Hyperparathyroidism-Jaw Tumor Syndrome Associated With Large-Scale 1q31 Deletion.

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal dominant cause of familial hyperparathyroidism associated with benign, ossifying fibromas of the maxillofacial bones and increased risk of parathyroid carcinoma. The putative tumor suppressor gene CDC73 has been implicated in the syndrome, with a multitude of inactivating mutations identified; however, HPT-JT due to large-scale deletion of the chromosomal region containing the gene is exceedingly rare, and the clinical significance of this variant remains unclear. We report the case of a 32-year-old woman with a history of mandibular ossifying fibroma who presented with primary hyperparathyroidism and was found to harbor a large-scale, germline deletion on chromosome 1q31, including the CDC73 locus. HPT-JT is associated with loss of function of the putative tumor suppressor gene CDC73. Over 100 mutations and small insertions/deletions have been identified within the gene, the majority of which result in premature truncation of the parafibromin protein product. We report a case of HPT-JT associated with a large chromosomal deletion (4.1 Mb) encompassing the CDC73 gene locus. In the future, molecular testing in this autosomal dominant disorder should use techniques that allow for the detection of large-scale deletions in addition to the more commonly observed mutations and smaller-scale copy number alterations. Further investigation is needed to determine whether HPT-JT associated with a large-scale deletion carries increased risk of malignancy relative to the more common truncating mutations and what the implications are for genetic counseling.

Hybrid imaging with 99mTc-WBC SPECT/CT to monitor the effect of therapy in diabetic foot osteomyelitis.

This study sought to assess the utility of monitoring response to treatment of diabetic foot osteomyelitis (DFO) with Tc-99m WBC-labelled single photon emission computed tomography (SPECT/CT) imaging. This is a retrospective cohort study of 20 patients with DFO with sequential Tc-99m WBC-labelled SPECT/CT imaging. Radiologic findings of osteomyelitis were evaluated and imaging results were correlated with clinical outcomes subtracted from chart review. Successful treatment of osteomyelitis was defined by wound healing and/or lack of re-admission for bone infection of the same site within 1 year. The sensitivity, specificity, positive predictive value and negative predictive value of SPECT/CT to determine osteomyelitis treatment remission were 90%, 56%, 69% and 83%, respectively. Tc-99m WBC-labelled SPECT/CT imaging may be useful to help determine treatment outcomes for DFO.

Successful Treatment of a Common Femoral Arterial Pseudoaneurysm with US-Guided Thrombin Injection: A Case Report.

We are presenting a case of a patient who developed a pseudoaneurysm following cardiac catheterization. This is one of the most common complications related to invasive cardiovascular procedures. A pseudoaneurysm forms when an arterial puncture site fails to seal, allowing blood to leak and form a pulsatile hematoma contained by fibromuscular tissues. Color Doppler imaging has been the investigative method of choice for this diagnosis, which demonstrates swirling flow in a mass connected to the parent artery in the neck. The pseudoaneurysm neck shows "to and fro" Doppler waveforms. The treatment options for pseudoaneurysms include ultrasound (US)-guided compression, minimally invasive percutaneous treatments including US-guided thrombin injection, coil embolization and covered stent placement, and open surgical treatment. All of these treatment options have their own advantages and disadvantages, which will be discussed in detail.

Significance of 18F-Fluorodeoxyglucose Uptake at the Gastroesophageal Junction: Comparison of PET to Esophagogastroduodenoscopy.

BACKGROUND: Positron emission tomography-computed tomography (PET/CT) occasionally reveals unexpected uptake of (18)F-fluorodeoxyglucose ((18)F-FDG) at the gastroesophageal junction (GEJ). The aim of this study was to determine the importance of unexpected (18)F-FDG uptake at the GEJ on PET/CT by correlating this finding with endoscopy results. METHODS: We reviewed medical records from June 2009 to October 2012 to identify patients in our Veterans Affairs Medical Center who had an esophagogastroduodenoscopy (EGD) performed within 6 months of a PET/CT. Metabolic activity at the GEJ was quantified with standardized uptake values (SUV) and correlated with EGD and histopathology results. RESULTS: A total of 219 patients were identified and assigned to one of five groups based upon EGD findings: esophageal malignancy (n = 34), esophagitis (n = 21), Barrett's esophagus (n = 8), other non-malignant disorders (n = 5), and normal (n = 151). The mean SUV Max for the groups was 6.72, 2.47, 2.40, 3.48, and 2.06, respectively. SUV Max and SUV Mean were significantly higher in the esophageal malignancy group than in all other groups (p < 0.001). SUV for patients with high-grade esophagitis was greater than in patients with low-grade esophagitis. A SUV Max ≥ 3.5 was found to predict necessity for EGD with a positive predictive value of 79 %. A SUV Max ≤ 2.2 yielded a negative predictive value of 86 %. CONCLUSION: Differentiation between benign and potentially significant disease at the GEJ may be possible with quantification of incidental (18)F-FDG uptake at PET/CT. Our results suggest thresholds that may help determine need for further endoscopic evaluation in patients with abnormal metabolic activity at the GEJ.

Comparison of whole-body versus limited whole-body 18F-FDG PET/CT scan in malignant cutaneous melanoma.

OBJECTIVES: The objectives of this study were to estimate retrospectively the incidence of clinically significant findings in the lower extremities in patients with malignant cutaneous melanoma scanned from the skull vertex to the bottom of the feet and whether these add additional diagnostic and prognostic information and to demonstrate a confidence interval that would support exclusion of lower-extremity scans in these patients. METHODS: This is a retrospective study of 200 patients who underwent (18)F-FDG PET/CT for staging melanoma. Whole-body PET/CT scans including the lower extremities were reviewed. PET/CT findings in the lower extremities were tabulated by location, pathology, and clinical progress notes with documented clinical history and physical examination correlation. RESULTS: Among the 200 PET/CT scans, 3 scans had positive findings in the lower extremities. A biopsy was performed on 1 lesion, which was found to be an incidental squamous cell carcinoma. One lesion was considered a benign finding from inflammation demonstrated by clinical follow-up. One scan had a metastasis to the proximal femur, which is included in the standard FOV (eyes to midthighs). In this case series, the lower extremities' true-positive findings never impacted or changed clinical management. CONCLUSIONS: Our study confirms with a high degree of confidence that in patients with malignant cutaneous melanoma, additional lower-extremity scan results in little additional useful information and could be discontinued in patients whose melanoma did not arise in the lower extremities. PET/CT acquisition of the lower extremities results in increased scan time and unnecessary extra radiation dose from CT to melanoma patients.