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K Peris

Publications and source records attributed to K Peris.

At least 37 records · Page 2Linked to original sources
PubMed1997

Analysis of microsatellite instability and loss of heterozygosity in keratoacanthoma.

We analyzed microsatellite instability (MSI) and loss of heterozygosity (LOH) at 17 microsatellite markers located on chromosomes 2p, 3p, 5q, 6q, 9p, 9q, 17p and 18q in 19 randomly selected keratoacantomas (KAS), in one cutaneous lesion that histologically could not unequivocally be differentiated from squamous cell carcinoma, and in one patient with multiple KAs of longstanding duration. The goals of our study were to determine whether, in a similar manner to some visceral carcinomas, genomic instability could be detected in KAs and to clarify whether molecular analysis might be useful to further characterize KA. MSI was observed in 2 of 21 cases (9.5%) at 5 of 17 loci examined. In one patient with a solitary KA, the presence of MSI and a family history of visceral malignant tumours suggested that the patient might have belonged to a family with Muir-Torre syndrome. In one other MSI+ KA, a definite differential diagnosis in relation to squamous cell carcinoma could not be established. In addition, one sample displayed LOH at 2 of 17 loci analysed whereas in the patient with multiple KAs, LOH at one locus was the only alteration found. In conclusion, the low frequency of MSI and LOH detected in our study suggests that these genetic events are uncommon in KA unless it is associated with a familial disease (e.g. Muir-Torre syndrome) or it has more aggressive histological features.

Aged↗
PubMed1997

Indeterminate cell histiocytosis: a rare histiocytic disorder.

A 64-year-old woman, otherwise healthy, presented with multiple reddish-brown, slightly yellowish papules on the face and neck, which had developed 3 years earlier. The lesions were painless and nonpruritic and varied in diameter from 1 to 5 mm. Histological and immunohistochemical examination of cutaneous biopsies revealed a diffuse dermal infiltrate composed mainly of histiocytes which expressed both Langerhans cell as well as monocytic/macrophages cell marker characteristics. Electron microscopic studies revealed no Birbeck granules within the cytoplasm of the neoplastic cells, leading to a diagnosis of indeterminate cell histiocytosis. Indeterminate cell histiocytosis is a very rare disease characterized by the proliferation of indeterminate histiocytes which morphologically and immunophenotypically resemble Langerhans cells but lack Birbeck granules.

Female↗
PubMed1997

Cutaneous epithelioid cell histiocytoma: immunohistochemical and ultrastructural findings suggesting endothelial origin.

A 13-year-old boy presented with a polypoid nodule localized in the groin. Although the clinical and histopathological features corresponded to previously described diagnostic criteria of epithelioid cell histiocytoma, immunohistochemical and ultrastructural findings suggested vascular differentiation of the epithelioid cells. In particular, the immunohistochemical negativity of the epithelioid cell elements for Factor XIIIa failed to substantiate the previously forwarded hypothesis that this lesion represents a dendrocytoma. Instead, the presence of histiocytoid, vacuolated cells occasionally containing sparse red blood cells, positive staining for Factor VIII-related antigen, and ultrastructural evidence of endothelial characteristics in epithelioid neoplastic cells favor the hypothesis that "epithelioid cell histiocytoma" is of endothelial origin. We suggest the descriptive term cutaneous histiocytoid hemangioendothelioma for this lesion.

Adolescent↗
PubMed1997

Widespread microsatellite instability in sebaceous tumours of patients with the Muir-Torre syndrome.

Muir-Torre syndrome (MTS) is an autosomal dominant disorder characterized by the presence of at least one sebaceous gland tumour and a minimum of one visceral malignant tumour. Recently, microsatellite instability (MSI) has been detected in the tumours of patients with MTS and germline mutations of the hMSH2 and hMLH1 mismatch repair genes have been detected in some patients with this syndrome. To determine if the tumours of patients with MTS have widespread genomic instability and whether loss of heterozygosity (LOH) in the chromosomal regions containing hMSH2 and hMLH1 is detectable, MSI and LOH were examined at 10 dinucleotide repeats on chromosomes 2p, 3p, 5q, 9p, 17p and 18q. Data were obtained from six sebaceous gland tumours and two adenocarcinomas of the colon from three patients of two Muir-Torre families. MSI was detected at more than half of the loci tested in all sebaceous tumours examined. In addition, there was LOH at D2S119 in one sebaceoma and one sebaceous carcinoma from one patient. The colon carcinomas from two patients showed MSI at five of the 10 loci analysed. These results show that widespread MSI is a feature of tumours in patients with MTS. In addition, the finding of LOH at D2S119, a marker located in the vicinity of hMSH2, in sebaceous tumours of one patient indicates that this gene may have a pathogenetic role in this patient.

Adult↗
PubMed1996

Pilomatrix carcinoma with multiple visceral metastases. Report of a case.

BACKGROUND: The malignant variant of pilomatrixoma is pilomatrix carcinoma, a low-grade, malignant lesion with a tendency to recur. Only three cases with visceral metastases, occurring some years after primary diagnosis, have been reported. METHODS: A case of metastatic pilomatrix carcinoma of the neck in a patient, age 50 years, is presented. RESULTS: Histologic examination of the cutaneous lesion showed a dense infiltrate of basaloid cells, an abrupt transition to shadow cells, and central necrosis. Two months after primary diagnosis, pulmonary and brain metastases developed. Despite chemotherapy and irradiation, the patient died a widespread disease 18 months after the primary diagnosis. An autopsy confirmed the diagnosis of pilomatrix carcinoma with metastases to several organs including the heart, lung, brain, liver, pancreas, kidney, adrenal gland, gastric and colorectal submucosa, skin, and bone. CONCLUSIONS: Pilomatrix carcinoma is very rare and usually behaves like a low-grade, malignant lesion with a tendency to recur. This patient's tumor is unique because of its highly aggressive behavior and visceral metastases.

Hair Diseases↗
PubMed1996

The role of MT2 and anti-bcl-2 protein antibodies in the differentiation of benign from malignant cutaneous infiltrates of B-lymphocytes with germinal center formation.

MT2/CD45RA and anti-bcl-2 protein (Bcl-2) monoclonal antibodies are useful markers in distinguishing follicular lymphomas from reactive follicular hyperplasia of the lymph nodes. We examined biopsy specimens from 11 patients with primary cutaneous B-cell follicle center lymphomas, 10 patients with cutaneous pseudolymphomas with germinal centers, and 6 patients with inflammatory infiltrates with germinal centers in non-lymphoid cutaneous tumors (3 basal cell carcinomas, 2 malignant melanomas, and 1 solar keratosis), in order to evaluate the utility of MT2 and anti-Bcl-2 antibodies in differentiating benign from malignant germinal center cell proliferations in the skin. Immunohistochemical evaluation of MT2 and Bcl-2 was focused exclusively on the reactivity of germinal center cells. Specific membranous MT2 positivity was found in 2/11 cutaneous follicle center lymphomas; a diffuse, non-specific staining pattern was identified in 3/11 follicle center lymphomas and in 1/6 inflammatory infiltrates in non-lymphoid tumors. A negative MT2 reaction was observed in 6/11 follicle center cell lymphomas, in all cases of pseudolymphomas and in 5/6 inflammatory infiltrates in non-lymphoid tumors. Bcl-2 positivity was detected only in 1/11 follicle center lymphomas. Germinal center cells in all other cases were Bcl-2 negative. Our results suggest that MT2 and anti-Bcl-2 antibodies are only of limited value in differentiating primary cutaneous follicle center lymphomas from cutaneous pseudolymphomas with germinal centers.

Antibodies, Monoclonal↗
PubMed1995

Primary centroblastic/centrocytic lymphoma of the skin. Detection of B-cell monoclonality by polymerase chain reaction.

A 60-year-old woman was examined for erythematous plaques and nodules on the back that had appeared 1 year earlier. Histologic examination of a skin biopsy specimen showed a dense, diffuse infiltrate throughout the dermis and subcutis, composed mainly of centroblasts and centrocytes. Immunohistochemistry confirmed positivity of the neoplastic cells for L26 (CD20) and LN1 (CDw75) antibodies and negativity for UCHL1 (CD45RO), polyclonal anti-CD3, anti-kappa, and anti-lambda antibodies. Polymerase chain reaction (PCR) analysis on paraffin-embedded tissue sections of the cutaneous lesion showed immunoglobulin heavy-chain (VDJ) and kappa-chain gene rearrangement. Routine laboratory studies were within normal limits. The staging workup of the patient (bone marrow biopsy, computed tomographic scans of the chest and abdomen) showed no abnormalities. Based on clinicopathologic findings and molecular analysis, a diagnosis of primary cutaneous centroblastic/centrocytic lymphoma was made. The patient was treated with intra- and perilesionally administered recombinant interferon alpha-2a (3 x 10(6) IU) three times a week for 2 months. Complete response was achieved, and no evidence of recurrence has been observed after 18 months of follow-up.

Antigens, CD↗
PubMed1995

Microsatellite instability and loss of heterozygosity in melanoma.

Alterations in the repeat length of microsatellites have been identified recently in tumors arising in patients with hereditary nonpolyposis colon cancer and in several human sporadic tumors. We examined 40 sporadic melanomas and their corresponding nontumorous skin for microsatellite instability (MSI) and loss of heterozygosity (LOH) at chromosomes 2q, 3p25-26, 5q11.2-13.3, 5q21, 6q27, 9p21, 9p22-pter, 17p12, 17p12-p11.1, and 18q23. Specific loci were amplified by polymerase chain reaction, electrophoresed on polyacrylamide gels, transferred onto nylon membranes, and hybridized with 33P-end-labeled oligonucleotides. MSI was observed in eight of 40 (20%) melanomas at one of 10 loci examined. LOH was found at chromosome region 9p21 in 40%, at 9p22 in 22%, and at 17p in 13% of the informative cases. Comparison between clinicopathologic features of patients with and without MSI revealed no obvious differences. LOH at 9p21 was observed only in lesions greater than 1.5 mm in depth, suggesting that it does not represent an early event in sporadic melanoma. Our results indicate that 1) MSI is a genetic alteration in a proportion of sporadic melanoma, which may reflect a defect in genes involved in DNA replication fidelity; and 2) LOH at chromosome region 9p21 is a significant event in sporadic melanoma. The latter finding further supports the hypothesis that the 9p21 region may contain one or more tumor suppressor genes (e.g., MTS1/CDNK2) involved in the pathogenesis of melanoma.

Adult↗
PubMed1995

Detection of Epstein-Barr virus in cutaneous and lymph nodal anaplastic large cell lymphomas (Ki-1+).

Epstein-Barr virus (EBV) is a gamma DNA herpes virus which is thought to play a part in the pathogenesis of some non-Hodgkin's lymphomas in individuals with or without immunodeficiency. We investigated 16 lymph nodal and 12 cutaneous anaplastic large cell lymphomas (ALCLs) (Ki-1+), all of which were in patients without immunodeficiency, for the presence of EBV genomes. The highly sensitive polymerase chain reaction (PCR) technique was employed for detection of viral DNA in extracts from formalin-fixed, paraffin-embedded tissue sections. In addition, we performed radioactive and non-radioactive in situ hybridization (ISH) for localization of EBV at the single cell level. EBV-DNA was demonstrated by PCR in five cases of nodal ALCLs (31%). All cutaneous ALCLs were negative. EBV-encoded small nuclear RNAs (EBERs) could be identified by ISH in the tumour cells of one of the five EBV-DNA-positive patients. Our results further support the concept that EBV may be involved in the development of a proportion of nodal ALCLs, but not in cutaneous ALCLs.

DNA, Viral↗
PubMed1995

Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism.

Keratoderma hereditarium mutilans, or Vohwinkel's syndrome, is a rare cutaneous disorder which is characterized by thickening of the palms, soles and dorsa of the hands and feet, and by ainhum-like constrictions of the fingers. We report a clinically typical case of Vohwinkel's syndrome in a 28-year-old, deaf-mute, woman. The patient presented with keratotic palms and soles which had a 'honeycomb' appearance, starfish-like keratoses on the dorsa of the hands, and pseudoainhum of the digits. Osteoporotic changes were present distal to the constricting bands. Successful treatment with retinoids has been reported recently, and the hyperkeratosis and constricting bands in our patient improved on therapy with etretinate.

Adult↗
PubMed1995

Use of recombinant interferon alfa-2b in the treatment of basal cell carcinoma.

BACKGROUND: Several neoplasms including cutaneous T-cell lymphomas, malignant melanoma and Kaposi's sarcoma have been successfully treated with systemic or intralesional interferons (IFNs). Recently, intralesional alpha-IFN has also been employed in the treatment of basal cell carcinoma (BCC). OBJECTIVE: The aim of our study was to evaluate the efficacy of IFN alfa-2b in the treatment of BCC. METHODS: 140 patients with BCC were treated with intra- und perilesional injections of recombinant IFN alfa-2b at a dosage of 1.5-3 x 10(6) IU, three times a week for 4-8 weeks. RESULTS: Complete response was achieved in 94 patients (67.1%), partial response in 33 patients (23.6%) and no response in 13 patients (9.3%). Side effects included fever, headache, fatigue and nausea but were reversible with the use of paracetamol. None of the patients discontinued therapy due to side effects. After a mean follow-up period of 36 months (12-54 months) no relapse has been observed. CONCLUSION: Based on our results, intra- and perilesional IFN alfa-2b represents an effective, alternative treatment for BCC.

Adult↗
PubMed1994

Detection of Epstein-Barr virus genome in primary cutaneous T and B cell lymphomas and pseudolymphomas.

The Epstein-Barr virus (EBV) genome has recently been identified in Hodgkin's disease (HD) and nodal non-Hodgkin's lymphomas (NHL). In order to elucidate the possible aetiopathogenetic role of EBV in benign and malignant lymphoproliferative disorders we investigated skin specimens from 24 patients with a primary cutaneous lymphoproliferative disorders (10 T-cell lymphomas 6 B-cell lymphomas and 8 pseudolymphomas) and from 22 normal individuals for the presence of EBV DNA using the polymerase chain reaction (PCR) technique and in situ hybridization (ISH) on formalin-fixed paraffin-embedded tissue sections. EBV DNA was identified by PCR in one of two cases of mycosis fungoides, in one of seven cases of pleomorphic T-cell lymphomas, in one case of centroblastic (CB) lymphoma of six B-cell lymphomas, and in three of eight pseudolymphomas. The EBV genome was also found in 2 of 22 specimens of normal skin. The small EBV-encoded nuclear RNAs, EBERs, were not detected in any PCR-positive sample by ISH. Based on our PCR and ISH findings, EBV does not seem to play a significant role in the development of cutaneous lymphomas.

Base Sequence↗
PubMed1994

Gingival metastasis as first sign of an undifferentiated carcinoma of the lung.

BACKGROUND: Metastases of internal tumors to the oral cavity are unusual and involve in most cases maxilla and mandible. Metastases to the gingival soft tissue are extremely rare. OBJECTIVE: To report a case of gingival metastasis from undifferentiated carcinoma of the lung. METHODS: The lesion was removed and hematoxylin and eosin sections were performed. Immunohistochemical investigations were performed with a standard three-step immunoperoxidase technique on formalin-fixed, paraffin-embedded tissue sections using anti-CEA, anti-S-100, HMB45, and anti-LCA antibodies. RESULTS: Based on clinicopathologic findings, a diagnosis of metastasis from undifferentiated carcinoma of the lung was established. Further investigations revealed a primary undifferentiated carcinoma of the lung. CONCLUSION: Metastasis from internal neoplasms should be considered among other differential diagnoses in the evaluation of gingival tumors. In the present case, onset of oral lesion preceded detection of the primary lung tumor. Complete screening of the patient should therefore follow a diagnosis of gingival neoplasm of unknown origin.

Aged↗