High-Resolution Microscopy-Coil MR Imaging of Skin Tumors: Techniques and Novel Clinical Applications.

High-resolution magnetic resonance (MR) imaging performed with a microscopy coil is a robust radiologic tool for the evaluation of skin lesions. Microscopy-coil MR imaging uses a small surface coil and a 1.5-T or higher MR imaging system. Simple T1- and T2-weighted imaging protocols can be implemented to yield high-quality, high-spatial-resolution images that provide an excellent depiction of dermal anatomy. The primary application of microscopy-coil MR imaging is to delineate the deep margins of skin tumors, thereby providing a preoperative road map for dermatologic surgeons. This information is particularly useful for surgeons who perform Mohs micrographic surgery and in cases of nasofacial neoplasms, where the underlying anatomy is complex. Basal cell carcinoma is the most common nonmelanocytic skin tumor and has a predilection to manifest on the face, where it can be challenging to achieve complete surgical excision while preserving the cosmetic dignity of the patient. Microscopy-coil MR imaging provides dermatologic surgeons with valuable preoperative anatomic information that is not available at conventional clinical examination.

The celiac axis revisited: anatomic variants, pathologic features, and implications for modern endovascular management.

The celiac axis (CA) and its branches are critically important arteries that supply blood to the vital solid and hollow abdominal viscera of the foregut. There are many potential anatomic configurations, with up to half the population having a variation from the classic pattern of the CA bifurcating into the hepatosplenic trunk and left gastric artery. These configurations result from permutations in the fusion of the paired dorsal aortas during the first trimester. Despite the short length of the CA, it is affected by a wide range of pathologic conditions, including mesenteric ischemia due to intrinsic occlusion (secondary to causes such as atherosclerosis or thromboembolic events) and extrinsic compression from masses or the median arcuate ligament. Symptoms of mesenteric ischemia are nonspecific and include postprandial abdominal pain and weight loss; thus, the underlying pathologic condition may be found only when being sought specifically. More unusual pathologic conditions include dissection, aneurysms, and vascular malformations. Awareness of the pathologic conditions that affect the CA is important for both diagnostic and interventional radiologists. Early recognition and treatment of CA disease may prevent catastrophic hemorrhage and bowel infarction. Both endovascular and surgical approaches to treatment are greatly enhanced by correct identification of arterial anatomic variants; catheter angiography, computed tomographic angiography, and magnetic resonance angiography can facilitate detection of these variants. Knowledge of the different anatomic permutations is essential to guide endovascular procedures, such as hemorrhage control, transarterial interventional oncologic therapy, and treatment of visceral artery aneurysms. Online supplemental material is available for this article.

Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

CONTEXT: Pheochromocytoma/paraganglioma occurs almost exclusively after paternal transmission of succinate dehydrogenase D (SDHD) mutations. This parent-of-origin effect has not been fully explained but is accompanied by obligate loss of the maternal copy of chromosome 11. Loss of wild-type SDHD and an additional imprinted gene (hypothesized to be H19) appears necessary for tumor formation. Two previous reports suggested tumor formation after maternal transmission of SDHD mutation, but histological and molecular characterization was unavailable. OBJECTIVE: We report the first kindred in which histologically confirmed pheochromocytoma/paraganglioma occurred after maternal transmission of an SDHD mutation and investigate the molecular mechanism of tumor formation. DESIGN: The design of the investigation was the study of a three-generation family with SDHD c.242C>T (p.Pro81Leu) mutation. RESULTS: The index patient had a histologically confirmed pheochromocytoma and an identical SDHD germline mutation (p.Pro81Leu) to her mother (who had a glomus jugulare tumor) and paraganglioma tissue from her maternal grandfather. Tumor DNA from the index patient revealed loss of heterozygosity (LOH) at 11q23, causing loss of the wild-type paternal SDHD allele and LOH affecting maternal 11p15, including H19. These two regions of LOH were separated by a region exhibiting clearly retained heterozygosity, including SDHAF2, a recently reported paraganglioma susceptibility gene. CONCLUSIONS: Tumor formation can occur after maternal transmission of SDHD, a finding with important clinical implications for SDHD families. Tumor formation in SDHD mutation requires the loss of both the wild-type SDHD allele and maternal 11p15, leading to the predominant but now not exclusive pattern of disease inheritance after paternal SDHD transmission.