A 48-year-old woman presented with a 50-day history of irregular vaginal bleeding and lower abdominal pain. Ultrasound indicated an extremely large occupying lesion in the pelvic cavity that was highly suggestive of malignancy. Fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) was performed to further assess the nature of pelvic abnormality. PET/CT images demonstrated a diffusely lobulated mass ranging from cervix up to the inferior pole of kidneys with mild FDG uptake. Simultaneously, multiple nodules in bilateral lungs and a hypodense lesion in the right ventricle were shown without FDG-avidity. Based on the imaging results, the presumptive diagnosis was uterine intravenous leiomyomatosis with intracardiac extension and pulmonary benign metastases, which was subsequently confirmed by MRI and the lesion biopsy.
Female ; Fluorodeoxyglucose F18/chemistry ; Humans ; Leiomyoma/pathology/radiography ; Leiomyomatosis/pathology/*radiography ; Lung Neoplasms/radiography/*secondary ; Magnetic Resonance Imaging ; Middle Aged ; Positron-Emission Tomography ; Tomography, X-Ray Computed ; Uterine Neoplasms/pathology/radiography ; Vena Cava, Inferior/pathology

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited syndrome. MEN1 is characterized by the presence of functioning and nonfunctioning tumors or hyperplasia of the pituitary gland, parathyroid glands, and pancreatic islet cells. In addition, MEN1 carriers can have adrenal or thyroid tumors and non-endocrine tumors, such as lipomas, angiofibromas, and leiomyomas. Although leiomyoma is not a major component of MEN1, it is thought to occur more frequently than expected. However, there has been no report of a case of MEN1 with leiomyoma in Korea so far. This report describes a patient with multiple leiomyomas in MEN1. A 50-year-old woman was referred for further evaluation of elevated calcium levels and osteoporosis. Biochemical abnormalities included hypercalcemia with elevated parathyroid hormone. There was hyperprolactinemia with pituitary microadenoma in sella MRI. An abdominal MRI demonstrated adrenal nodules and leiomyomas in the bladder and uterus. Endoscopic ultrasonography demonstrated esophageal leiomyoma and pancreatic islet cell tumor. A subtotal parathyroidectomy with thymectomy was performed. Sequencing of the MEN1 gene in this patient revealed a novel missense mutation (D350V, exon 7). This is the first case of MEN1 accompanied with multiple leiomyomas, parathyroid adenoma, pituitary adenoma, pancreatic tumor, and adrenal tumor.
Base Sequence ; Female ; Humans ; Leiomyomatosis/genetics/*metabolism/*pathology/radiography ; Magnetic Resonance Imaging ; Middle Aged ; Multiple Endocrine Neoplasia Type 1/genetics/*metabolism ; Mutation/genetics

BACKGROUNDIntravenous leiomyomatosis is a rare neoplasm, and its cardiac extension is often overlooked or misdiagnosed. The purpose of this study was to explore the imaging features of intravenous leiomyomatosis with cardiac extension, especially the value of magnetic resonance imaging in differential diagnosis.

METHODSBetween July 2005 and August 2008, 4 cases of intravenous leiomyomatosis with cardiac extension were resected in Cangzhou Central Hospital. Three cases had echocardiography performed, two had post contrast scans of CT performed, and two had MRI performed. Between July 2005 and May 2010, 25 cases of histopathologically proven other kinds of tumors involving the inferior vena cava and right atrium were compared for discussion of differential diagnosis.

RESULTSIntravenous leiomyomatosis with cardiac extension demonstrated a hyperechoic elongated mobile mass extending from the inferior vena cava to the right atrium with or without evidence of protruding into the right ventricle on echocardiography. The lesion was enhanced heterogeneously on post contrast scans of CT and was of relatively lower density compared to the enhanced blood in the inferior vena cava and right atrium, with common iliac vein and the ipsilateral internal iliac and ovarian veins involved in some cases. The untreated uterus myoma demonstrated enlargement of the uterus with heterogeneous contrast enhancement. On MRI, the lesion looked like a luffa vegetable sponge on FIESTA coronal images and a sieve pore on T2-weighted axial images. All four tumors were removed successfully, and follow up of one to four years revealed no recurrence. The 25 cases of histopathologically proven other kinds of tumors involving inferior vena cava and right atrium had their own imaging features different from those seen on intravenous leiomyomatosis with cardiac extension. With reference to their medical history, differential diagnosis can often be made.

CONCLUSIONThe imaging appearance of intravenous leiomyomatosis has some unique features, and the luffa vegetable sponge and sieve pore like appearance on MRI may be helpful for differential diagnosis.

Adult ; Echocardiography ; Female ; Heart Neoplasms ; diagnosis ; diagnostic imaging ; Humans ; Leiomyomatosis ; diagnosis ; diagnostic imaging ; Magnetic Resonance Imaging ; methods ; Male ; Middle Aged ; Radiography ; Vascular Neoplasms ; diagnosis ; diagnostic imaging ; Vena Cava, Inferior ; diagnostic imaging ; pathology