Biomedical subjects

Antonina Parafioriti

Publications and source records attributed to Antonina Parafioriti.

9 recordsLinked to original sources

PubMed2006

Hypokalemic rhabdomyolysis without watery diarrhea: an unexpected presentation of a pancreatic neuro-endocrine tumor.

Pancreatic polypeptide (PP) islet cell tumors are usually not associated with a distinct clinical syndrome, although some reports suggest that they can cause a watery diarrhea syndrome similar to vasoactive intestinal polypeptide (VIP) cell tumors. We report the case of a young woman with an unusual presentation of a pancreatic neuroendocrine tumor mainly secreting PP. The patient developed a reversible hypokalemic rhabdomyolysis very likely secondary to the presence of the tumor. The myopathy resolved following the restoration of normokaliemia using potassium supplementation and a partial laparoscopic pancreasectomy. Isolated cases of hypokalemic rhabdomyolysis induced by intestinal diseases have been described in literature but these did not include gastroenteropancreatic neoplasms. We suggest that pancreatic neuroendocrine tumors should be added to the list of intestinal diseases capable of producing hypokalemic myopathy.

Adult↗

PubMed2004

Adaptive changes of duodenal iron transport proteins in celiac disease.

Iron deficiency is a manifestation of celiac disease (CD) usually attributed to a decreased absorptive surface, although no data on the regulation of iron transport under these conditions are currently available. Our aim was to evaluate divalent metal transporter 1 (DMT1), duodenal cytochrome b (Dcytb), ferroportin 1 (FP1), hephaestin, and transferrin receptor 1 (TfR1) expression, as well as iron regulatory protein (IRP) activity in duodenal biopsies from control, anemic, and CD patients. We studied 10 subjects with dyspepsia, 6 with iron-deficiency anemia, and 25 with CD. mRNA levels were determined by real-time PCR, protein expression by Western blotting or immunohistochemistry, and IRP activity by gel shift assay. Our results showed that DMT1, FP1, hephaestin, and TfR1 mRNA levels were significantly increased in CD patients with reduced body iron stores compared with controls, similar to what was observed in anemic patients. Protein expression paralleled the mRNAs changes. DMT1 protein expression was localized in differentiated enterocytes at the villi tips in controls, whereas with iron deficiency it was observed throughout the villi. FP1 expression was localized on the basolateral membrane of enterocytes and increased with low iron stores. TfR1 was localized in the crypts in controls but also in the villi with iron deficiency. These changes were paralleled by IRP activity, which increased in all iron-deficient subjects. We conclude that duodenal DMT1, FP1, hephaestin, and TfR1 expression and IRP activity, thus the iron absorption capacity, are upregulated in CD patients as a consequence of iron deficiency, whereas the increased enterocyte proliferation observed in CD has no effect on iron uptake regulation.

Adaptation, Physiological↗

PubMed2004

Onycholemmal carcinoma.

We report on a slowly growing malignant tumor of the nail bed epithelium in a 69-year-old male. On light microscopic examination, the tumor was composed of: (1) some small cysts filled with eosinophilic, amorphous keratin and lined by an atypical squamous epithelium devoid of a granular layer and (2) solid nests and strands of atypical keratinocytes filling the dermis and penetrating the phalangeal bone. Because the nail bed epithelium is comparable to the outer root sheath, or trichilemma of the hair follicle, and since the reported tumor showed some analogies with trichilemmal carcinoma, we suggest that this entity be designated 'onycholemmal carcinoma'. Disarticulation of the involved phalanx was performed and neither local recurrence nor distant metastasis was observed during 4 years of follow up.

Aged↗

PubMed2003

Mapping of candidate region for chordoma development to 1p36.13 by LOH analysis.

Various cytogenetic and molecular findings indicate 1p36 loss as a consistent change in sporadic and inherited chordoma, a rare embryogenetic neoplasm arising from notochord remnants. We studied 27 sporadic chordomas by means of loss of heterozygosity (LOH) of 31 microsatellites localized to the 1p36.32-36.11 region, and restricted the minimal LOH interval shared by 85% of the tumours to 1p36.13. We also used RT-PCR analysis to investigate the role of the candidate genes CASP9, EPH2A, PAX7, DAN and DVL1, which were selected on the basis of the physical mapping of the LOH region and their plausible oncosuppressor function. RT-PCR analysis showed the presence of DAN and PAX7 transcript fragments of the expected size in all of 8 chordoma samples, whereas the CASP9-specific fragment was observed in only 3 and EPH2A was absent in one. Smaller than expected DVL1 transcripts were found in 4 tumours as well as in their normal counterpart (nucleus pulposus), which also showed a typically sized transcript. Sequencing revealed the skipping of 3 exons in the smallest DVL1 fragment, thus leading to a frameshift and predicting a truncated DVL1 gene product. Our study of the largest cohort of chordoma patients recruited so far indicates a common molecular lesion at 1p36.13, and suggests that the CASP9, EPH2A and DVL1 genes may play an onco-suppressing role and be involved in the development of chordoma.

Adult↗

PubMed2003

A new human cell line, PDSS-26, from poorly differentiated synovial sarcoma, with unique chromosomal anomalies.

Permanent synovial sarcoma cell lines are invaluable tools for understanding of the biology of this tumor. The present study reports the establishment of a new human cell line, PDSS-26, derived from a surgical specimen of a poorly differentiated synovial sarcoma. PDSS-26 has a doubling time of a 72 hours and grows as a monolayer of spindle cells that retain immunoreactivity for bcl-2 and vimentin. Karyotypic analysis revealed a rearrangement involving chromosomes 17 and 18, at the breakpoints q11.2 and q11.2, respectively, as the only structural aberrations. Analysis by reverse transcriptase polymerase chain reaction showed the presence of the SYT-SSX1 fusion transcript in both the primary tumor and the cell line. Cytoplasmic PTEN staining was detected by immunohistochemistry in both the PDSS-26 cell line and in original tumor, whereas no mutation was identified by automatic sequencing. Thus, PDSS-26 cells could be useful for future functional studies.

Adult↗

PubMed2003

Mutations of the 5' noncoding region of the BCL-6 gene in primary bone lymphomas.

Somatic point mutations of the 5' noncoding region of the BCL-6 gene have been described as genetic alterations in non-Hodgkin lymphomas (NHL). They are more frequent in diffuse large B cell (DLBCL) and follicular lymphomas (FL). This study aims to analyse the presence and distribution of BCL-6 gene mutations in a large series of primary bone lymphomas (PBL), a rare extranodal presentation of NHL frequently associated with diffuse large cell morphology. Fifty-three cases of PBL were examined. Mutations were detected with non-radioisotopic polymerase chain reaction-single strand conformation polymorphism and visualized with fluorescent cycle sequencing. Among stage I(E) PBL, there were 30 cases of DLBCL and one each of follicular, anaplastic large cell and peripheral T-cell lymphoma. The stage II(E) PBL included six DLBCL and one lymphoplasmacytic lymphoma, whereas within stage IV PBL there were 12 DLBCL and one Burkitt lymphoma. Fifteen patients (28%) displayed mutational events. In nine cases there were more than one BCL-6 mutation. Only DLBCL displayed mutations (31%). Mutations included single base-pair substitutions (16 transitions and ten transversions) and a single point insertion (ins A 427-28). The frequency of mutations resulted lower in DLBCL of the PBL category than in the majority of other extranodal large cell lymphomas. The prevalence of mutations was higher in stage I(E) PBL than in more advanced stages of the disease (II(E) + IV) ( p=0.02). Our results reinforce the observation of heterogeneity of the DLBCL included in the clinical category of PBL.

5' Untranslated Regions↗

PubMed2003

Molecular and immunohistochemical analysis of HER2/neu oncogene in synovial sarcoma.

Amplification and/or overexpression of HER2/neu have been documented in many types of epithelial tumor and recently has been reported in sarcomas, particularly in osteosarcomas. But the role of HER2/neu alterations in soft tissue tumors remains poorly understood. Thus the present study investigates the expression of HER2/neu in 13 patients with synovial sarcoma (SS). In this study, HER2/neu mRNA levels were measured in frozen tissue samples using a real-time reverse transcription-polymerase chain reaction assay; protein expression was assessed by immunohistochemistry using an anti-HER2/neu polyclonal antibody. Six normal skeletal muscle specimens were used to establish basal levels of HER2/neu mRNA. HER2/neu transcripts were detected in all normal tissues and SSs. Four of 13 sarcomas (31%) demonstrated HER2/neu mRNA levels above the mean value, whereas 3 tumors (23%) displayed HER2/neu protein overexpression. Both membranous and cytoplasmic patterns of immunostaining were observed, and a strong correlation was found between protein expression and mRNA level (P = 0.01). Increased HER2/neu mRNA levels were significantly associated with a lower risk of developing recurrences (P = 0.02). Moreover, none of the patients with HER2/neu overexpression developed metastasis. Our data demonstrate that HER2/neu is expressed in SSs and that both membrane and cytoplasmic HER2/neu expression correlate with mRNA levels. Our results show that the presence of increased levels of HER2/neu in SSs is associated with a more favorable clinical course. Further studies are needed to assess the role of this oncogene in SSs and to evaluate the application of inhibitory humanized monoclonal antibodies in the treatment regimens for this malignancy.

Adolescent↗

PubMed2002

Lymphomas of the bone: a pathological and clinical study of 54 cases.

We examined 28 cases of primary bone lymphomas (PBL; stage IE) and 26 cases of systemic lymphomas involving the bone (SBL; stage IIE to IV). Two histologic types were prevalent: Diffuse large B-cell lymphomas (DLBCL; 26 PBL and 21 SBL) and CD30+ anaplastic large cell lymphomas (ALCL; 1 PBL and 4 SBL). A mature B phenotype (CD45+, CD20+, CD79a+, CDw75+/-, CD10-/+) was established in the DLBCL group. Bcl-2 immunoreactivity was demonstrated in 13/37 cases (35%), and bcl-6 immunostaining was observed in 22/32 cases (69%). ALCL showed null/T phenotype (CD3-/+; CD43+/-; CD30+), with ALK-1 expression in 3/3 cases. With use of a FR3A primer, a monoclonal pattern was demonstrated by PCR analysis in 22/41 lymphomas (54%). Bcl-2 translocation was identified in 2/41 cases (5%). This study details the clinical and pathological characteristics of bone lymphomas. Our immunohistochemical and molecular data suggest that most of them are "de novo" DLBCL and support their follicle center origin.

Adolescent↗

PubMedDate not supplied

Chordoma cutis.

We report a case of an 85-year-old white man with a diffuse form of psoriasis, who showed a large asymptomatic subcutaneous tumour in the sacrococcygeal region. On cut section there was a subcutaneous neoplasia with a glistening, friable surface. Histologically, the deep dermis was infiltrated by cords and nests of pleomorphic cells embedded in an abundant mucinous stroma, and characteristic physaliphorous (multivacuolated) cells were observed. The neoplastic cells were immunohistochemically positive for cytokeratins (using CAM 5.2 and AE1/AE3), vimentin, S100 protein, and epithelial membrane antigen (EMA), but negative for carcinoembryonic antigen (CEA). Histological and immunohistochemical findings led us to the diagnosis of classic chordoma. Chordomas are rare, slow growing malignant tumours of the spinal axis originating from remnants of the notochord. Occasionally, a skin lesion is the first sign of a primitive or metastatic chordoma.

Aged↗