Neira Puizina-Ivić | PubMed Health

PubMed2005

Angiosarcoma arising in sclerodermatous skin.

We report a case of cutaneous angiosarcoma in a 77-year-old female patient with systemic sclerosis. The tumor developed around a large telangiectasia in the left temporal region. Later on, extensive asymptomatic redness and edema with several nodules over the whole left side of the face developed. Since the conservative therapy failed to produce any improvement, a diagnostic skin biopsy was performed. The pathohistological diagnosis was moderately differentiated angiosarcoma. The patient was treated with a combination of chemotherapy and electron beam irradiation. Despite a notable cutaneous improvement, the control check-up revealed the presence of metastases of the lung and liver. This is the first report of cutaneous angiosarcoma occurring in sclerodermatous skin. The possible pathogenesis of this rare tumorogenic transformation of soft tissues is discussed.

Aged↗

PubMed2003

Alterations in CDKN2A locus as potential indicator of melanoma predisposition in relatives of non-familial melanoma cases.

AIM: To examine constitutional alterations of CDKN2A/p16INK4A locus as a potential indicator of melanoma predisposition among the first-degree relatives of patients with malignant melanoma. METHOD: The study included eight families with a single member affected with melanoma. Members of the families were screened for allelic cosegregation with 9p21 region polymorphic markers IFNA, D9S126, and D9S104. The patient's tumors were screened for loss of heterozygosity (LOH) with the same markers, as well as for single strand conformational polymorphism (SSCP) variability of CDKN2A. In suspect cases, constitutional DNA was examined by SSCP and direct sequencing. RESULTS: LOH was detected in four cases, and SSCP indicated variability in at least one CDKN2A exon in these tumor samples. In three of four LOH cases, the remaining allele cosegregated within the family, which was interpreted as a preliminary indicator of potential genetic predisposition. In one of these three families, we found constitutional CDKN2A mutations in the patient and one of the relatives. In the second family, only the patient had the constitutionally altered gene, whereas no constitutional CDKN2A alterations were detected in the third family. All significant mutations were different and had not been reported before. CONCLUSION: We detected one case of melanoma predisposition among unaffected family members, which corresponded to statistical expectations for such a small number of screened families. Since constitutional mutations of CDKN2A exons have limited incidence, our stepwise approach seemed to be more informative and more affordable than straightforward CDKN2A sequencing of all subjects.

Alleles↗

PubMed2003

Syphilitic aneurysm: case report.

Tertiary syphilis is a rare, slowly progressive inflammatory disease that becomes clinically visible years after initial infection. Although it can affect any organ in the body, it shows a predilection for the cardiovascular and nervous systems. Today, however, cardiovascular syphilis is a medical curiosity because the disease can successfully be treated with antibiotics in its early phase. We present a case of a 43-year-old male patient with a syphilitic aneurysm of the descendent aorta and our choice of treatment.

Adult↗