OBJECTIVETo explore the utility of fluorescence in situ hybridization as a diagnostic tool for cutaneous melanoma.

METHODSTwenty cutaneous melanomas and 20 cutaneous nevi from pathology files were selected and analyzed by Vysis melanoma FISH probe kit targeting 3 loci on chromosome 6 (MYB, CEP6 and RREB1) and 1 locus on 11q (CCND1) and data were interpreted based on the Abbott criteria provided by the kit.

RESULTSInformative FISH results were obtained in 16 melanomas and 18 nevi. Chromosomal aberrations were detected in 12 of the 16 melanomas and only 1 of 18 nevi.

CONCLUSIONFISH is a useful diagnostic tool and able to distinguish cutaneous nevus from melanoma with good sensitivity and specificity.

Chromosome Aberrations ; Cyclin D1 ; genetics ; Diagnosis, Differential ; Humans ; In Situ Hybridization, Fluorescence ; Melanoma ; diagnosis ; genetics ; Nevus ; diagnosis ; Sensitivity and Specificity ; Skin Neoplasms ; diagnosis ; genetics

Carney complex is a multiple neoplasia syndrome, inherited in an autosomal dominant manner, that is characterized by lentigines, cardiac myxoma, and numerous endocrine and other tumors, including primary pigmented nodular adrenocortical disease. Here, we describe a typical case of Carney complex in a 27- year-old female who exhibited spotty skin pigmentation on the lips, oral mucosa, fingers, and toes and several manifestations of Cushing's syndrome due to primary pigmented nodular adrenocortical disease. She also had pituitary adenoma, breast tumor and thyroid nodule. Only a few cases of this disorder have been reported in the Korean literature. All of them, however, had only two components of Carney complex: composed of skin pigmentation and primary pigmented nodular adrenocortical disease. Therefore, the present case seems to be the first true case of Carney complex reported in Korea.
Adult ; Cushing Syndrome/*diagnosis ; Female ; Human ; Hyperpigmentation/diagnosis ; Magnetic Resonance Imaging ; Multiple Endocrine Neoplasia/diagnosis ; Myxoma/*diagnosis/genetics ; Neoplasms, Multiple Primary/*diagnosis ; Pituitary Neoplasms/*diagnosis ; Skin Neoplasms/*diagnosis/genetics ; Syndrome

Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant genodermatosis characterized by cutaneous hair follicle tumors (fibrofolliculoma or trichodiscoma), pulmonary cysts, and increased risk of renal neoplasia. The genetic alteration for BHDS has been mapped to chromosome 17p12q11, and the gene in this region has been cloned and believed to be responsible for the BHDS. Mutations in the BHD gene (also known as FLCN) have been described in the patients with BHDS. We present a case of a 30-yr-old Korean woman with multiple mildly pruritic papules on her face and neck area. The patient had several firm, flesh-colored, dome-shaped, papular lesions measuring between 2 to 5 mm. Except for a history of pneumothorax her medical records were not remarkable. Mutation analysis of the BHD gene was performed, and a novel deletion mutation (p.F519LfsX17 [c.1557delT]) causing truncation of the gene product, folliculin, was found in the exon 14. The actual incidence of BHDS is unknown, but it is most likely underdiagnosed. So it is imperative that doctors recognize the skin lesions of BHDS and institute proper screening to detect other manifestations of the disease. Here, we report a case of BHDS with a novel mutation, which is the first report in Korea.
Adult ; Biopsy ; DNA Mutational Analysis ; Diagnosis, Differential ; Estrone/biosynthesis ; Exons ; Female ; Gene Deletion ; Genetic Predisposition to Disease ; Humans ; Kidney Neoplasms/genetics ; Models, Genetic ; Mutation ; Skin Diseases/diagnosis/*genetics ; Syndrome

No abstract available.
Base Sequence ; Child, Preschool ; DNA/chemistry/metabolism ; Female ; Humans ; Mutation ; Nevus, Pigmented/diagnosis/*genetics ; Polymorphism, Single Nucleotide ; Proto-Oncogene Proteins p21(ras)/*genetics ; Republic of Korea ; Skin/pathology ; Skin Neoplasms/diagnosis/*genetics ; Syndrome

OBJECTIVETo update the clinical characteristics of mycosis fungoides in Chinese patients.

METHODWe retrospectively analyzed the clinical data of 51 patients (29 men and 22 women) with mycosis fungoides in PUMC hospital from 1984 to 2006, to determine the ages at diagnosis, clinicopathologic characteristics of skin lesions, systemic manifestation, misdiagnosis and treatment of these patients.

RESULTSThe mean age was (44.24 +/- 2.05) years at the diagnosis. Most patients were characterized by the typical evolution of patches, plaques and tumors, with some variations and subtypes. Clinical manifestations included generalized lesions (68.6%) and itchy (70.6%). Epidermotropism (68.6%) and Pautrier's microabscesses (52.9%) were common histopathologic features. The positive rate of T-cell receptor gene rearrangement was 81.3%, and was independent of the histological features. Previous misdiagnosis rate was 64.7%. Skin-targeted therapies and biologic therapies were effective approaches to relieve the skin rash at early stage, and combined chemotherapy was typically applied in more advanced cases.

CONCLUSIONMycosis fungoides has various clinical characteristics and careful differential diagnosis should be made in clinical practice.

Diagnostic Errors ; Female ; Gene Rearrangement ; Humans ; Male ; Mycosis Fungoides ; diagnosis ; pathology ; Receptors, Antigen, T-Cell ; genetics ; Retrospective Studies ; Skin Neoplasms ; diagnosis ; pathology

BACKGROUNDExtranodal natural killer/T-cell (NK/T cell) lymphoma, nasal-type, is a rare lymphoma. Skin is the second most common site of involvement after the nasal cavity/nasalpharynx. The aim of this study was to investigate the clinicopathologic features, immunophenotype, T cell receptor (TCR) gene rearrangement, the association with Epstein-Barr virus (EBV) infection and p53 gene mutations of the lymphoma.

METHODSThe clinicopathologic analysis, immunohistochemistry, in situ hybridization for EBER1/2, TCR gene rearrangement by polymerase chain reaction (PCR), mutations of p53 gene analyzed by PCR and sequence analysis were employed in this study.

RESULTSIn the 19 cases, the tumor primarily involved the dermis and subcutaneous layer. Immunohistochemical staining showed that most of the cases expressed CD45RO, CD56, CD3ε, TIA-1 and GrB. Three cases were positive for CD3 and two cases were positive for CD30. Monoclonal TCRγ gene rearrangement was found in 7 of 18 cases. The positive rate of EBER1/2 was 100%. No p53 gene mutation was detected on the exon 4 - 9 in the 18 cases. Fifteen cases showed Pro (proline)/Arg (arginine) single nucleotide polymorphisms (SNPs) on the exon 4 at codon 72. The expression of p53 protein was 72% (13/18) immunohistochemically.

CONCLUSIONSCutaneous NK/T-cell lymphoma is a rare but highly aggressive lymphoma with poor prognosis. No p53 gene mutation was detected on the exon 4 - 9, and Pro/Arg SNPs on p53 codon 72 were detected in the cutaneous NK/T-cell lymphoma. The overexpression of p53 protein may not be the result of p53 gene mutation.

Adolescent ; Adult ; Aged ; Child ; Epstein-Barr Virus Infections ; diagnosis ; genetics ; metabolism ; Female ; Humans ; Immunohistochemistry ; Immunophenotyping ; In Situ Hybridization ; Lymphoma, T-Cell ; diagnosis ; genetics ; metabolism ; Male ; Middle Aged ; Mutation ; Receptors, Antigen, T-Cell ; genetics ; metabolism ; Skin Neoplasms ; diagnosis ; genetics ; metabolism ; Tumor Suppressor Protein p53 ; genetics ; Young Adult

Mycosis fungoides (MF), the most common type of cutaneous T-cell lymphoma, has various unspecific clinical and histological characteristics. Its early diagnosis is challenging. The application of T-cell receptor (TCR) gene clonal rearrangement to the diagnosis of MF has been widely studied. In this study, we used polymerase chain reaction (PCR) to investigate the diagnostic significance of detecting TCR-γ and -β gene clonal rearrangement in the early diagnosis of mycosis fungoides. PCR for TCR-γ and TCR-β gene rearrangement was performed on 19 patients with suspected early MF, 6 with typical MF, and 6 with chronic dermatitis. Of the 19 patients with suspected early MF, 13 had TCR-γ gene clonal rearrangement, whereas none had TCR-β gene clonal rearrangement. All patients with typical MF had TCR gene clonal rearrangement, in which 4 showed TCR-γ clonal rearrangement, 1 showed TCR-β gene clonal rearrangements, and 1 showed both. No patients with chronic dermatitis had TCR gene clonal rearrangement. These results indicate that TCR gene clonal rearrangement analysis is a useful tool in diagnosing early MF. TCR-γ gene is recommended to the routine analysis, whereas TCR-β gene has potential in combination toward intractable cases.
Adolescent ; Adult ; Aged ; Base Sequence ; genetics ; DNA, Neoplasm ; genetics ; Early Detection of Cancer ; methods ; Female ; Gene Rearrangement, beta-Chain T-Cell Antigen Receptor ; Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor ; Humans ; Male ; Middle Aged ; Mycosis Fungoides ; diagnosis ; genetics ; Polymerase Chain Reaction ; Skin Neoplasms ; diagnosis ; genetics ; Young Adult

OBJECTIVETo explore the diagnostic implication of immunophenotyping and gene rearrangement in subcutaneous panniculitis-like T-cell lymphoma (SPTL).

METHODSAccording to the selection criteria of 2005 WHO-EORTC classification for cutaneous lymphomas, 20 SPTL patients were enrolled in this study. A 10-antibody panel was used for immunophenotyping and in addition, polymerase chain reaction for TCR gamma and IgH gene rearrangement and in situ hybridization for EBER1/2 were also employed.

RESULTSThere were 9 males and 11 female with a mean age of 29.5 years. Immunophenotypic study showed that all the patients expressed one to three T-cell associated antigens (CD2, CD3 or CD45RO), 18 patients were positive for beta F1, 18 for CD8, 20 for TIA-1 and 16 for granzyme B. None of the patients expressed CD4, CD20 and CD56. TCR gamma gene rearrangement was found in 16 of 20 cases (80.0%) and none for IgH gene rearrangement. The positive rate of EBER1/2 was 25.0% (5/20).

CONCLUSIONSSince the majority of SPTL patients show clonal TCR gene rearrangements, correlations among clinical presentation, histological features, immunophenotype and gene rearrangement data are considered important in confirming a diagnosis of SPTL.

Adolescent ; Adult ; Antigens, CD20 ; immunology ; CD56 Antigen ; analysis ; immunology ; Child ; Female ; Gene Rearrangement ; genetics ; Humans ; Immunophenotyping ; methods ; In Situ Hybridization ; Lymphoma, T-Cell ; classification ; diagnosis ; genetics ; immunology ; Lymphoma, T-Cell, Cutaneous ; classification ; diagnosis ; genetics ; immunology ; Male ; Middle Aged ; Panniculitis ; RNA, Viral ; immunology ; isolation & purification ; Skin Neoplasms ; immunology ; Subcutaneous Tissue ; Young Adult

CD4 Antigens ; metabolism ; CD56 Antigen ; metabolism ; Dendritic Cells ; pathology ; Diagnosis, Differential ; Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor ; Hematologic Neoplasms ; drug therapy ; genetics ; metabolism ; pathology ; surgery ; Humans ; Immunohistochemistry ; Leukemia, Myeloid ; pathology ; Lymphoma, Extranodal NK-T-Cell ; pathology ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma ; pathology ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma ; pathology ; Skin Neoplasms ; drug therapy ; genetics ; metabolism ; pathology ; surgery

OBJECTIVETo investigate the significance of detecting TCR gene clonal rearrangement in the diagnosis of mycosis fungoides (MF) and to optimize the primers used for detecting the TCR gene clonal rearrangement with PCR in paraffin embedded tissues of MF.

METHODSNineteen cases of MF were enrolled into the study. A panel of 10 antibodies were used for immunophenotypic analysis and polymerase chain reaction for TCR-γ and TCR-β gene rearrangement detection in this study.

RESULTSTCR gene clonal rearrangements were detected in all 19 cases, in which 84.2% cases (16/19) had TCR-γ gene clonal rearrangements. The positive rates of the primers T(VG)/T(JX), V(2-5)/V(8-12)/JGT(1) and BIOMED-2-TCR-γ were 47.4%, 78.9% and 31.6%, respectively. The positive rate of V(2-5)/V(8-12)/JGT(1) was statistically significantly higher than that of T(VG)/T(JX) and BIOMED-2-TCR-γ (P < 0.05). No TCR gene clonal rearrangement was detected using the primers V(γ11)/V(γ101)/Jγ12 and V(γ11)/V(γ101)/J(p12). TCR-β gene clonal rearrangement was detected in 31.6% (6/19) cases.

CONCLUSIONSTCR gene clonal rearrangement analysis is a useful tool in the diagnosis of MF and TCR-γ gene is a good target gene for the detection. The primers T(VG)/T(JX), V(2-5)/V(8-12)/JGT(1) and BIOMED-2-TCR-γ can be used in clinicopathologic detection for TCR gene clonal rearrangement and V(2-5)/V(8-12)/JGT(1) may be the first choice.

Adolescent ; Adult ; Aged ; Antigens, CD7 ; metabolism ; Base Sequence ; CD2 Antigens ; metabolism ; CD3 Complex ; metabolism ; CD4 Antigens ; metabolism ; Child ; Child, Preschool ; Female ; Gene Rearrangement, beta-Chain T-Cell Antigen Receptor ; Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor ; Humans ; Leukocyte Common Antigens ; metabolism ; Male ; Middle Aged ; Molecular Sequence Data ; Mycosis Fungoides ; diagnosis ; genetics ; metabolism ; pathology ; Paraffin Embedding ; Receptors, Antigen, T-Cell, alpha-beta ; genetics ; Receptors, Antigen, T-Cell, gamma-delta ; genetics ; Skin Neoplasms ; diagnosis ; genetics ; metabolism ; pathology ; Young Adult