1/15. The role of trisomy 8 in the pathogenesis of chronic eosinophilic leukemia.A case of chronic eosinophilic leukemia (CEL) manifesting as spinal cord compression by an extradural eosinophilic chloroma in a 32-year-old Chinese man was presented, who subsequently developed extramedullary transformation at the skin and then peritoneal cavity. Cytogenetic study of bone marrow cells at diagnosis showed a clonal karyotypic abnormality of trisomy 8 ( 8), which on fluorescence in situ hybridization (FISH) was shown to be present in a clone of abnormal eosinophils, hence showing the neoplastic nature of the eosinophilic proliferation. There was another population of abnormal eosinophils that did not show 8. At blastic transformation, all blast cells in ascitic fluid were shown by FISH to harbor 8. These findings suggest that 8 in this case may have arisen from clonal evolution and is not the primary genetic event in leukemogenesis, but 8 most probably imparts a further survival advantage to the clone responsible for subsequent blastic transformation.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/15. A solitary cutaneous tumor with distinct areas of verruca and seborrheic keratosis-like lesion.A single, exophytic, cutaneous tumor on the thigh of a 52-year-old man was examined by light microscopy, in situ hybridization and immunohistochemistry. It demonstrated distinct areas of verruca and of seborrheic keratosis-like morphology simultaneously. Focally, architectural abnormalities were noted in some deeper parts of the tumor, but there was no morphological evidence of malignancy. The patient has remained disease-free for two and a half years after surgery. Biotinylated full genomicDNA probes of HPV confirmed the presence of types 6/11 exclusively in the verrucous portion of the neoplasm. In the verrucous component p53 protein was overexpressed and, additionally, increased Ki-67 immunopositive signals were detected, being localized below the HPV-DNA-expressing spinous cells.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/15. Giant-sized condyloma of the breast with focal acantholytic changes.BACKGROUND: A healthy 26-year-old pregnant woman presented with a 6.0-cm exophytic mass in her left inframammary fold. The lesion was surgically excised. methods: Histopathologic sections of the skin lesion were reviewed in hematoxylin and eosin-stained slides. Additional sections were studied by an in situ hybridization method for human papillomavirus DNA (HPV) types 6 and 11. RESULTS: The histopathologic examination demonstrated a benign exophytic, verrucous and papillary epidermal proliferation with features of condyloma acuminatum. Reactivity to HPV DNA types 6 and 11 was demonstrated by in situ hybridization method. The epidermis adjacent to, and focally within, the neoplasm showed multiple areas of suprabasilar and intraepidermal acantholysis without dyskeratosis. CONCLUSIONS: Condylomas related to HPV 6 and 11 may be found in extragenital locations including conjunctiva, oral and nasal mucosa. To our knowledge, however, the extragenital condylomas described in the literature have not included the giant-sized variant. We describe an example of a benign, giant-sized condyloma acuminatum of the breast with nearby acantholytic alterations similar to Hailey-Hailey disease.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
4/15. Multiple palmar epidermoid cysts.Implantation of epidermal fragments into the dermis has been pointed out as the cause of common epidermal cysts. However, some palmoplantar epidermoid cysts have been reported to be caused by human papillomavirus (HPV) infection or to be derived from eccrine ducts. A 65-year-old left-handed woman presented with extraordinary multiple epidermoid cysts on the palm and volar aspect of the fingers of her left hand. HPV infection was not detected by immunohistochemistry, in situ hybridization and polymerase chain reaction. Histological investigation revealed syringeal structures within the cyst wall and in the cyst cavity. carcinoembryonic antigen was observed in these syringeal structures but was not specifically stained in the cyst wall cells by immunohistochemistry. The cytokeratin composition of the cyst wall cells was similar to that of the nonadnexal epidermis.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/15. Pallister-Mosaic syndrome and neuronal migration disorder.We diagnosed Pallister-Mosaic syndrome (PMS) in a 4-month-old female infant. In addition to the presence of non-specific anomalies, involving anorectal, finger and ear anomalies, characteristic cranio-facial features and irregular skin lesions that appeared after age 2 months suggested the possibility of genetic mosaicism, PMS in particular. fluorescence in situ hybridization technique revealed an extra copy of chromosome 12p; i (12p) in 30% of cultured skin fibroblasts. When focal skin lesions accompany neurodevelopmental disabilities in early infancy, genetic analysis for mosaicism should be considered for differential diagnosis. Significantly, we describe several phenotypic features and neuroimaging findings of the PMS in the present case, which have not been described in previous reports. The neuroimaging abnormalities we encountered, such as polymicrogyria, speculating congenital brain anomaly, may explain the severe motor and intellectual disabilities of PMS.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/15. Post-transplant T-cell lymphoproliferative disorder/T-cell lymphoma: a report of three cases of T-anaplastic large-cell lymphoma with cutaneous presentation and a review of the literature.AIMS: To report the clinical, pathological and immunohistochemical features of three cases of post-transplant T-cell lymphoproliferative disorder (T-PTLD) T-cell lymphoma with primary cutaneous presentation. methods AND RESULTS: Three cases of primary cutaneous post-transplantation anaplastic large-cell lymphomas occurred in renal transplant recipients and were shown to display a T-cell immunophenotype; all were ALK 1 protein and EMA negative and two were Epstein-Barr virus positive using in-situ hybridization. Two displayed a CD4 phenotype, two were focally CD56 and all three were negative for the cytolytic enzyme granzyme B. In two cases monoclonality was established by T-cell receptor gene rearrangement study. All presented with nodular cutaneous involvement and all were ultimately fatal. CONCLUSION: T-PTLDs are uncommon histological subtypes both in a general context and associated with cutaneous presentation. Our findings suggest clinicopathological and immunophenotypic similarities to primary cutaneous anaplastic large-cell lymphoma but with a progressive clinical behaviour similar to previously reported T-PTLD and to systemic nodal ALK- anaplastic large-cell lymphoma.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
7/15. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.We report four patients with an interstitial deletion of chromosome 2q32-->2q33. They presented similar clinical findings including pre- and postnatal growth retardation, distinct facial dysmorphism, thin and sparse hair and fair built, micrognathia, cleft or high palate, relative macroglossia, dacrocystitis, persisting feeding difficulties, inguinal hernia and broad based gait. All were severely mentally retarded. Three patients had a specific behavioral phenotype with hyperactivity and motor restlessness, chaotic behavior, happy-personality but with periods of aggression and anxiety, sleeping problems and self-mutilation. (head-banging). Array CGH and fluorescence in situ hybridization (FISH) allowed us to delineate the deletion size and showed that the four patients share a 8.1 Mb minimal deleted region. Reviewing additional nine case reports of patients with similar deletions showed striking phenotypic similarities which enabled the delineation of the 2q32.2q33 syndrome. Deletion of 2q32 has been also associated with the wrinkly skin syndrome (WWS) and isolated cleft palate. Although the patients presented here shared many aspects of WWS, they did not had the wrinkly skin. All patients had a cleft or high palate, most likely as a result of hemizygosity for SATB2. A potential commonly deleted interval of the three patients with behavioral problems, excluding the deletion in the patient without behavioral problems, is at most 0.5 Mb in size harboring only two genes.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/15. Cutaneous cytomegalovirus infection in a liver transplant patient. diagnosis by in situ DNA hybridization.A 39-year-old woman who had cryptogenic cirrhosis and who had received two liver transplants developed necrotic skin lesions over the chest, upper arms, and thighs. biopsy showed enlarged endothelial cells with intranuclear and intracytoplasmic inclusions characteristic of cytomegalovirus (CMV) infection. However, a few multinucleated gaint cells were observed beneath a necrotic epidermis. This, combined with the clinical presentation, suggested to infectious disease consultants an infection with herpes simplex virus. Using the immunoperoxidase technique, inclusions stained positively with antibody to CMV and showed a negative reaction for herpes simplex antigen. in situ hybridization using biotinylated dna probes on formalin-fixed, paraffin-embedded tissue sections confirmed the diagnosis of CMV infection and failed to substantiate infection with herpes simplex virus. Subsequently, blood cultures became positive for CMV. The early recognition of CMV infection in the skin permitted institution of antiviral therapy with gancyclovir. Specific skin lesions of CMV infection are likely to be encountered with increasing frequency among immunosuppressed patients. Lesions may be vesicular, and epidermal multinucleated giant cells can occasionally be identified. in situ hybridization is a technique that is readily adaptable to surgical pathology laboratories and permits both a rapid, specific diagnosis and the early institution of appropriate therapy.- - - - - - - - - - ranking = 6keywords = hybridization (Clic here for more details about this article) |
9/15. epidermodysplasia verruciformis in a setting of common variable immunodeficiency.A 14-year-old native American female with common variable immunodeficiency was admitted for bone marrow transplantation. Preoperative evaluation showed a generalized lichenoid papular eruption present for several years. light microscopy revealed expansion of the epidermis by atypical keratinocytes; electron microscopy showed intranuclear papillomavirus inclusions within the granular keratinocytes; DNA hybridization revealed a type 5-related human papilloma virus homology. Four days after bone marrow transplantation the lichenoid papules blackened and began to disappear. Within 30 days after bone marrow transplantation the distribution and appearance of the papules was similar to that of the pretransplantation evaluation. One year after transplantation the patient showed evidence of a successful T lymphocyte graft. No transformation to squamous cell carcinoma had occurred. epidermodysplasia verruciformis has been associated with deficient cell-mediated immunity, the varying severity of which does not predict the tendency to neoplasm formation (2, 5). Several distinct human papillomavirus genomes have been recovered with DNA hybridization techniques in these patients. It is hoped that the bone marrow transplantation might be associated with diminished transformation to squamous cell carcinoma.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
10/15. Characterization of a human papillomavirus from epidermodysplasia verruciformis lesions of a patient from Upper-volta.A case of epidermodysplasia verruciformis in a patient from Upper-Volta is described. Slightly elevated, flat warts were observed on hands, feet, arms and legs, and pityriasis versicolor-like lesions were found mainly on the trunk. The patient showed no malignant tumors. Histological examination revealed hyperkeratosis, granulosis and moderate acanthosis with large, foamy, basophilic keratinocytes in stratum granulosum and stratum spinosum. Papillomavirus particles could be prepared from these lesions and were differentiated from known papillomavirus types by immune electron microscopy with monospecific antisera and by DNA-DNA hybridization. The viral DNA was characterized by cleavage with several restriction endonucleases and a physical map of the resulting fragments was established. The virus is designated as HPV 8. Preliminary seroepidemiologic studies with human sera indicate a rather wide distribution of HPV 8. Blot hybridization of DNA from human carcinomas with 32P-labelled virus DNA detected no HPV 8-specific sequences.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
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