Primary Cutaneous Desmoplastic Melanoma With Collagen Rosettes and Pseudoglandular Features.

ABSTRACT: Primary cutaneous desmoplastic melanoma (DM) is a group of rare melanocytic tumors arising on severely sun-damaged skin, histologically characterized by the proliferation of spindled melanocytes in a prominent desmoplastic stroma, with a range of morphological presentations. In this article, we report a unique case of primary cutaneous DM composed of a nodular proliferation of highly pleomorphic spindled and epithelioid cells, pseudoglandular structures, clear cell change, and unusual collagen rosettes. Immunohistochemical analysis showed a strong and diffuse positivity for S-100 protein, SOX-10, nestin, p75 (nerve growth factor receptor), WT1, and p53. Molecular analysis detected a mutation in the NF1 gene [c.4084C > T, p.(Arg1362Ter)], 2 different pathogenic mutations in TP53 [c.742C > T, p.(Arg248Trp), AF:12%, COSM1640831 and c.528C > G, p.(Cys176Trp), AF:12%, COSM11114], and a mutation in GNAS [c.601C > T, p.(Arg201Cys), AF: 9%, COSM123397]. To the best of our knowledge, this is the first case reporting collagen rosettes and pseudoglandular features in primary cutaneous DM.

[Cystic polyposis of the stomach (fundic gland polyps)--relationship to the absence of Helicobacter pylori infection and a therapy with drugs suppressing gastric acidity]. / Cystická polypóza zaludku (polypy ze zlázek fundu)--vztah k neprítomnosti infekce Helicobacter pylori a k uzívání léku snizujících zaludecní aciditu.

BACKGROUND: Cystic gastric polyps (fundic gland polyps) have been diagnosed relatively frequently in recent years. The aim of the study was to assess their incidence and relation to possible etiological factors reported in the literature. MATERIAL AND METHODS: Over a 5 year period, we have endoscopically and histologically proved cystic polyps in 32 patients. All were examined for Helicobacter pylori infection using either the invasive rapid test, histological examination or 13C urea breath test. RESULTS: Cystic gastric polyps were found significantly more frequently in women (27) than in men (5). All patients were treated with long-term medication suppressing gastric acidity (26 patients with proton pump inhibitors, and 6 with H2 receptor blockers). Helicobacter pylori infection was not detected in either of the patients with proven cystic gastric polyps. Cystic gastric polyps have not the typical clinical picture and they are largely found incidentally during gastroscopic examination, especially in patients with reflux esophagitis or functional dyspepsia. CONCLUSION: The results confirm evidence in the literature of a close relation between cystic gastric polyps and intensive suppressive treatment of gastric acidity, particularly in combination with the current absence of Helicobacter pylori infection. Precise explanation of this relation and the etiology of cystic gastric polyps is still missing. Important is the fact that the literature reports do not indicate a risk of malignant transformation.

Pathological complete response in advanced gastrointestinal stromal tumor after imatinib therapy.

Gastrointestinal stromal tumor (GIST) is a rare neoplasm exhibiting, in most cases, mutations of c-kit. Recently it has been demonstrated that a majority of GIST patients with c-kit mutations respond to therapy with imatinib, a c-kit tyrosine kinase inhibitor. Although the response rate in patients treated with imatinib in prospective clinical studies is above 50%, complete response is rare, and the data on the use of imatinib as neoaduvant therapy facilitating radical surgery is still scanty. Here, we report on a patient with metastatic gastric GIST who underwent surgery after 6 months of imatinib therapy. No tumor cells were detected on pathological examination of resection specimen. This case report indicates that a pathological complete response could be achieved with imatinib therapy in patients with GIST, but a wider experience and longer follow-up is necessary to appreciate the prognostic significance of pathological complete response in GIST.

Hepatic arterial infusion chemotherapy in sarcoma liver metastases: a report of 6 cases.

AIMS AND BACKGROUND: Liver metastases in patients with sarcoma are rare and associated with a poor prognosis. The experience with liver-directed therapies, eg hepatic arterial infusion, in these patients is limited. METHODS: Six patients with sarcoma metastatic to the liver (4 patients with gastrointestinal stromal tumors and 2 patients with leiomyosarcoma) were treated by hepatic arterial infusion in our center over a 12-year period. Since the experience was limited, a pooled analysis of reports with data on survival of 22 individual patients was performed. RESULTS: None of the 5 assessable patients responded to the therapy, and liver metastases progressed in all patients. The median survival was 20 months. In the pooled analysis, partial response was observed in 10 of 21 assessable patients (48%) and median survival was 20 months. The survival was significantly longer in responding patients compared to nonresponders (35 vs 14 months; logrank test, P = 0.009). CONCLUSIONS: Hepatic arterial infusion has little efficacy in the treatment of sarcoma metastatic to the liver. More promising results have been reported for chemoembolization. The survival of responding patients seems to be better compared to non-responders.

Hepatic arterial infusion chemotherapy in gastric cancer: a report of four cases and analysis of the literature.

AIMS AND BACKGROUND: Gastric cancer is associated with high mortality. Although the liver is a common site of metastases in this tumor, the experience with liver-directed therapies is limited. METHODS: We report a single-center experience involving four patients with liver metastases from gastric cancer treated by hepatic arterial infusion (HAI). In addition, we performed a search for reports on HAI in gastric cancer metastatic to the liver and used the studies with data on survival of individual patients for a pooled analysis. RESULTS: Among three valuable patients, one had a complete response, one had stable disease and one had progressive disease. The patient with complete response is still alive 41 months after the diagnosis of liver metastases, while the other patients died 6, 22 and 31 months after the diagnosis. Objective responses were observed in 48% of the 25 patients in the pooled analysis. Objective response and limited hepatic involvement were independent predictors of survival in these patients. CONCLUSIONS: Although isolated liver involvement in metastatic gastric cancer is rare, HAI seems to be similarly effective in these patients as in patients with liver metastases from colorectal cancer. The prognosis is significantly better in gastric cancer patients who have limited hepatic involvement and attain an objective response after HAI.

[Congenital dyserythropoietic anemia--type II (CDA-II) in 3 siblings with long-term follow up and iron overload]. / Kongenitální dyserytropoetická anémie-typ II (CDA-II) u trí sourozencu s dlouhodobým sledováním a pretízením zelezem.

The diagnosis of congenital dyserythropioetic anemia-type II (CDA-II) was established in 1974 in three siblings aged 20, 18 and 5 years, respectively. Liver biopsy performed in two elder siblings on admission revealed liver siderosis. Anemia showing haemolytic component with destruction of erythrocytes in the spleen was corrected after splenectomy. Increased number of erythrocytes showing "the double membrane phenomenon" was found in the peripheral blood after splenectomy. All three siblings developed cholecystolithiasis with choledocholithiasis and obstructive jaundice in two of them. Two patients at the age of 49 and 34 years (the third died in an accident at the age of 40 years) developed 29 years after the diagnosis of CDA-II had been established signs of iron overload with transferin saturation 99%, serum ferritin 1450.4 microg/l and 1131.7 microg/l respectively, and hepatic iron concentration (dry weight) 14,843 microg/g and 15,415 microg/g (norm 70-1400 microg/g) respectively. No mutations of HFE gene (C282Y and H63D) were found. Liver biopsy showed heavy accumulation of hemosiderin in hepatocytes and reticuloendothelial cells. The structure of the liver tissue was not changed, only mild fibrosis in portal area was present in the older patient. Because of iron overload therapy with phlebotomy once monthly (400 ml) has been started in both patients. In peripheral blood films excess of Pappenheimer bodies was found.