Many tissues, including hepatobiliary cells, express neutral endopeptidase (CD10), encoded by MME. Serum neutral endopeptidase activity (NEA) has been recommended as a marker of cholestasis in adults but not in children with Alagille syndrome (AGS). We investigated ontogenic and disease-related differences in the expression of CD10. CD10 was found on canalicular surfaces of hepatocytes throughout the lobule in 16 adults and in 31 children aged Z24 months, with and without cholestasis, but not in 39 children aged o24 months, with and without cholestasis. Ten AGS children aged 2 months to 6 years lacked any canalicular CD10 expression. Cholangiocyte apices and/or intrasinusoidal granulocytes marked for CD10 in all subjects. Liver membrane fractions from a child with cholestasis aged o24 months and from 2 AGS patients aged 424 months contained reduced levels of CD10. In contrast, AGS children and all controls expressed CD10 similarly on granulocytes. MME mRNA was found in the liver of children aged o24 months and of adults, all with cholestasis, and of AGS patients. Granulocyte MME mRNA levels were similar among all study subjects; however, liver MME mRNA levels were 6-to 140-fold less than in normal adults in all cholestatic subjects, including AGS children. Methylation of the MME promoter was not detected in the liver of AGS children. In conclusion, hepatocytes in early childhood physiologically lack immunohistochemically detectable CD10. Reduced MME mRNA in AGS is not due to MME promoter methylation. Liver CD10 in childhood appears to undergo reduced synthesis or rapid degradation, which persists in AGS. Absence of CD10 expression thus may limit NEA as a marker of cholestasis in young patients and in AGS.
A 37-year-old Polish immigrant presented with unilateral hip pain and difficulty weight-bearing. Plain radiography and magnetic resonance imaging (MRI) revealed a lytic lesion in the acetabulum, with abnormal serum electrophoresis and bone marrow biopsy. The patient was diagnosed with two rare conditions presenting synchronously - Gaucher disease and plasmacytoma. He was treated with enzyme therapy and radiotherapy, but subsequently developed a recurrence of plasmacytoma in the right femur, confirmed with bone marrow biopsy. This was also treated with radiotherapy, followed by a retrograde femoral nail to reduce the risk of pathological fracture. The patient went on to develop multiple lytic lesions in the ribs and vertebra, seen on MRI. Further bone marrow biopsy confirmed dissemination of the plasmacytoma into multiple myeloma, for which he was treated with systemic chemotherapy. In patients presenting with refractory bone or joint pain, haematological and histological investigations should be considered to exclude less common diagnoses.
Pseudoangiomatous stromal hyperplasia (PASH) is a rare, benign breast lesion that is usually discovered as an incidental finding in breast biopsies. We present a case report of a twenty three-year-old female who presented with a large central mass in the left breast 24 weeks into her pregnancy. An ultrasound-guided core biopsy was performed which was reported as a lactational adenoma and due to the significant size of the mass it was excised as a suspected giant lactational adenoma. The ultrasound appearance was of a mass with well-defined superficial and radial margins with multiple large gentle lobulations, and a thin echogenic pseudocapsule pointing towards a benign diagnosis. Multiple prominent internal vessels were visualised on doppler imaging; PASH lesions do not commonly have internal blood flow which therefore pointed away from the diagnosis in this case. It is likely the imaging features were confounded by the pregnant state. Macroscopically, the lesion consisted of a large lobulated red mass measuring 170 x 170 x 75 mm and weighing 838 g with a central area containing yellow cream-like material measuring 25 x 20 mm. Microscopically, the breast tissue showed prominent gynaecomastoid-like lobules with intervening oedematous stroma showing florid pseudoangiomatous hyperplasia. There was prominent but only patchy lactational change. PASH can often be an incidental finding and is commonly found in combination with other diagnoses. It is therefore possible for PASH to be overlooked in biopsy specimens, as in this case, and it is important to analyse the breast stroma carefully for evidence of PASH, even if the biopsy contains an alternative lesion that could account for the mass seen clinically. We feel this case highlights the potential for PASH to be overlooked in core biopsy specimens when a concurrent lesion is present and therefore not appropriately treated.
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