PubMed Health⌕ Search

Biomedical subjects

R Böni

Publications and source records attributed to R Böni.

At least 19 recordsLinked to original sources
PubMed2002

Histological, immunological and molecular features of a nasal mucosa primary melanoma associated with nasal melanosis.

Nasal mucosa melanoma is a rare entity that may occur together with nasal melanosis. The histological and immunological features and loss of heterozygosity analysis of such lesions have not been reported to date. In the study presented here short-term cell cultures were established from the patient's melanoma and subsequent relapses. Histology, immunohistochemistry, reverse transcription-polymerase chain reaction enzyme-linked immunosorbent assay, human leukocyte antigen analysis, microdissection with subsequent polymerase chain reaction for analysis of loss of heterozygosity were used to characterize the tumour and other cells. Melanoma of the nasal cavity was found, with a surrounding proliferation of atypical melanocytes corresponding to nasal melanosis. Immunoreactivity was found for S-100, gp100, tyrosinase and MelanA protein. Loss of heterozygosity for a p16-flanking marker was found in the tumour and the melanotic cells. Short-term cell cultures expressed tyrosinase and MUC18 at the mRNA level and intercellular adhesion molecule-1 (ICAM-1) and interleukin-12 receptor at the protein level. This is the first time short-term cell cultures have been established and analysed from such a tumour. Melanoma-associated antigens were identified within the tumour. The melanoma and the melanotic cells showed loss of heterozygosity for the p16 gene, which is implicated in melanoma development. This points to a common origin in tumorigenesis. Pathways of tumour escape, such as expression of CD54 and interleukin-10, were observed. The clinical, immunological and molecular features suggest that nasal melanosis should be followed closely.

Adult↗
PubMed2001

[Treatment of hyperfunctional facial lines with botulinum toxin].

Lines and wrinkles in the face are not only due to intrinsic and photoaging, but are also caused by lines of facial expression due to muscular action. Botulinum toxin A, which blocks the cholinergic transmission resulting in flaccid paralysis, is a powerful therapeutic tool in the treatment of frown lines, glabellar lines, crow-feet and platysma-bands. It has to be kept in mind, however, that the benefits of this treatment are transient and repeated injections are necessary. A treatment guide with injection sides and concentration of the toxin is presented in the context of the current literature.

Adult↗
PubMed2001

TAP1 down-regulation in primary melanoma lesions: an independent marker of poor prognosis.

Melanoma tumor thickness is a major prognostic factor. Thin lesions, however, may metastasize, and sometimes thick tumors may not. To investigate the role of HLA class I-mediated antigen presentation, we correlated the expression of components of the antigen-processing machinery in primary melanoma lesions with their thickness and with the development of metastases. Seventeen formalin-fixed, paraffin-embedded primary melanomas thinner than 0.76 mm and 21 thicker than 1.50 mm were stained with anti-LMP2, -LMP7, -TAP1, -TAP2, -HLA class I and -beta2-microglobulin monoclonal antibodies. Twenty patients remained tumor-free in the follow-up period (10.5 +/- 1.8 years). Eighteen patients relapsed within a median period of 15.0 months following tumor excision. Expression of all markers in the tested lesions was down-regulated, the frequency ranging from about 40% for LMP and TAP subunits to about 70% for HLA class I antigens. Expression of all markers was not correlated with tumor thickness. Only TAP1 and TAP2 down-regulation was significantly (p = 0.026 and 0.042, respectively) correlated with the development of metastases. This correlation was independent of tumor thickness for TAP1. We suggest that TAP1 and probably TAP2 expression in primary lesions represents an independent prognostic marker in melanoma. Abnormalities in antigen presentation may account for the lack of absolute correlation between tumor thickness and prognosis.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed2001

Spitz nevi display allelic deletions.

BACKGROUND: Spitz nevi are acquired benign melanocytic lesions that occur in childhood and adolescence. Histologically, they resemble malignant melanoma and were first termed benign juvenile melanoma. Several studies have attempted the difficult task of establishing diagnostic criteria to differentiate between Spitz nevi and malignant melanoma. OBJECTIVE: To elucidate sets of diagnostic criteria for differentiation between the 2 lesions. DESIGN: We aimed to search for allelic deletions in Spitz nevi and to evaluate whether loss of heterozygosity (LOH) or microsatellite instability (MSI) would be a valuable diagnostic tool to differentiate between Spitz nevi and malignant melanoma. SETTING: Two areas within each of 5 lesions were microdissected, and LOH and MSI were evaluated at chromosomes 6q (using polymorphic DNA marker D6S305), 9p21 (D9S171, IFNA, D9S265, and D9S270), 10q (D10S185), and 14q (D14S53). PATIENTS: Five Swiss patients with Spitz nevi. INTERVENTIONS: None. MAIN OUTCOME MEASURE: Allelic deletions may serve as a diagnostic tool to distinguish Spitz nevi from melanoma. RESULTS: All lesions were informative, displaying LOH or MSI with at least one marker. No LOHs were found at 14q. At 6q, MSI was found in 2 dissected areas from the same lesion; the remaining lesions were noninformative. Loss of heterozygosity was found in 2 of 6 areas at D9S171, 2 of 6 at IFNA, 3 of 6 at D9S270, 3 of 4 at D9S265, and 1 of 4 at D10S185. Microsatellite instability was found in 1 of 4 areas at D9S265. CONCLUSIONS: With the markers used in our study, Spitz nevi display LOH and MSI similar to those in melanoma. Analysis of LOH or MSI is therefore not a suitable diagnostic tool in distinguishing Spitz nevi from melanoma.

Adolescent↗
PubMed2001

Syringocystadenoma papilliferum: a study of potential tumor suppressor genes.

Syringocystadenoma papilliferum (SP) is a benign tumor most commonly located on the scalp or face, which frequently arises from a nevus sebaceus (NS). Transition of SP to basal cell carcinoma (BCC) and, albeit rarely, to metastatic adenocarcinoma may occur. Allelic deletions of the human homologue of the drosophila patched gene (PTCH) occur in both NS and BCC. To search for genetic changes in SP, a microdissection-based genetic analysis using polymorphic markers at 9q22 (PTCH; D9S15, D9S303, D9S287, D9S252) as well as markers at 9p21 flanking the tumor suppressor gene p16 (IFNA, D9S171) was performed. Glandular epithelium consisting of two rows of cells as well as adjacent normal tissue or inflammatory infiltrates in the stroma, when present, was dissected and subjected to single-step DNA extraction and loss of heterozygosity (LOH) analysis. Two of 10 informative SP cases showed LOH at 9q22 (PTCH). Three of 7 informative SP cases showed allelic deletions at 9p21 (p16). Allelic loss at 9q22 is consistent with the clinical observation of transition of SP to BCC. The finding of frequent allelic loss at 9p21 is unlikely to be related to the rare transition of SP to metastatic adenocarcinoma. Our study supports the hypothesis of a gatekeeper role of the tumor suppressor gene p16 in a variety of benign and malignant tumors, including SP.

Adenocarcinoma, Papillary↗
PubMed2001

Heterogeneity of allelic deletions within melanoma metastases.

During the initiation and progression of malignant melanoma, a series of different genetic events accumulate on several different chromosomes. The biological heterogeneity of tumour cells presents a major problem, preventing effective treatment of melanoma. To examine the degree of genetic heterogeneity, we searched for allelic losses (loss of heterozygosity; LOH) on chromosomes 9p, 9q, 1p and 17p, examining different areas within human melanoma metastases. All of the examined metastases were informative within at least one dissected area for at least one marker. Out of 29 areas in 11 melanoma metastases, 58% showed LOH with at least one marker. On chromosome 9p21-22, eight out of 26 informative loci (31%) showed LOH at D9S171 (three not informative), two out of 18 (11%) at IFNA (11 not informative) and seven out of 24 (29%) at D9S169 (five not informative). LOH on chromosome 9q22.3 was examined by the microsatellite marker D9S12; three out of 24 areas (12.5%) showed LOH, and five were not informative. Deletions on chromosome 1p were assessed using D1S450. Four out of 25 (16%) showed LOH; four were not informative. Deletions on chromosome 17p13 were examined with TP53; two out of 21 cases (9%) showed LOH, and eight were not informative. Our data demonstrate an impressive heterogeneity of allelic losses in the investigated chromosomal areas within the same metastatic lesion. This suggests that there is not one specific genetic alteration that accounts for melanoma progression to metastases. Rather there seem to be multiple genetic alterations accumulating even on the same chromosome, and progression from melanoma to metastases is paralleled by the accumulation of clones harbouring multiple genetic abnormalities.

Adult↗
PubMed2000

[Helicobacter pylori and skin diseases--a (still) intact myth?].

Helicobacter pylori plays a key role in the aetiology of peptic ulcer, gastric cancer and gastric MALT-lymphoma. Based on a number of reports, a possible relationship of Helicobacter pylori infection to a variety of different dermatoses has been suggested, including urticaria, rosacea, acne-rosacea, atopic dermatitis, alopecia areata, Sjögren's syndrome, Schönlein-Henoch purpura, and Sweet syndrome. Larger case-control studies, however, do not confirm this relationship. Therefore, Helicobacter pylori eradication therapy cannot be generally recommended in these dermatoses.

Helicobacter Infections↗
PubMed2000

[Aging skin: physiological bases, preventive measures and therapeutic modalities].

The average lifespan has increased considerably in our society. Since the skin represents the most visible organ of ageing, there is increasing interest in the physiology and treatment of wrinkles, elastosis and senile xerosis. Cutaneous ageing is a complex phenomenon consisting of genetically determined intrinsic ageing and extrinsic ageing, the latter due to sun exposure, cigarette smoking and exposure to irritants. A number of biological changes can be found during the cutaneous ageing process, including decrease of epidermal, dermal and subcutaneous cellular components and changes in the immune system. Treatment modalities include the use of emollients in the treatment of senile xerosis, and topical retinoic and glycolic acid preparations, chemical peels, botulinum, collagen and hyaluronic acid injections, dermabrasion, CO2, and Nd:Yag laser resurfacing in the treatment of wrinkles.

Aged↗