Manoel de Souza Rocha

Renal Cell Carcinoma: T1 and T2 Signal Intensity Characteristics of Papillary and Clear Cell Types Correlated with Pathology

OBJECTIVE The objective of our study was to describe the T1 and T2 signal intensity characteristics of papillary renal cell carcinoma (RCC) and clear cell RCC with pathologic correlation. MATERIALS AND METHODS Of 539 RCCs, 49 tumors (21 papillary RCCs and 28 clear cell RCCs) in 45 patients were examined with MRI. Two radiologists retrospectively and independently assessed each tumors T1 and T2 signal intensity qualitatively and quantitatively (i.e., the signal intensity [SI] ratio [tumor SI / renal cortex SI]). Of the 49 tumors, 37 (76%) were assessed for pathology features including tumor architecture and the presence of hemosiderin, ferritin, necrosis, and fibrosis. MRI findings and pathology features were correlated. Statistical methods included summary statistics and Wilcoxons rank sum test for signal intensity, contingency tables for assessing reader agreement, concordance rate between the two readers with 95% CIs, and Fishers exact test for independence, all stratified by RCC type. RESULTS Papillary RCCs and clear cell RCCs had a similar appearance and signal intensity ratio on T1-weighted images. On T2-weighted images, most papillary RCCs were hypointense (reader 1, 13/21; reader 2, 14/21), with an average mean signal intensity ratio for both readers of 0.67 +/- 0.2, and none was hyperintense, whereas most clear cell RCCs were hyperintense (reader 1, 21/28; reader 2, 17/28), with an average mean signal intensity ratio for both readers of 1.41 +/- 0.4 (p < 0.05). A tumor T2 signal intensity ratio of < or = 0.66 had a specificity of 100% and sensitivity of 54% for papillary RCC. Most T2 hypointense tumors exhibited predominant papillary architecture; most T2 hyperintense tumors had a predominant nested architecture (p < 0.05). CONCLUSION On T2-weighted images, most papillary RCCs are hypointense and clear cell RCCs, hyperintense. The T2 hypointense appearance of papillary RCCs correlated with a predominant papillary architecture at pathology.

ARMC5 Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia

CONTEXT Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushings syndrome, usually characterized by functioning adrenal macronodules and increased cortisol production. Familial clustering of PMAH has been described, suggesting an inherited genetic cause for this condition. OBJECTIVE The aim of the present study was to identify the gene responsible for familial PMAH. PATIENTS AND METHODS Forty-seven individuals of a Brazilian family with PMAH were evaluated. A single-nucleotide polymorphism-based genome-wide linkage analysis followed by whole-exome sequencing were then performed in selected family members. Additionally, 29 other patients with PMAH and 125 randomly selected healthy individuals were studied to validate the genetic findings. Moreover, PMAH tissue was also analyzed through whole-exome sequencing, conventional sequencing, and microsatellite analysis. RESULTS A heterozygous germline variant in the ARMC5 gene (p.Leu365Pro) was identified by whole-exome sequencing in a candidate genomic region (16p11.2). Subsequently, the same variant was confirmed by conventional sequencing in all 16 affected family members. The variant was predicted to be damaging by in silico methods and was not found in available online databases or in the 125 selected healthy individuals. Seven additional ARMC5 variants were subsequently identified in 5 of 21 patients with apparently sporadic PMAH and in 2 of 3 families with the disease. Further molecular analysis identified a somatic mutational event in 4 patients whose adrenal tissue was available. CONCLUSIONS Inherited autosomal dominant mutations in the ARMC5 gene are a frequent cause of PMAH. Biallelic inactivation of ARMC5 is consistent with its role as a potential tumor suppressor gene.

Radial Endoscopic Ultrasound and Spiral Computed Tomography in the Diagnosis and Staging of Periampullary Tumors

Background and Study Aims: The early detection and accurate staging of pancreatic and ampullary cancer is of utmost importance for the achievement of surgical radical treatment. The aim of this study was to assess prospectively the role of endoscopic ultrasonography (EUS) in detection and staging of pancreatic and ampullary cancer, comparing its results to those obtained with spiral computed tomography (SCT). Patients and Methods: Sixty-one patients with suspected pancreatic and ampullary tumors were included, 46 (75, 4%) of whom presented with obstructive jaundice. Patients underwent EUS and SCT within a 7-day period. Examiners were unaware of the previous imaging results, except conventional echography. Image interpretation was compared to surgical and histopathological findings. Results: Fifty-six (91, 8%) patients were surgically explored. Clinical follow-up and/or tissue diagnosis determined the correct diagnosis in the remaining five patients. Pancreatic cancer and ampullary cancer were observed in 29 (47, 6%) and 10 (16, 4%) patients, respectively. Chronic pancreatitis and choledocholithiasis were the most common diagnosis in patients with non-neoplastic disease. EUS was more effective than SCT for the definition of the final diagnosis in patients with obstructive jaundice (87.0 vs. 67.4%, p = 0.04). Both exams were equally effective for detecting pancreatic cancer but EUS predicted more accurately the involvement of portal-mesenteric axis by the tumor (87.0 vs. 67.4%, p = 0.04). EUS was particularly useful in the diagnosis of cancer of papilla of Vater. Conclusion: In patients with pancreatic adenocarcinoma without unequivocal signs of distant metastatic disease, EUS is more accurate than SCT to predict venous involvement by the tumor. EUS is superior to SCT to detect ampullary adenocarcinoma. Both methods are equally ineffective to detect nodal involvement in pancreatic and ampullary cancer.

Penetrance of functioning and nonfunctioning pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 in the second decade of life.

CONTEXT Data are scarce on the penetrance of multiple endocrine neoplasia type 1 (MEN1)-related nonfunctioning pancreatic neuroendocrine tumors (NF-PETs) and insulinomas in young MEN1 patients. A potential positive correlation between tumor size and malignancy (2-3 cm, 18%; >3 cm, 43%) has greatly influenced the management of MEN1 adults with NF-PETs. OBJECTIVE The aim of the study was to estimate the penetrance of NF-PETs, insulinomas, and gastrinomas in young MEN1 carriers. DESIGN The data were obtained from a screening program (1996-2012) involving 113 MEN1 patients in a tertiary academic reference center. PATIENTS Nineteen MEN1 patients (aged 12-20 y; 16 patients aged 15-20 y and 3 patients aged 12-14 y) were screened for NF-PETs, insulinomas, and gastrinomas. METHODS Magnetic resonance imaging/computed tomography and endoscopic ultrasound (EUS) were performed on 10 MEN1 carriers, magnetic resonance imaging/computed tomography was performed on five patients, and four other patients underwent an EUS. RESULTS The overall penetrance of PETs during the second decade of life was 42% (8 of 19). All eight PET patients had NF-PETs, and half of those tumors were multicentric. One-fifth of the screened patients (21%; 4 of 19) harbored at least one large tumor (>2.0 cm). Insulinoma was detected in two NF-PET patients (11%) at the initial screening; gastrinoma was not present in any cases. Six of the 11 (54%) screened patients aged 15-20 years who underwent an EUS had NF-PETs. Potential false-positive EUS results were excluded based on EUS-guided biopsy results, the reproducibility of the NF-PET findings, or the observation of increased tumor size during follow-up. Distal pancreatectomy and the nodule enucleation of pancreatic head tumors were conducted on three patients with large tumors (>2.0 cm; T2N0M0) that were classified as grade 1 neuroendocrine tumors (Ki-67<2%). CONCLUSIONS Our data demonstrated high penetrance of NF-PETs in 15- to 20-year-old MEN1 patients. The high percentage of the patients presenting consensus criteria for surgery for NF-PET alone or NF-PET/insulinoma suggests a potential benefit for the periodic surveillance of these tumors in this age group.

Helminthic Diseases in the Abdomen: An Epidemiologic and Radiologic Overview

Helminthic diseases have a worldwide distribution. They affect billions of people in endemic areas and can result in serious clinical complications. Some parasites have a human gastrointestinal life cycle with resultant abdominal manifestations. However, the symptoms of helminthic diseases are usually nonspecific. Radiologic imaging, along with the identification of risk factors, may help narrow the differential diagnosis. To avoid diagnostic delays, radiologists should be familiar with the geographic distribution, transmission cycle, and characteristic and atypical manifestations of common helminthic diseases at abdominal imaging with radiography, computed tomography, magnetic resonance imaging, and ultrasonography. Awareness of the clinical, epidemiologic, and pathogenic characteristics of these diseases also may be helpful for narrowing the diagnosis when imaging features are nonspecific.

Multidetector CT Evaluation of the Postoperative Pancreas

Several pancreatic diseases may require surgical treatment, with most of these procedures classified as resection or drainage. Resection procedures, which are usually performed to remove pancreatic tumors, include pancreatoduodenectomy, central pancreatectomy, distal pancreatectomy, and total pancreatectomy. Drainage procedures are usually performed to treat chronic pancreatitis after the failure of medical therapy and include the Puestow and Frey procedures. The type of surgery depends not only on the patients symptoms and the location of the disease, but also on the expertise of the surgeon. Radiologists should become familiar with these surgical procedures to better understand postoperative changes in anatomic findings. Multidetector computed tomography is the modality of choice for identifying normal findings after surgery, postoperative complications, and tumor recurrence in patients who have undergone pancreatic surgery.

Abdominal ultrasonography in hepatolenticular degeneration: a study of 33 patients

The ultrasonographic study of 33 patients with hepatolenticular degeneration showed the following main changes: disorders of the hepatic echotexture (29 cases), changes of the splenic dimensions (21), liver shrinkage (10), cholelithiasis (8), hepatomegaly and ascites (1). The disorders of liver echotexture exhibited different patterns, from slight to severe changes of the hepatic echogenicity, associated with anatomic distortions of the liver, such as alterations of outline and decrease of dimensions. Liver shrinkage was always accompanied by splenomegaly. The scarcity of hepatomegaly may be explained by the fact that the ultrasonography was performed after the onset of treatment with penicillamine, or by other factors still unknown, copper perhaps possessing a stronger fibrogenetic action than other hepatotoxic agents. Cholelithiasis was very frequent in females (6 of 13 patients), its incidence tending to increase with age. Regarding males there was no increase when the incidence was compared to the general population. The two sole males were young, an unusual finding in normal men.

Treatment by splenectomy of a portal vein aneurysm in hepatosplenic schistosomiasis

Portal vein aneurysm is a rare medical entity that can be caused by chronic hepatic diseases with portal hypertension. We describe a 45-year-old man with variceal bleeding from hepatosplenic schistosomiasis and an incidentally found intrahepatic aneurysm. Diagnosis was confirmed with non-invasive imaging exams, arteriography and liver biopsy. Following splenectomy, the aneurysm diameter decreased substantially.

Clinical and pathological evaluation of fibrolamellar hepatocellular carcinoma: a single center study of 21 cases

OBJECTIVES: Fibrolamellar hepatocellular carcinoma is a rare primary malignant liver tumor that differs from conventional hepatocellular carcinoma in several aspects. The aim of this study was to describe the clinical, surgical and histopathological features of fibrolamellar hepatocellular carcinoma and to analyze the factors associated with survival. METHODS: We identified 21 patients with histopathologically diagnosed fibrolamellar hepatocellular carcinoma over a 22-year period. Clinical information was collected from medical records and biopsies, and surgical specimens were reviewed. RESULTS: The median age at diagnosis was 20 years. Most patients were female (67%) and did not have associated chronic liver disease. Most patients had a single nodule, and the median tumor size was 120 mm. Vascular invasion was present in 31% of patients, and extra-hepatic metastases were present in 53%. Fourteen patients underwent surgery as the first-line therapy, three received chemotherapy, and four received palliative care. Eighteen patients had “pure fibrolamellar hepatocellular carcinoma,” whereas three had a distinct area of conventional hepatocellular carcinoma and were classified as having “mixed fibrolamellar hepatocellular carcinoma.” The median overall survival was 36 months. The presence of “mixed fibrolamellar hepatocellular carcinoma” and macrovascular invasion were predictors of poor survival. Vascular invasion was associated with an increased risk of recurrence in patients who underwent surgery. CONCLUSION: Fibrolamellar hepatocellular carcinoma was more common in young female patients without chronic liver disease. Surgery was the first therapeutic option to achieve disease control, even in advanced cases. Vascular invasion was a risk factor for tumor recurrence. The presence of macrovascular invasion and areas of conventional hepatocellular carcinoma were directly related to poor survival.

Spectrum of abdominal imaging findings in histiocytic disorders

ObjectivesThe present article provides an overview of the spectrum of abdominal findings of histiocytic disorders that may be observed in multimodality imaging illustrated by clinical cases from our Imaging Center.MethodsWe will review abdominal findings of Langerhans cell histiocytosis, Rosai–Dorfman disease, Erdheim–Chester disease, and hemophagocytic syndrome illustrated by clinical cases from our imaging department with histologic correlation.ResultsAbdominal involvement of histiocytic disorders is rare and may occur in the liver, biliary tract, kidney, retroperitoneum, kidney, gastrointestinal tract, and lymph nodes.ConclusionHistiocytic disorders encompass a group of rare diseases with a wide range of manifestations in which the abdominal involvement is quite infrequent. The role of the radiologist is to report the major imaging findings and the differential diagnosis; however, the imaging features are unspecific and biopsy usually is necessary to establish the definitive diagnosis.