Intraabdominal desmoplastic small round cell tumor: report of a case with fine needle aspiration, cytologic diagnosis and molecular confirmation.

BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a recently described neoplasm. This entity is well defined, with distinct clinical, pathologic and immunohistochemical features. Molecular studies have shown a specific reciprocal translocation t(11;22)(p13;q12). To our knowledge, no report of DSRCT with molecular confirmation on cytologic material has been reported before. CASE: Fine needle aspiration (FNA) was performed on an intraabdominal mass in a 37-year-old man. A May-Grunwald-Giemsa-stained preparation showed clusters of small round tumor cells associated with desmoplastic stromal cells, highly suggestive of DSRCT. FNA of a supraclavicular node showed cytologic features similar to those of the primary abdominal mass, including a prominent desmoplastic reaction of the stroma. Immunocytochemical studies showed myogenic and epithelial differentiation. Molecular analysis was performed on FNA, revealing the EWS/ WT1 chimeric transcript and thus confirming the cytologic diagnosis. CONCLUSION: Cytomorphologically, a definitive diagnosis of DSRCT may be difficult, as this tumor bears considerable resemblance to other small round cell tumors. The diagnosis can be confirmed by ancillary techniques, such as immunocytochemistry, and particularly by molecular analysis, which may also be performed on cytologic material.

Expression patterns of L-plastin isoform in normal and carcinomatous breast tissues.

Plastins are members of a family of actin-binding proteins which exhibit a tissue-specific expression pattern. L-plastin, which is specifically expressed in hematopoietic cell lineage, has been proposed to be involved in the control of cell adhesion and motility. This protein is also frequently expressed in cell lines derived from mammary solid tumors and therefore might be involved in cancer invasion and metastasis. We have analysed plastin expression in normal and carcinomatous breast tissues in vivo by immunohistochemistry and immunoblotting approaches using specific plastin isoform antibodies. L-plastin was not detected in normal epithelial cells of the mammary gland whereas a staining of myoepithelial cells was observed in 50% of the cases. In breast carcinomas, a significant immunostaining of malignant epithelial cells was observed in 4 of the 29 cases analysed (13.8%). No correlation between L-plastin expression and tumor size, histological grade or lymph node status was observed. In contrast, L-plastin was found expressed in 4 of the 11 estrogen and progesterone receptors negative tumors (p = 0.039). The potential role of plastin expression in the tumor process is discussed.

ERBB2 overexpression in breast carcinomas: no positive correlation with complete pathological response to preoperative high-dose anthracycline-based chemotherapy.

The predictive value of ERBB2 amplification/expression to doxorubicin use is controversial. Preoperative chemotherapy, followed by the pathological assessment of tumour response to treatment provide optimal conditions for the evaluation of the predictive value of biological parameters. We report here data on the predictive value of ERBB2 in a series of 54 cases of breast cancer treated by preoperative high-dose anthracycline-based chemotherapy. Our series consisted of 26 women presenting an inflammatory breast cancer (IBC) and of 28 women with poor prognosis primary cancer (PPPC). Patients received a total of four cycles with doxorubicin (75 mg/m(2) for IBC or 70 mg/m(2) for PPPC) and cyclophosphamide (6 g/m(2) for IBC or 1400 mg/m(2) for PPPC), every 21 days. ERBB2 expression was determined by immunohistochemistry (clone CB11) performed on a tumour biopsy taken before chemotherapy. All patients underwent surgery as a second step of treatment, and the tumour response was assessed on pathological specimens. A complete pathological response was observed in 24 of the 54 cases (44%) (95% confidence interval (CI), 31-57). Pathological complete response was positively correlated with high histological grade (P=0. 02) and with the absence of oestrogen (P=0.003) or progesterone (P=0. 02) receptor expression. ERBB2 overexpression was found in 18 of the 54 cases (33%). A complete pathological response was observed in 33% of these cases (6/18). This figure was not significantly different from the 50% rate of complete response observed for tumours with no detectable ERBB2 expression (18/36). In this small series, ERBB2 overexpression was not a significant predictive marker of the pathological response to high-dose doxorubicin-based chemotherapy.

Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions.

BACKGROUND/AIMS: Liver iron accumulation has been described in patients with chronic active hepatitis (CAH) C, and could play a role in the course of liver disease and negatively influence the response to interferon. The aim of this study was to determine the prevalence and severity of liver iron accumulation in CAH C, to assess its relationship with the HFE C282Y and H63D mutations, and to study its interactions with hepatic histological lesions. METHODS: Two hundred and nine patients (131 men, 78 women, mean age 44.3+/-12.0 years) with CAH C, including 19 patients with cirrhosis (9.1%) were studied. A semiquantitative grading system from 0 to 3 was used for histological assessment of liver iron accumulation on Perls' staining. The HFE C282Y and H63D mutations were screened for by restriction enzyme analysis performed on PCR-amplified products. Histological scores of activity and fibrosis were determined according to a previously validated METAVIR score system. RESULTS: Liver iron accumulation was found in 88/209 patients (42.1%), and was generally mild. The C282Y and H63D allele frequencies were in 23 (11.0%), and 50 (23.9%), respectively. No association was found between the presence of liver iron accumulation and the detection of the C282Y and H63D mutations. A significant relationship was found between the severity of histological activity and liver iron accumulation of macrophagic or mixed (i.e. both macrophagic and hepatocytic) type (p = 0.04). Although the number of cirrhotic patients was small, cirrhosis was more frequently observed in patients with than without liver iron accumulation (17.2% vs. 3.3%, p = 0.004). CONCLUSIONS: Overall, these data suggest that the liver iron accumulation in patients with CAH C is significantly associated with histological activity and cirrhosis, whereas the two missense hemochromatosis gene mutations are not major determinants.

Post-traumatic membranous obstruction of the inferior vena cava associated with a hypercoagulable state.

It has been hypothesized that abdominal trauma may be one of the factors involved in membranous obstruction of the inferior vena cava. We present two cases of membranous obstruction of the inferior vena cava associated with trauma. One asymptomatic case, associated with an occult myeloproliferative disorder, developed within 3 years of a violent abdominal trauma. The other case, associated with familial plasminogen deficiency, was discovered at surgery 3 days after a road accident with obvious abdominal trauma, since superimposed extensive thrombosis of the inferior vena cava caused acute Budd-Chiari syndrome. We conclude that underlying prothrombotic conditions are probably necessary for the development of membranous obstruction of the inferior vena cava and that minor trauma may contribute to the development of thrombosis through indirect mechanisms.

[Budd-Chiari syndrome secondary to post-traumatic stenosis of the inferior vena cava]. / Syndrome de Budd-Chiari secondaire à une sténose post-traumatique de la veine cave inférieure.

Budd-Chiari syndrome with inferior vena cava involvement is usually due to membranous obstruction; traumatic origin of inferior vena cava lesions is very rare. We report a case of Budd-Chiari syndrome in a 29 year-old man, 3 years after an abdominal trauma. Cavography showed 50% stenosis in the sushepatic portion of the inferior vena cava. After two unsuccessful percutaneous transluminal angioplasty procedures, a surgical resection of the stenotic vein was performed. The histological study of the stenotic segments showed that the three layers of the venous wall had been replaced by a dense fibrous tissue. No inflammation or thrombosis were found. This case of stenosis of the vena cava shows that histological examination can be used to assess the traumatic nature of the lesion, showing a different histological pattern from that of the membranous obstruction in which the basic structure of the venous wall is preserved.