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1.
Case Rep Pathol ; 2018: 2651716, 2018.
Article in English | MEDLINE | ID: mdl-30258661

ABSTRACT

A case of lymphoepithelioma-like (LEL) hepatobiliary carcinoma is reported. To date, only 89 cases of this rare neoplasm have been reported, with both hepatocellular and cholangiocellular histotype. The case reported here could be classified as LEL mixed hepatobiliary carcinoma (Hepato-Cholangio), a histotype not reported so far in the LEL variant.

2.
Case Rep Pathol ; 2017: 5281239, 2017.
Article in English | MEDLINE | ID: mdl-28409046

ABSTRACT

Chordomas are rare malignant tumors of notochordal origin and are rare locally aggressive ones with a metastatic potential. The skin rarely is seen as metastatic site. We describe a case of an adult woman with cutaneous metastasis of a primary sacral chordoma excised ten years before, which appeared as a painless cutaneous mass located in the dorsal region. Once removed, the surgical specimen was formalin fixed and in paraffin embedded. Sections were stained with haematoxylin-eosin, and histochemical and immunohistochemical investigations were performed. Histologically, the neoplasia was characterized by cords or single tumor cells with an abundant myxoid stroma, conspicuous pale vacuolated cytoplasm (the classic "physaliphorous cells"), and mild nuclear atypia. Mitotic activity was scanty. At immunohistochemistry, the tumor cells were diffusely positive for S-100 protein, pan-keratins, EMA, and vimentin. A diagnosis of cutaneous metastasis of chordoma was performed. This case illustrates a diagnostic challenge because of the unusual presentation of an already rare tumor.

4.
Clin Chem ; 49(11): 1830-8, 2003 Nov.
Article in English | MEDLINE | ID: mdl-14578314

ABSTRACT

BACKGROUND: The diagnosis and monitoring of severe combined immunodeficiency disease (SCID) attributable to adenosine deaminase (ADA) deficiency requires measurements of ADA, purine nucleoside phosphorylase (PNP), and S-adenosyl-L-homocysteine-hydrolase (SAHH) activity and of deoxyadenosine metabolites. We developed capillary electrophoresis (CE) methods for the detection of key diagnostic metabolites and evaluation of enzyme activities. METHODS: Deoxyadenosine metabolites were separated in 30 mmol/L sodium borate-10 mmol/L sodium dodecyl sulfate (pH 9.80) at 25 degrees C on a 60-cm uncoated capillary. For determination of enzyme activities, substrate-product separation and measurements were carried out in 20 mmol/L sodium borate (pH 10.00) at 25 degrees C on a 42-cm uncoated capillary. RESULTS: Deoxynucleotides and deoxyadenosine were readily detectable in erythrocytes and urine, respectively. Both methods were linear in the range 2-500 micro mol/L (r >0.99). Intra- and interassay CV were <4%. Enzyme activities were linear with respect to sample amounts in the incubation mixture and to incubation time (r >0.99 for both). In erythrocytes from healthy individuals, mean (SD) ADA activity was 5619 (2584) nmol/s per liter of packed cells. In erythrocytes of SCID patients at diagnosis, ADA activity was 56.9 (48.3) nmol/s per liter of packed cells; SAHH activity was also much reduced. PNP activity was similar in patients and controls. CONCLUSIONS: CE can be used to test ADA deficiency and enables rapid assessment of ADA expression in hematopoietic cells of SCID patients during therapy.


Subject(s)
Adenosine Deaminase/deficiency , Adenosine Deaminase/blood , Adenosine Deaminase/urine , Adenosylhomocysteinase/blood , Adenosylhomocysteinase/urine , Adult , Child , Deoxyadenosines/blood , Deoxyadenosines/metabolism , Deoxyadenosines/urine , Electrophoresis, Capillary , Humans , Purine-Nucleoside Phosphorylase/blood , Purine-Nucleoside Phosphorylase/urine
5.
Prostate ; 52(3): 167-72, 2002 Aug 01.
Article in English | MEDLINE | ID: mdl-12111693

ABSTRACT

BACKGROUND: Urocortin (UCN) is a recently described neuropeptide member of the CRF family, responsible for the secretion of the proopiomelanocortin-derived peptides from the pituitary gland. Although previous results have demonstrated the synthesis of several neuroendocrine factors in the prostate, no studies have been carried out on the expression of UCN in the human gland. METHODS: UCN expression was evaluated in benign prostatic hyperplasia and prostatic tumor tissues by RT-PCR and immunohistochemistry. RESULTS: UCN mRNA and peptide were demonstrated in all specimens tested. In nonneoplastic tissues, UCN was localized in the secretory luminal epithelial and basal layer cells, in the smooth muscle component of the stroma, and in lymphoid infiltrates. An intense immunostaining was evident in prostate adenocarcinoma cells. CONCLUSIONS: The results of the present study demonstrate for the first time UCN expression in the human prostate and in prostate cancer, and suggest a potential involvement of UCN in prostate physiopathology.


Subject(s)
Adenocarcinoma/metabolism , Corticotropin-Releasing Hormone/genetics , Corticotropin-Releasing Hormone/metabolism , Prostate/metabolism , Prostatic Neoplasms/metabolism , RNA, Messenger/metabolism , Adenocarcinoma/pathology , Aged , Aged, 80 and over , Humans , Immunohistochemistry , Male , Middle Aged , Prostate/cytology , Prostate/pathology , Prostatic Neoplasms/pathology , Reference Values , Reverse Transcriptase Polymerase Chain Reaction , Tissue Distribution , Urocortins
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