagnosis in patients ≤18 years and (2) propose guidelines for breast imaging and biopsy in this population. MATERIALS AND METHODS: We extracted data for all patients ≤18 who, between 2004 and 2016, underwent either (a) imaging and/or intervention procedure, or (b) breast surgery, from the Radiology Information System and Pathology Data System, respectively. We recorded age, gender, imaging, procedure, lesion size and histopathology. RESULTS: We found 1,050 pediatric patients ≤18 years who underwent diagnostic breast ultrasound between 2004 and 2016. Of these, 168 patients underwent 199 interventional procedures. One hundred thirty patients underwent 160 core biopsies of solid lesions. Core biopsy pathology diagnosed benign lesions in 99%, of which 84.3% were fibroadenomas (n=135). One malignancy was diagnosed, B cell lymphoma. Two hundred three patients underwent surgical excision for 266 discrete lesions, and 89% were fibroadenomas. Seven benign phyllodes tumors were surgically diagnosed. No malignancies were diagnosed. CONCLUSION: Core biopsy in patients 18 years and younger is well-tolerated, has few risks, and is preferable to surgery in developing breasts, but the goal is to avoid any breast procedure whenever possible. We propose guidelines for pediatric breast imaging, follow-up, core biopsy and excisions.

Macroscopic lymphovascular invasion visualized on mammogram and magnetic resonance imaging: Initially misidentified as ductal carcinoma in situ but properly diagnosed by immunohistochemistry.

OBJECTIVES: Lymphovascular invasion (LVI) is a pathologic, microscopic finding associated with invasive cancer, and is a poor prognostic indicator, but has no reported imaging findings. This report presents the first documented case of LVI with seen by imaging. Linear branching microcalcifications were identified on mammography and clumped enhancement was noted on MRI, both imaging findings that are highly predictive of ductal carcinoma in situ (DCIS). METHODS: Ultrasound guided core biopsy of the dominant mass was performed, confirming invasive ductal malignancy. Stereotactic biopsy performed on the microcalcifications was initially interpreted by pathology as DCIS. RESULTS: Patient underwent mastectomy. Pathologic evaluation of the surgical specimen confirmed the invasive ductal malignancy. Microcalcifications were re-evaluated with immunohistochemistry (IHC) and re-classified as LVI. Radiology images and IHC stains are shown. CONCLUSION: This is the first report of LVI identified by imaging with findings that mimicked DCIS and initially mis-identified as DCIS by pathology as well. The implications of this overlap in radiologic appearance are discussed.