Gastric mucosa-associated lymphoid tissue (MALT) lymphoma is generally associated with Helicobacter pylori infection and, in the great majority of patients, regresses after eradication. H. ...pylori-negative MALT lymphoma occurs in a small minority of cases in which treatment is based on surgery or chemoradiotherapy. In the search for H. pylori based on histology and the C13 urea breath test, this report describes a case with a series of false-negative results, thus confirming the possibility of a lower detectability of H. pylori in patients with MALT gastric lymphoma and supporting the use of additional tests in evaluating such pathology, including polymerase chain reaction. Additionally, treatment with CD20 monoclonal antibody (rituximab) is suggested as an alternative to surgery or treatment with chemotherapy or radiotherapy in patients with truly H. pylori-negative gastric MALT lymphoma.
Mutations in BRCA1 and BRCA2 show different expressivity with respect to cancer risk, and allelic heterogeneity may be present in both genes. We collected 179 pedigrees with identified germline ...mutation (104 BRCA1 and 75 BRCA2), ascertained in six collaborating centers of the Italian Consortium for Hereditary Breast and Ovarian Cancer. Significant heterogeneity was detected for several variables, and a logistic regression model including age of diagnosis in the proband, presence of ovarian cancer in the family, presence of prostate or pancreatic cancer in the family, and presence of male breast cancer in the family proved to be effective in predicting the presence of a mutation in a gene rather than the other. Excess of familial aggregation of both breast and ovarian cancer was observed in both genes. Proportion of ovarian cancer was increased in the 5' portion of BRCA1, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2.
Résumé. — La population gallo-romaine (IVe siècle après J.-C), extraite de 155 sépultures, est représentée par 7 enfants et 76 adultes. Ces derniers ont un crâne long, bas et de largeur moyenne. Ils ...sont, pour la plupart, mésocrânes. Leur capacité crânienne est petite, leur front est moyen et leur ptérion de forme sphéno-pariétale. La proportion de métopisme avoisine 20 %. Le pariétal est de forme trapézoïdale. Fréquemment, un méplat ou une dépression transversale occupe la région pré-lambdatique. De même, un chignon est souvent présent. Les superstructures sont modérées. La face est longue, haute et donc étroite, orthognathe. Les orbites sont moyennes. Le palais est très large. L'arcade dentaire inférieure est, presque toujours, parabolique.
THE GALLO-ROMAN POPULATION IN THE NECROPOLIS OF MAULE (FRANCE, YVELINES) : CRANIAL MORPHOLOGY Summary. — The Gallo-Roman population (VIth century A.D.), dug out of 155 burials, comprise 7 children and 76 adults. The latter have a long, low and moderate-broad skull. They are generally mesocranial. Their cranial capacity is small, the fronto-parietal transverse index is moderate and their pterion is in the spheno-parietal shape. About 20 % are metopic. The parietal has a trapezoidal shape. A flat part or a transverse depression is present frequently in the region before the lambda. Likewise, a « chignon » often exist. The reliefs are moderate. The face is long, high and consequently narrow, orthognathous. The orbital index is moderate. The palate is very broad. The inferior dental arch is often parabolic.
Menin Claudine. La population gallo-romaine de la nécropole de Maule (France, Yvelines) : morphologie crânienne. In: Bulletins et Mémoires de la Société d'anthropologie de Paris, XIII° Série. Tome 6 fascicule 1, 1979. pp. 85-110.
Human immunodeficiency virus type 1 (HIV-1)-infected patients develop a spectrum of lymphoproliferative disorders ranging from nonneoplastic lymphadenopathies to B-cell lymphomas. Although evidence ...suggests that Epstein-Barr virus (EBV) might be involved, its molecular profile and expression pattern in HIV-1-related lymphoproliferations remain to be defined. Using polymerase chain reaction-based techniques, we studied EBV types and variants in 28 lymphadenopathy lesions and in 20 lymphomas (15 large cell and 5 Burkitt-like). EBV was detected in 89% of lymphadenopathies and in 80% of lymphomas; viral DNA content was significantly higher in the latter. EBNA2 and LMP1 gene analysis indicated that half of the EBV+ lymphadenopathies were coinfected with both EBV type 1 and 2 strains and/or multiple type 1 variants. Conversely, all but one lymphoma carried a single viral variant, consistently type 1 in large cell lymphomas, and type 2 in Burkitt-like tumors. Most lymphomas, but no lymphadenopathies, showed monoclonal Ig heavy-chain rearrangement. Analysis of 5 large cell lymphomas and 9 lymphadenopathies for EBV transcripts identified LMP1 mRNA in most samples, and the EBNA2 transcript in all tumors. These findings provide evidence of a heterogeneous EBV population in lymphadenopathy lesions, strengthen the notion that lymphomas arise from clonal expansion of EBV+ cells, and suggest different roles for EBV types 1 and 2 in HIV-1-related lymphoproliferations.
HTLV-1 infections and their associated diseases are very rare in Italy, as well as in most parts of Europe, occurring prevalently in subjects related to endemic areas. The HTLV-1-associated ...leukemia/lymphoma, ATLL, is a very aggressive T-cell non-Hodgkin's lymphoma which can be difficult to recognize in non-endemic areas. Here we describe the case of an elderly Italian woman, with no apparent risk factors, affected by a rapidly fatal ATLL who presented with an abdominal lymphomatous mass and circulating leukemic cells. The simultaneous presence of different T-cell clones in the tumor mass and in the blood was demonstrated by T-cell receptor gene rearrangement analysis and HTLV-1 integration pattern studies. After surgery, all the T-cell clones were present in the blood, indicating that tumor cells had spread from the mass. Phylogenetic analysis, using the complete LTR sequence, showed that the patient's HTLV-1 isolate belongs to the cosmopolitan subtype A.
Background/Aims: Post-transplant lymphoproliferative disease, a potential complication of solid organ transplantation, occurs in about 3% of orthotopic liver transplant recipients. We report the ...genetic and virological characterization of two cases of post-transplant lymphoproliferative disease that occurred early (4 and 6 months) after orthotopic liver transplant as large-cell non-Hodgkin's lymphomas located at the hepatic hilum.
Methods: Lymphomatous tissues were analyzed for clonality and presence of Epstein-Barr virus (EBV) sequences by Southern blot, polymerase chain reaction, and
in situ hybridization techniques.
Results: The tumors in both cases were sustained by a clonal proliferation of B lymphocytes containing type A EBV DNA. Moreover,
in situ hybridization with a digoxigenin-labeled EBV-specific probe evidenced a strong nuclear signal in most of the neoplastic cells. DNA microsatellite analysis at three different loci detected alleles of donor origin in both tumor samples, suggesting that the neoplastic B cells were of donor origin.
Conclusions: EBV-infected donor B lymphocytes might be responsible for intragraft post-transplant lymphoproliferative disease in orthotopic liver transplant recipients. As 20 to 30% of post-transplant lymphomas involve the graft itself, donor-derived post-transplant lymphoproliferative disease might be more frequent than present appreciated. Prospective studies are needed to assess its real incidence and identify possible risk factors.
Mechanisms of tumor development were studied in SCID mice injected with human lymphoid cells from Epstein-Barr virus-positive (EBV+) donors. About 80% of peripheral blood mononuclear cell ...(PBMC)-injected animals developed a lymphoproliferative disease associated with oligoclonal EBV+ tumors of human B cell origin. No change in tumor development rate occurred when monocyte-depleted PBMC were inoculated. No tumors developed when purified B cells were injected. B cell lymphoproliferative disease was also prevented in most cases when PBMC-injected animals were treated with agents that prevent T cell activation, such as cyclosporin A. Both CD4+ and CD8+ T cell subpopulations were able to provide putative factor(s) necessary for EBV+ B cell expansion and progression to tumors. These data suggest that the transfer alone of potentially tumorigenic human cells into an immunodeficient environment, such as the SCID mouse, might not be sufficient for cell progression to tumor, and raise the possibility that chronic activation events could play a major role in the pathogenesis of some EBV+ lymphomas in the immunocompromised host.
The fragile histidine triad (FHIT) gene is localized on chromosome 3p14 and spans the common fragile site FRA3B. Even though its role in carcinogenesis is still unclear, this gene is frequently ...inactivated by carcinogen-induced intragenic deletions in many types of cancers, and FHIT abnormal transcripts are found in many primary tumors and tumor-derived cell lines. We evaluated FHIT gene involvement in 39 esophageal carcinomas (18 adenocarcinomas AC¿, 21 squamous cell carcinomas SCC) by both reverse transcriptase-polymerase chain reaction (RT-PCR) amplification and loss of heterozygosity analysis (LOH). Thirty cases (77%) displayed either aberrant FHIT transcripts (12 cases) and/or LOH (24 cases); among these, only 6 samples displayed both aberrant transcripts and LOH, thus suggesting that the two events are probably independent. Moreover, LOH was significantly higher in SCC (80%) than in AC (44%), and because most of our patients are heavy smokers and/or alcohol consumers, these results suggest that the FHIT gene might be a common target for carcinogens also in the esophagus.
We analyzed 16 Italian breast and breast/ovarian cancer families for BRCA1 germline mutations using a combination of the protein truncation test (PTT) and the single-strand conformation polymorphism ...techniques. Genomic DNA from the affected proband of each family was analyzed by applying the PTT to exon 11 of the BRCA1 gene. This initial screening led to the identification of truncated protein products in three families that were shown to carry three different frameshift mutations. In the families that scored negative in the PTT, single-strand conformation polymorphism analysis of the entire coding sequence of the gene revealed four additional mutations consisting of one nonsense, one in-frame deletion, one frameshift, and one missense mutation (in a family with a case of male breast cancer). The four frameshift mutations resulted in a decreased expression of the mutant allele, whereas no loss of transcript was associated with the other three mutations. All mutant alleles were shown to cosegregate with the cancer phenotype within the families, and none have previously been reported.