Advanced fumarate hydratase-deficient renal cell carcinoma responding to combination immune checkpoint inhibitors.

Fumarate hydratase deficient (FHdef) renal cell carcinoma (RCC) is rare, highly aggressive and is believed to arise mostly in the setting of hereditary leiomyomatosis RCC (HLRCC) syndrome with a germline mutation of fumarate hydratase (FH) gene. There is currently little evidence regarding the most effective systemic treatment for advanced FHdef RCC. We present three cases of metastatic FHdef RCC, all achieving tumor response with combination immunotherapy ipilimumab and nivolumab (Ipi/Nivo). A 50-year-old male, a 27-year-old male and a 48-year-old female. The clinical features, diagnosis and medical imaging are reviewed.

18F-FDG PET, contrast CT and MRI to comprehensively diagnose and assess rare perineural spread of squamous cell carcinoma to the greater auricular nerve.

We present a case of a 78-year-old male with a primary parotid squamous cell carcinoma which spread via the left facial, trigeminal and greater auricular nerves. The patient presented with left facial droop and paraesthesia. Initial MRI scans demonstrated involvement of the trigeminal and facial nerves with no sign of a primary lesion. Abnormal enhancement within the left parotid substance on FDG PET-CT demonstrated the primary malignancy which was confirmed on histology by core biopsy. There was also focal avidity along the course of the left greater auricular nerve consistent with perineural infiltration, extending from the posterior aspect of the parotid to the left cervical plexus at C2/C3. To our knowledge, this is the second case of squamous cell carcinoma perineural spread to the greater auricular nerve imaged on FDG PET-CT scanning. This case highlights the importance of multimodality imaging correlation in the workup of primary head and neck malignancies and associated perineural spread, which is essential in adjuvant radiation therapy planning to reduce local recurrence, improve prognosis and overall survival.

Mammography as a screening tool for diabetes.

BACKGROUND: This large retrospective study investigates the relationship between breast arterial calcifications (BAC) identified on screening mammography and the presence of DM, thereby evaluating the utility of screening mammography as an additional screening tool for diabetes. MATERIALS AND METHODS: The screening mammograms of 1000 women were prospectively evaluated for BAC; women with a prior history of DM or CAD were excluded. This screening group was compared with all diabetic women who had undergone routine mammographic screening at our institution. The relationship between BAC and DM was statistically evaluated. RESULTS: Of the 1000 women prospectively evaluated, we identified 819 women without a history of either DM or CAD. Of these 819 women, mammographic BAC was identified in 86 for a baseline incidence of BAC in our screening population of 10%. We identified 790 diabetic women who had undergone screening mammograms at our institution, and BAC was identified in 288 (36.45%). The incidence of vascular calcifications was significantly higher in the DM group (P<0.001) than in the screening group, irrespective of age. Stratifying by age group, we identified a significant relationship between BAC and DM (CMH test P<0.001). The estimated odds ratio of having diabetes if BAC is present is compared with BAC being absent is 4.5 (95% confidence interval (3.2, 6.1). CONCLUSIONS: BAC identified on routine screening mammography can identify a group of women at high risk for diabetes. Prospective studies are currently underway at our institution to confirm the utility of screening mammography as a screening tool for diabetes.

Differentiating adrenal adenomas from nonadenomas using (18)F-FDG PET/CT: quantitative and qualitative evaluation.

RATIONALE AND OBJECTIVES: We sought to assess the ability of (18)F-fluoro-2-deoxy-d-glucose (FDG) PET/CT to distinguish adrenal adenomas from nonadenomas in patients with suspected malignancy. METHODS: Fifty-nine adrenal masses were evaluated with coregistered (18)F-FDG PET (PET/CT). Two reviewers independently graded uptake of (18)F-FDG by visual inspection of the adrenal mass in comparison to liver and background. CT attenuation value of the adrenal mass and the standardized uptake value (SUV) of the mass, liver, background, and primary neoplasm (when visible) were measured. Mean SUVs of the adrenal mass, liver, and background and ratios of the SUVs were calculated. RESULTS: Of 47 adenomas, 43 measured <10 HU on unenhanced CT. Of 12, 12 nonadenomas measured >10 HU on unenhanced CT. Using qualitative assessment of FDG activity in the adrenal mass compared with liver, adenomas were less than, equal to, or more active than the liver in 51%, 38%, and 10%, respectively. Nonadenomas were less than, equal to, or more active than liver in 0%, 25%, and 75%, respectively. The mean SUV of adenomas (4.2) was significantly lower (P = .002) than that of their primary malignancies (9.2) but not that of liver (4.3). The mean SUV of adenomas was not significantly different than that of nonadenomas (5.2), but the mean adrenal/liver ratio (1.0) for the adenomas was significantly lower (P = .006) than that of the nonadenomas (2.1). CONCLUSION: Adrenal adenomas were better differentiated from nonadenomas using unenhanced CT measurements in combination with ratios of the SUVs. Adrenal mass activity, which was visibly less than liver, was more specific for adenoma, whereas adrenal mass activity visibly greater than liver was more specific for malignancy.

Focal hepatic activity during ventilation-perfusion scintigraphy due to systemic-portal shunt due to superior vena cava obstruction from histoplasmosis-induced fibrosing mediastinitis.

A 59-year-old woman with a history of fibrosing mediastinitis secondary to histoplasmosis diagnosed on mediastinoscopy presented with dyspnea. A ventilation-perfusion scan demonstrated decreased perfusion to the entire right lung. In addition, the perfusion images demonstrated focal abnormal activity in part of the liver. On computed tomography of the chest, there was significant soft tissue opacification in the mediastinum occluding the right pulmonary artery, with passage of the injected contrast via collateral vessels to the liver. The main collateral pathway was via the right internal thoracic vein and the umbilical vein. Pulmonary angiography confirmed complete occlusion of the right pulmonary artery.

Use of [18F]fluorodeoxyglucose positron emission tomography in evaluating locally recurrent and metastatic adrenocortical carcinoma.

CONTEXT: Adrenocortical carcinomas are uncommon, and their evaluation by [(18)F]fluorodeoxyglucose positron emission tomography (FDG PET) has not been well evaluated. OBJECTIVE: The purpose of this study was to examine the potential utility of FDG PET in the detection of recurrent or metastatic adrenocortical carcinoma. DESIGN: In patients with known adrenocortical carcinoma who underwent FDG-PET imaging for suspected recurrence or metastasis, FDG activity was compared with other imaging findings, clinical features, and the presence or absence of disease as confirmed by resection, biopsy, or clinical follow-up. SETTING: The study took place at four tertiary referral centers. PATIENTS OR OTHER PARTICIPANTS: Twelve patients (10 females and two males, 5-71 yr of age) were evaluated. MAIN OUTCOME MEASURES: The main outcome measures were FDG activity, other imaging findings, and clinical features. RESULTS: Abnormal FDG uptake correctly indicated tumor recurrence in 10 patients. One patient with no abnormal FDG activity had a morphological abnormality subsequently proven to be a postoperative scar. Two patients, one with very small pulmonary lesions and one with a hepatic metastasis, had false-negative findings. CONCLUSIONS: Most adrenocortical carcinomas accumulate and retain FDG and thus can be visualized by PET. However, false-negative findings are possible, especially with very small lesions.

Differentiation between carcinoid and sarcoid with F-18 FDG PET and In-111 pentetreotide.

A patient who presented with weight loss and recurrent left lower lobe pneumonia was diagnosed with endobronchial carcinoid. Chest CT scan demonstrated extensive mediastinal and hilar lymphadenopathy suggesting stage IIIB disease, but radionuclide imaging with In-111 pentetreotide and F-18 FDG PET diagnosed 2 distinct pathologic processes based on functional differences between neuroendocrine tumors (expressing somatostatin receptors) and sarcoidosis (intensely FDG-avid). The possible association of carcinoid with sarcoidosis and sarcoid-like reactions in regional lymph nodes should always be considered, and the staging process should include both anatomic and functional imaging and biopsy confirmation of suspected metastatic lesions.

Amiodarone-induced hyperthyroidism in a patient with functioning papillary carcinoma of the thyroid and extensive hepatic metastases.

Thyroid hormone producing thyroid carcinoma is an uncommon cause of thyrotoxicosis. A patient with extensive hepatic metastases from well-differentiated carcinoma is presented. Administration of amiodarone for atrial fibrillation led to the development of hyperthyroidism. Precipitation of thyrotoxicosis by iodine-containing compounds in patients with thyroid carcinoma is rare. The relatively high iodine load and the slow elimination of amiodarone complicate the clinical management of such patients.

Mediastinal histoplasmosis: F-18 FDG PET and CT findings simulating malignant disease.

We describe the computed tomography and F-18 FDG PET findings of a patient with extensive mediastinal nodal enlargement resulting from histoplasmosis. This patient with known metastatic melanoma presenting for restaging was initially considered to have widespread mediastinal and cervical metastases on the basis of the imaging findings. Bronchoalveolar lavage fluid and transbronchial lymph node biopsy were consistent with histoplasmosis. The imaging findings improved after treatment with antifungal medication. A relatively small area of pulmonary involvement proved to be the clue in the imaging studies that the disease was inflammatory rather than neoplastic.

Pigmented villonodular synovitis and giant cell tumor of the tendon sheath: scintigraphic findings in 10 cases.

The purpose of this report was to determine the pattern of thallium (T1-201) uptake in pigmented villonodular synovitis (PVNS) and giant cell tumor of the tendon sheath (GCTTS) and to evaluate for features that might help to distinguish these lesions from malignant disease. Scintigraphic images from patients subsequently found to have pigmented villonodular synovitis confirmed by histopathologic analysis were assessed. The patients had been evaluated with T1-201 scintigraphy for a suspicious musculoskeletal lesion. All 6 patients with PVNS had significant T1-201 uptake on the early images with retention on the delayed images. The T1-201 activity was in a juxta-articular location and generally conformed to the synovial cavity with scattered irregular nodular components. Of 4 cases of giant cell tumor of the tendon sheath, all had T1-201 uptake on the early images, and 3 cases (75%) also had uptake on the delayed images. T1-201 uptake is observed almost invariably in pigmented villonodular synovitis on both early and delayed images and can simulate the findings of malignant disease. Features that should raise suspicion of PVNS include close proximity to a joint, especially with distribution corresponding to that of the synovial cavity. When T1-201 activity is detected in a lesion in the hand or foot, giant cell tumor of the tendon sheath should be considered. Magnetic resonance imaging will often aid in the differentiation by demonstrating features of hemosiderin degradation products.

Vascular calcifications on screening mammography identify women with increased risk of coronary artery disease and diabetes.

BACKGROUND: Mammographic breast arterial calcifications (BAC) have been reported in women with diabetes and coronary artery disease (CAD). This prospective study further investigates the clinical significance of BAC, CAD, and diabetes. METHODS: Women undergoing screening mammography were prospectively evaluated for mammographic BAC. The association among BAC, CAD, and diabetes was statistically evaluated. RESULTS: Of 1,000 consecutive women undergoing screening mammography, 181 had a history of CAD and/or diabetes. Of those women without diabetes or heart disease, 86 of 819 (10.5%) had BAC. One hundred forty women had diabetes, of whom 57 (40.7%) had BAC, and 72 women had CAD, of whom 36 (50%) had BAC. The association among BAC, CAD, and diabetes was highly significant (P <.0001, 95% confidence interval [CI]). The odds ratio of having diabetes or CAD with BAC is 4.3 and 3.6 times greater than the odds of having these diseases without BAC. COMMENTS: This large prospective study indicated a significant association between BAC identified on screening mammography and a personal history of CAD and diabetes, indicating that screening mammography may identify women at increased risk for these diseases.

Mammography as a screening tool for coronary artery disease.

BACKGROUND: The leading cause of death in women over 40 y old is coronary artery disease (CAD) followed by cancer. This large retrospective study investigates the relationship between mammographic benign arterial calcifications (BAC) and a history of CAD to determine if mammography is a suitable screening tool for CAD. METHODS: To determine the incidence of BAC in our general screening population, we prospectively studied 1000 consecutive women undergoing screening mammography. We retrospectively identified a population of women with known CAD who had undergone screening mammography as our study group. These groups were compared according to age and the significance of BAC in each group was statistically evaluated using the Cochran-Mantel-Haenszel test and Cochran-Armitage test for trend. RESULTS: We prospectively evaluated the mammograms of 819 women with no history of diabetes or CAD. Eighty-six women had mammographic BAC for a baseline BAC incidence of 10.5%. We identified 395 women with CAD and 193 (49%) of these women had BAC. Vascular calcifications significantly increased with age (P < 0.0001) in both groups. Stratifying by age, women with CAD had a significant increase in BAC compared with women undergoing routine screening (P < 0.0001). The odds ratio of having CAD when BAC are present on screening mammography compared with having CAD when BAC are not present is 6.2 (95% confidence interval estimate 4.3-8.8). CONCLUSIONS: This preliminary study indicates that across age groups, the odds of having CAC are approximately 6.2 times greater if BAC are present compared with women without BAC indicating that mammography may be a useful screening tool for CAD.