Wataru Tokuyama

Round cell liposarcoma arising in the left foot: MRI and PET findings.

Liposarcomas are one of the most common soft-tissue sarcomas and commonly arise in the deep soft tissues of the extremities and retroperitoneum; however, the occurrence of liposarcomas in the foot or ankle is exceedingly rare. In this article, we present a 52-year-old man with round cell liposarcoma arising in the left foot. This tumor presented unusual manifestations of secondary osseous involvement in the metatarsal and tarsal bones of the left foot and solitary lymph node metastasis at the para-aortic region. Magnetic resonance imaging (MRI) and [18F]-fluoro-deoxy-glucose positron emission tomography computed tomography (FDG PET–CT) evaluation was considered to be useful for tumor grading and staging in this case.

Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation

Tangier disease, characterized by low or absent high-density lipoprotein (HDL), is a rare hereditary lipid storage disorder associated with frequent, but not obligatory, severe premature atherosclerosis due to disturbed reverse cholesterol transport from tissues. The reasons for the heterogeneity in atherogenicity in certain dyslipidemias have not been fully elucidated. Here, using high-performance liquid chromatography with a gel filtration column (HPLC-GFC), we have studied the lipoprotein profile of a 17-year old male patient with Tangier disease who to date has not developed manifest coronary atherosclerosis. The patient was shown to be homozygous for a novel mutation (Leu1097Pro) in the central cytoplasmic region of ATP-binding cassette transporter A1 (ABCA1). Serum total and HDL-cholesterol levels were 59mg/dl and 2mg/dl, respectively. Lipoprotein electrophoretic analyses on agarose and polyacrylamide gels showed the presence of massively abnormal lipoproteins. Further analysis by HPLC-GFC identified significant amounts of lipoproteins in low-density lipoprotein (LDL) subfractions. The lipoprotein particles found in the peak subfraction were smaller than normal LDL, were rich in triglycerides, but poor in cholesterol and phospholipids. These findings in an adolescent Tangier patient suggest that patients in whom these triglyceride-rich, cholesterol- and phospholipid-poor LDL-type particles accumulate over time, would experience an increased propensity for developing atherosclerosis.

Levels of soluble LR11/SorLA are highly increased in the bile of patients with biliary tract and pancreatic cancers.

BACKGROUND The utility of molecules derived from cancer cells as biomarkers of the pathological status in biliary tract and pancreatic cancers is still limited. Soluble LDL receptor relative with 11 ligand-binding repeats (sLR11), a molecule released from immature cells, has been shown to be a circulating biomarker for early stage hematological malignancies. METHODS We have evaluated the pathological significance of bile sLR11 levels in 147 samples from 72 patients with biliary tract cancer (BTC), pancreatic cancer (PC), or benign diseases. RESULTS The bile sLR11 levels in the cancer patients were significantly increased compared with those in patients without cancer, independent of cytological detection of cancer cells in bile. The average bile sLR11 levels in cancer patients were significantly higher than in those with benign diseases, while levels of bile carbohydrate antigen 19-9 (CA19-9) and carcinoembryonic antigen (CEA) were not different. LR11 protein was found to be highly expressed in the BTC and PC cells. The LR11 transcript levels in cholangiocarcinoma and pancreatic cancer cell lines were sharply induced during proliferation and significantly increased under hypoxic conditions. CONCLUSIONS Therefore, sLR11 levels in bile may be indicative of cancer cell conditions and may serve as potential novel biomarker in patients with BTC and PC.

Primary retroperitoneal mucinous cystic tumors with borderline malignancy: a case report and literature review

Primary retroperitoneal mucinous cystic tumors with borderline malignancy are rarely encountered. To date, only 12 cases have been reported in the literature. In this report, we present an additional case. A 65-year-old nulliparous woman complained of abdominal fullness. Her medical history included a hysterectomy and a single salpingo-oophorectomy performed 25 years prior to the present event. Physical examination revealed a large cystic mass in the abdomen and pelvis. During laparotomy, a cystic tumor measuring 21×14 cm in size was observed in the left retroperitoneal space. The tumor was resected, and the final diagnosis was primary retroperitoneal mucinous cystic cancer with borderline malignancy.

Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Mucosa-associated Lymphoid Tissue Lymphoma

Syndrome of inappropriate antidiuretic hormone secretion (SIADH) may develop in association with several malignancies. However, as an immunohistochemical analysis is not performed in the majority cases, its true cause is often uncertain. We herein report a case of SIADH following chemotherapy due to tumor-derived ADH production in a patient with mucosa-associated lymphoid tissue (MALT) lymphoma. A retrospective immunohistochemical analysis demonstrated ADH expression by lymphoma cells. These findings highlight the importance of using an immunohistochemical analysis to determine ADH production by tumor cells in patients with SIADH. Such analyses play an important role in elucidating the pathogenesis of SIADH and determining the most appropriate treatment.

Neuronal intranuclear inclusion disease with leukoencephalopathy and light motor-sensory and autonomic neuropathy diagnosed by skin biopsy.

Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disorder characterized by eosinophilic hyaline inclusions which are widely observed in neuronal and somatic cells [1–3]. Familial and sporadic cases are reported. Clinically, the disease occurs in children and adult with any combination of progressive dementia, cerebellar ataxia and motorsensory and autonomic neuropathy. In 2011 skin biopsy proved helpful as antemortem diagnostic tool, showing intranuclear inclusions in the dermal cells [4]. Since then, several NIID cases have been reported by skin biopsy [5]. Here we add a case of NIID by skin biopsy, who presented with leukoencephalopathy [2–5] with high signal intensity linear lesion in the corticomedullary junction by diffusion-weighted imaging (DWI) magnetic resonance imaging (MRI) scan [4,5], together with light motor-sensory and autonomic neuropathy [3,6]. A 58-year-old, previously healthyman began to have staggering gait onwalking stairways andmildmemory problem3 years ago. He did not drink alcohol nor have any history of medical illness. For the past one week, he was in poor nutrition because of his social problem. He was found to be unconscious, which brought him to our hospital and admitted as emergency. He had no family history. On admission, he regained consciousness completely, but suspected to have retrograde amnesia for half a day. His body temperature (36.8 degree Celsius), blood pressure (14/90 mmHg), heart rate (66/min) and oxygen saturation (99%, in room air) were normal. His general condition was normal except for gout in his left toes. He was alert and cooperative. However, the MiniMental State Examination (MMSE) Score was 21 (normal N24/30), the Frontal Assessment Battery score was 13 (normal N16/18), and total intelligent quotient in theWechsler Adult Intelligence Scale was 78 (normal N90). He had no apparent aphasia or apraxia. Cranial nerves were normal. He had no motor paresis. He had no tremor or rigidity. Deep tendon reflexes were normal except for a decrease in the lower extremities. His sensations were normal for pin prick, position and vibration. His coordination was normal in the four extremities, and he had no ataxia in speech. However, he had wide-based, staggering and shortstepped gait, and his Romberg test was positive. Blood chemistry, sugar and urinalysis were normal except for increased uric acid of 9.9 mg/dl (normal b7.0 mg/dl) and increased C-reactive protein of 6.27 mg/dl (normal b0.1 mg/dl). Although we did not perform the

Atypical Distribution of Late Gadolinium Enhancement of the Left Ventricle on Cardiac Magnetic Resonance in Classical Anderson-Fabry Disease

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. Approximately 50% of patients with AFD may have cardiac involvement. Gadolinium-enhanced cardiac magnetic resonance (CMR) is useful for the diagnosis of cardiac involvement of AFD by recognizing typical late gadolinium enhancement (LGE) patterns. We report a 48-year-old man with cardiac involvement in classical AFD, showing atypical distribution of the LGE at the mid-lateral wall of left ventricle, predominantly apical segments without basal involvement on gadolinium-enhanced CMR.