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PubMed1992

p53 expression in Reed-Sternberg cells of Hodgkin's disease.

Mutation of the p53 protein may represent the commonest genetic event in human malignancy. Abnormal p53 expression has been reported in a variety of carcinomas, sarcomas and lymphoid neoplasms; however there is little information in relation to Hodgkin's disease. The expression of the nuclear phosphoprotein was investigated in paraffin-embedded biopsies from fifty patients with Hodgkin's disease using a polyclonal antibody, CM-1 and in snap-frozen material with monoclonal antibodies, PAb 1801 and PAb 240. Specifically, immunoreactivity was localised to the Reed-Sternberg cells or mononuclear variants in both nodular sclerosing (86% cases) and mixed cellularity (57% cases) subtypes of Hodgkin's disease. However, no positive staining was found in our cases of nodular lymphocyte predominant type Hodgkin's disease. Serial biopsies following recurrence of disease demonstrated consistent results. It is suggested that overexpression of p53, probably mutant, may have a role in the tumorigenesis of Hodgkin's disease.

Hodgkin Disease↗
PubMed2004

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

Worldwide variation in the distribution of BRCA1 and BRCA2 mutations is well recognised, and for the Belgian population no comprehensive studies about BRCA1/2 mutation spectra or frequencies have been published. We screened the complete coding region of both genes in 451 individuals from 349 Belgian families referred to a family cancer clinic and identified 49 families with a BRCA1 and 26 families with a BRCA2 mutation. Six major recurrent mutations (BRCA1 IVS5+3A>G, 2478-2479insG, E1221X and BRCA2 IVS6+1G>A, 6503-6504delTT, 9132delC) accounted for nearly 60% of all mutations identified. Besides 75 true pathogenic mutations, we identified several variants of unknown clinical significance. In combination with a family history, an early average age of female breast cancer diagnosis (P<0.001), and the presence of a relative with ovarian cancer (P<0.0001) or multiple primary breast cancers (P=0.002), increased the chance for finding a mutation. Male breast cancer was indicative of a BRCA2 mutation segregating in the family (P=0.002). Mutations in the 5'-end of BRCA1 and BRCA2 were associated with a significantly increased risk for ovarian cancer relative to the central portion of the gene. Our study suggests a role for additional breast cancer susceptibility genes in the Belgian population, since mutation detection ratios were low in high-risk breast cancer-only families as compared to breast-ovarian cancer families. Given the large proportion of recurring mutations, molecular testing can now be organised in a more cost-effective way. Our data allow optimisation of genetic counselling and disease prevention in Belgian breast/ovarian cancer families.

Adult↗
PubMed2005

FOXP1, a gene highly expressed in a subset of diffuse large B-cell lymphoma, is recurrently targeted by genomic aberrations.

The transcription factor Forkhead box protein P1 (FOXP1) is highly expressed in a proportion of diffuse large B-cell lymphoma (DLBCL). In this report, we provide cytogenetic and fluorescence in situ hybridization (FISH) data showing that FOXP1 (3p13) is recurrently targeted by chromosome translocations. The genomic rearrangement of FOXP1 was identified by FISH in three cases with a t(3;14)(p13;q32) involving the immunoglobulin heavy chain (IGH) locus, and in one case with a variant t(2;3) affecting sequences at 2q36. These aberrations were associated with strong expression of FOXP1 protein in tumor cells, as demonstrated by immunohistochemistry (IHC). The cases with t(3p13) were diagnosed as DLBCL ( x 1), gastric MALT lymphoma ( x 1) and B-cell non-Hodgkin's lymphoma, not otherwise specified ( x 2). Further IHC and FISH studies performed on 98 cases of DLBCL and 93 cases of extranodal marginal zone lymphoma showed a high expression of FOXP1 in approximately 13 and 12% of cases, respectively. None of these cases showed, however, FOXP1 rearrangements by FISH. However, over-representation of the FOXP1 locus found in one additional case of DLBCL may represent another potential mechanism underlying an increased expression of this gene.

Aged↗
PubMedDate not supplied

[Spontaneous occlusion of a thoracic duct fistula following leftsided shoulder girdle amputation].

Reference is made to the anatomy and variant courses of the thoracic duct, as well as to possibilities of surgical and conservative therapy. A chylous fistula developed in a 53-year old man after his left shoulder girdle had been amputated because of a recurrent low grade chondrosarcoma. Nineteen liters of chyle were excreted over a 5-week period. It was possible to achieve a spontaneous occlusion of the fistula by means of repeated punctures, compression bandages, and a low-fat diet.

Amputation, Surgical↗
PubMed1986

Myocardial infarction in a young man with systemic lupus erythematosus, deep vein thrombosis, and antibodies to phospholipid.

From the age of 17 a young man had recurrent venous thrombosis, with pulmonary embolism on two occasions. Laboratory investigations showed increased DNA binding, thrombocytopenia, positive antinuclear antibodies, and immunoglobulin A deficiency. A plasminogen activator deficiency was suspected because the euglobulin lysis time was considerably prolonged. Variant lupus was diagnosed. He had a severe myocardial infarct at the age of 20 and subsequent investigations showed the presence in serum of the lupus anticoagulant and antibodies to cardiolipin. The presence of these antiphospholipid antibodies explains the features of his illness and establishes that this case fits into a subset of systemic lupus erythematosus characterised by thrombotic events.

Adolescent↗
PubMed1976

Recurrence risks in children having one parent with a congenital heart disease.

The risk of recurrence of a congenital cardiovascular malformation in a child having one parent with congenital heart disease has been determined for each of the seven most common anomalies presently compatible with survival to reproductive age. The range of risk is 2.5% to 4.3% depending on the lesion. This is within the range of expectation for the model of multifactorial inheritance previously used to predict recurrence in other first-degree relatives of probands (siblings and parents) with congenital heart disease. The cardiovascular abnormality occurring in the child was most often the same as in the parent or was a closely related variant of it.

Adult↗
PubMed2000

Small-colony variants of Staphylococcus aureus.

Staphylococcus aureus remains a versatile and dangerous pathogen. Small-colony variants (SCVs) of S. aureus are a naturally occurring sub-population, first described nearly 100 years ago. These variants, of which there are different classes, grow slowly and have many atypical characteristics thought to be due to defective electron transport, and include minute colony forms. SCVs have been isolated from sites of infection, particularly persistent recurrent ones (e.g. in chronic osteomyelitis and cystic fibrosis), and also may arise following exposure to certain antibiotics. During infection the intraendothelial-cell milieu stimulates the formation of SCVs, which can better survive the assault of cell-mediated immunity. SCV phenotypes produce less tissue damage than normal staphylococci. Although microscopic morphology and Gram's staining of SCVs are normal, clinical microbiology laboratories may fail to detect them because of their very slow growth. The full extent of the role of S. aureus SCVs in clinical disease, and the most appropriate means of identifying such strains or testing to predict the clinical usefulness of therapeutic regimens, remains unknown. Failure to recover SCVs results in a major susceptibility reporting error, as the more resistant component of the infection will not have been reported. No controlled trials of therapy have been conducted, and, thus, optimal therapy has yet to be defined. However, SCVs are resistant to aminoglycoside antibiotics, and may be resistant to trimethoprim-sulphmethoxazole. The effectiveness of cell-wall-active antibiotics is reduced. SCVs are transmissible, and current infection control recommendations for normal S. aureus infections are appropriate.

Humans↗
PubMed2002

[A young patient with endometrioid adenocarcinoma who suffered Trousseau's syndrome associated with vasculitis].

A 27-year-old woman was admitted to our hospital because of headache, fever and right neck pain. Neurological examination revealed mild meningeal signs, and hyper-reflexia in all extremities. In the laboratory tests, white-cell count was 13,000/mm3, rheumatoid factor(RF) and C-reactive protein(CRP) were positive. The cerebro-spinal fluid showed pleocytosis (56/mm3, neutorophils and lymphocytes were 26 and 28, respectively). Thus, she was diagnosed as aseptic meningitis. A few days later, she had weakness and dysesthesia of the right face and the left extremities. Pulse therapy with intravenous methylprednisolone was started. A magnetic resonance imaging (MRI) of the brain showed a hemorrhagic infarction in the right parietal lobe. In hemostatic markers, thrombin-antithrombin III complex(TAT; 106 ng/dl), D-dimer 1234 ng/dl, prothrombin fragment 1 + 2(F1 + 2; 2.36 nmol/L), beta-thromboglobulin (beta TG; 4,300 ng/dl) and platelet factor 4 (PF-4; 1,770 ng/dl) were extremely elevated. On duplex ultrasonography, a low echo lucent plaque was observed at the right internal carotid artery and the mean blood flow velocity in the right carotid artery was decreased. She was placed on oral prednisolone and warfarin for suspected stroke due to hypercoagulability associated with vasculitis. Afterwards, she discharged from our hospital. Two months later, she was readmitted to our hospital because of irregular menses and vaginal bleeding. Endometrial uterus biopsy was conducted, which revealed a grade I endometrioid adenocarcinoma. She was under total uterectomy without tumor recurrence. After the radical operation, white-cell count, RF, CRP, TAT, D-dimer, F1 + 2, and beta TG were normalized, and the mean flow velocity of the right common carotid artery was increased. Thereafter, she did not experience stroke recurrence. Therefore, we speculated that she had stroke due to hypercoagulability in association with malignancy, that is Trousseau's syndrome. We also assumed that aseptic meningitis, brainstem encephalitis associated with vasculitis in this patient are other clinical variants of paraneoplastic syndrome through immunological mechanisms associated with malignancy. We emphasize that patients with Trousseau's syndrome can be associated with other paraneoplastic manifestations such as vasculitis as seen in this patient.

Adenofibroma↗
PubMed1979

[Combined internal and external drainage of pancreatic cysts].

The results of combination of the internal and external drainage of pancreatic cysts in 9 patients are presented. Four variants of the external drainage of cysts after cysto-gastrocystojejunostomy are described. A prolonged washing of the cyst in early postoperative period results in the rapid diminishing of the cyst and in prevention of complications and recurrence of the disease.

Drainage↗
PubMedDate not supplied

Lipomatous medulloblastoma.

A case of cerebellar lipomatous medulloblastoma in a 55-year-old male subject, clinically presenting with signs of intracranial hemorrhage and cerebellar dysfunction, is described. Magnetic resonance imaging revealed an enhancing irregular vermian lesion invading the left cerebellar hemisphere. The patient underwent a craniotomy with total excision of tumor. Histologic examination revealed that a large portion of the tumor was composed of mature adipocytes. Lipoblasts with multiple vacuoles were not detected. Remaining tumor exhibited morphological, ultrastructural, and immunohistochemical features of medulloblastoma with both neuronal and glial differentiation. DNA analysis by flow cytometry revealed that the neoplasm was aneuploid. After 8 months, a new magnetic resonance imaging did not show any recurrence and the patient was free of symptoms. Morphological and immunohistochemical features, together with the age at the time of surgery and DNA content, suggest that lipomatous medulloblastoma is to be considered as a rare but distinct variant of medulloblastoma.

Cell Differentiation↗
PubMed2002

Protein kinase cepsilon has the potential to advance the recurrence of human prostate cancer.

Prostatic epithelial cells that are capable of surviving in the absence of androgenic steroids were found to express protein kinase Cepsilon (PKCepsilon), an oncogenic protein capable of promoting autocrine cell-signaling events. Gene transfer experiments demonstrated that PKCepsilon overexpression was sufficient to transform androgen-dependent LNCaP cells into an androgen-independent variant that rapidly initiated tumor growth in vivo in both intact and castrated male nude mice. This transformation was associated with an accelerated rate of androgen-independent LNCaP cell proliferation, resistance to apoptosis, hyperphosphorylation of the mitogen-activated protein kinase extracellular signal-regulated kinase and transcriptional repressor protein retinoblastoma, and increased expression of E2F-1 and other 5'-cap-dependent mRNAs, including the G(1) cyclins, c-myc, and caveolin-1. Coimmunoprecipitation experiments indicated that PKCepsilon was associated with members of the extracellular signal-regulated kinase signaling cascade and the scaffolding protein caveolin-1. Caveolin-1, produced by LNCaP cells overexpressing PKCepsilon, was released into the medium, possibly through a Golgi-independent route, and significant growth inhibition was observed when these cells were cultured in the presence of an anti-caveolin-1 antiserum. Finally, antisense experiments established that endogenous PKCepsilon plays an important role in regulating the growth and survival of androgen-independent prostate cancer cells. This study provides several independent lines of evidence supporting the hypothesis that PKCepsilon expression may be sufficient to maintain prostate cancer growth and survival after androgen ablation.

Caveolin 1↗
PubMed1999

The VITA project: prothrombin G20210A mutation and venous thromboembolism in the general population.

Recently a new identified genetic variant in the 3'-untranslated region of the prothrombin gene (G20210A allele) associated with increased plasma prothrombin levels has been linked to an increased risk of venous thromboembolism (VTE). Most of our knowledge on the G20210A allele as a risk factor for VTE derives from a population-based case-control study and from studies on selected series of VTE patients. To determine the importance of the G20210A allele as a causative risk factor for VTE in the general population, we analyzed the cross-sectional data of the Vicenza Thrombophilia and Atherosclerosis (VITA) Project. One hundred sixteen cases of VTE, ascertained in a random fashion within the general population aged 18-65, were age and sex-matched with 232 healthy subjects. Heterozygosity for the G20210A allele was present in 4.3% of VTE cases and in 3.4% of controls, indicating a marginal increase of VTE risk in carriers of the allele (odds ratio: 1.26; 95% CI 0.4-3.9). However, the VTE risk was substantially higher in subjects with idiopathic VTE before age 45 or with recurrent, idiopathic VTE (odds ratio: 2.8; 95% CI 0.6-13.8) or in subjects with a family history of VTE (odds ratio: 7.6; 95% CI 1.8-32.8). Accordingly, our results suggest that the G20210A allele associates with VTE only in selected cases, and that screening for this genetic variant is not warranted for all patients with VTE.

3' Untranslated Regions↗
PubMed1989

Superficial malignant schwannoma on the face: a case for early radical surgery.

A case of superficial epithelioid schwannoma is presented. The lesion arose as a skin papule in the infra-orbital region and recurring repeatedly over a five-year period, caused significant local morbidity without metastasis. Radical surgery was delayed in the hope of preserving binocular vision. The similarity of this tumour with a rare variant of malignant melanoma, the neurotropic melanoma, is discussed.

Facial Neoplasms↗
PubMed1979

Desmoplastic malignant melanoma: study of a case by light and electron microscopy.

This article is a study by light and electron microscopy of a case of desmoplastic malignant melanoma that attempts to resolve the conflict in views regarding the nature of the cells responsible for the desmoplasia associated with this clinico-pathologic entity. On the basis of evidence presented, it is concluded that the cells are dedifferentiated cells of the malignant melanoma with fibroblastic features and probably fibroblastic functions rather than host-engendered fibrolbasts in response to invasive melanoma. The evidence consists of the finding of macular desmosomes between those cells, a feature previously noted in amelanotic and melanotic melanomas, the finding of others by electron microscopy of fibroblast-like cells in spindle-cell squamous carcinomas, and the finding by light microscopy of features of vascular invasion of the malignancy. That the diagnosis of this variant of malignant melanoma by pattern can be made by light microscopy is reaffirmed.

Aged↗
PubMed2000

[Agressive fibromatosis].

Aggressive fibromatosis is a rare soft tissue tumour with a high tendency to local recurrence. The patients often present with a deeply sited, firm mass with or without pain. Genetic, physical and endocrine factors seem to be important in the development of the disease. Patients with Gardner's syndrome and familial adenomatous polyposis have a higher risk of developing aggressive fibromatosis and often develop tumours in the mesentery, retroperitoneally or in the abdominal wall. Infantile fibromatosis is a variant of aggressive fibromatosis. The standard treatment of aggressive fibromatosis is surgical resection with wide free margin, in some cases supplemented with radiotherapy. Chemotherapy and hormonal treatment of non-resectable tumours has been described without convincing results and more data from clinical studies are needed.

Desmoid Tumors↗
PubMed2006

Is melanocytic nevus with focal atypical epithelioid components (clonal nevus) a superficial variant of deep penetrating nevus?

BACKGROUND: We compare features of two similar nevi which may be confused with melanoma: deep penetrating nevus (DPN), and nevus with focal atypical epithelioid component (NFAEC). METHODS: Clinical/demographic and histologic information regarding 146 DPN and 81 NFAEC were compared. Patient outcomes were ascertained via a questionnaire solicited to the referring physicians. RESULTS: Clinical features were similar for each type of nevus. Histologically, all lesions demonstrated identical aggregates of epithelioid melanocytes. DPN more often extended into the deep dermis or subcutaneous tissue, while NFAEC was typically confined to the superficial dermis. NFAEC more often demonstrated a junctional component (P < .001) and coexistent common nevus with congenital features (P = .035). DPN more often demonstrated adnexal spread (P < .001). A subgroup with overlapping features was identified. With an average of 6.4 years follow-up, there were just two recurrences, and no metastases. LIMITATIONS: This retrospective study utilized tissue specimens from a single reference laboratory; ergo, some inherent selection bias exists. Specimens were randomly selected for P53 immunostaining, leading also to potential sampling error. CONCLUSIONS: DPN and NFAEC show considerable similarity, differing mainly in the depth of extent for the lesion. It is possible that NFAEC represents a more superficial variant of DPN. A subgroup with overlapping features, but intermediate depth, supports such a relationship.

Adolescent↗