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International Journal of Medical Sciences (1)
Journal of Clinical Investigation (1)
Yoffe, B (2)
Alter, M J (1)
Bei, H (1)
Ben-Dor, D. (1)
Dienstag, J L (1)
Feng, C (1)
Genta, R M (1)
Hasegawa, K (1)
Khaoustov, V I (1)
Klintmalm, G B (1)
Kueppers, F (1)
Liang, T J (1)
Maslovsky, I. (1)
McMahon, B J (1)
Munoz, S J (1)
Shapiro, C N (1)
Uriev, L. (1)
Vainshtein, P. (1)
Yoffe, B. (1)
Yoon, D (1)
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Malignant phyllodes tumor with heterologous liposarcomatous differentiation and tubular adenoma-like epithelial component
International Journal of Medical Sciences
Phyllodes tumor of the breast is a biphasic fibroepithelial neoplasm. A 30-year-old woman presented with a 1-year history of a palpable, asymptomatic right breast mass without axillary lymphadenopathy and family history of breast carcinoma. Malignant phyllodes tumor was diagnosed. The authors present not previously described histological appearance of this tumor where an epithelial component was identical to that of a tubular adenoma of the breast, with the review of the literature. This is in addition to very rare liposarcomatous stromal differentiation in the malignant phyllodes tumor.
phyllodes tumor; liposarcoma; tubular adenoma
Role of alpha-1-antichymotrypsin deficiency in promoting cirrhosis in two siblings with heterozygous alpha-1-antitrypsin deficiency phenotype SZ
Genta, R M
Klintmalm, G B
Khaoustov, V I
Background: Alpha-1-antitrypsin (A1AT) deficiency is the most common inherited metabolic disorder with the potential to cause injury in the lung and liver. Recent reports suggested that alpha-1-antichymotrypsin (A1AC) deficiency may also be a possible cause of chronic liver disease. However, it has received little attention and is rarely investigated in the clinical setting.
Aims: To assess the role of A1AC deficiency in the pathogenesis of chronic liver disease in two siblings with heterozygous A1AT phenotype Pi SZ.
Patients: Two adult siblings with an A1AT Pi SZ phenotype and reduced levels of A1AC consistent with heterozygosity who developed cirrhosis and underwent liver transplantation.
Methods and results: A1AT and A1AC levels in plasma measured by electroimmunoassay were 74 mg/dl and 90 mg/dl (140–470) and 0.12 mg/ml and 0.14 mg/ml (0.173–0.46), respectively. Immunohistochemistry revealed an apparent accumulation of both A1AT and A1AC in hepatocytes. A previously reported point mutation in exon III (Pro229 to Ala substitution) of the A1AC gene was not detected by polymerase chain reaction amplification and a single strand conformation polymorphism analysis.
Conclusions: Our report represents the first case of two siblings with A1CA phenotype Pi SZ who developed cirrhosis and underwent liver transplantation. Both siblings were heterozygous for A1AT and A1AC deficiency suggesting that combined deficiency of these two major serine protease inhibitors may enhance the risk of developing liver disease.
alpha-1-antitrypsin; alpha-1-antichymotrypsin; metabolic disorder; liver disease
Hepatitis B virus precore mutation and fulminant hepatitis in the United States. A polymerase chain reaction-based assay for the detection of specific mutation.
Liang, T J
Munoz, S J
Shapiro, C N
McMahon, B J
Alter, M J
Dienstag, J L
Journal of Clinical Investigation
Hepatitis B virus (HBV) variants with precore mutation(s) resulting in the absence of HBeAg production have been associated with the occurrence of fulminant hepatitis in Japan, Israel, and southern Europe, where the prevalence of this HBV strain appears common. In areas such as United States, where HBV infection is not endemic, the role of this mutant virus in fulminant hepatitis is unknown. We developed an amplification refractory mutation detection system to detect specifically the presence of the G to A mutation at nucleotide position 1898, which is the most frequently observed mutation resulting in a precore stop codon. In addition, this method provided a quantitative measurement of the relative ratio of one strain to the other. Using this system, we tested HBV strains for the presence of the stop codon mutation in sera from 40 cases of fulminant hepatitis B occurring in the United States. Serum HBV DNAs from 28 patients were analyzed successfully. A mixture of wild-type and mutant strains in various ratios were observed in 15 patients, wild type exclusively in 11, and mutant exclusively in 2. Four of these patients had undergone liver transplantation for HBV-associated cirrhosis and developed fulminant HBV-associated hepatitis after transplantation. Pre- and posttransplant serum samples from one patient were analyzed: a mixture of wild-type and mutant HBV strains was detected in both samples. Our study demonstrated that both wild-type and mutant HBV strains are associated with fulminant hepatitis, and that in some patients in the United States, factors other than precore mutations contribute to the development of fulminant hepatitis.
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