Élaboration d’un guide d’information SOR SAVOIR PATIENT à l’usage des personnes malades et de leurs proches sur la vie intime et sexuelle pendant et après un cancer : l’étape d’état des lieux

Since 1998, the French National Federation of Comprehensive Cancer Centres (FNCLCC) has led an information program dedicated to patients and their relatives: the SOR SAVOIR PATIENT (SSP) program. The program is provided by the FNCLCC, the twenty French regional cancer centres (CLCC), the National League Against Cancer (LCC), the French National Cancer Institute (INCa), the French Hospital Federation (FHF), the National Oncology Federation of Regional and University Hospitals (FNCCHRU), the French Oncology Federation of General Hospitals (FFCHG), the National Private Hospital Union for Oncology (UNHPC), the International Union Against Cancer (UICC) and a large number of learned societies. The methodology of the program adheres to the quality criteria established for publishing documents containing information for patients. Issues related to the sexual health of cancer patients and their partners too often remain underestimated and even completely neglected by health professionals, although healthcare providers are increasingly interested in this area and patients frequently confront them with questions about this aspect of their lives. The development of an SOR SAVOIR PATIENT informational guide on the various issues related to sexuality during and after cancer treatment constitutes a first step in addressing the needs of cancer patients and others concerned. This article describes the first stage in the development of a specific SOR SAVOIR PATIENT guide that focuses on the general availability of informational material in French on the sexual health of patients and their partners during and after cancer treatment.     

A mutation analysis of the<Emphasis Type="Italic"> BRCA1</Emphasis> gene in 140 families from southeast France with a history of breast and/or ovarian cancer

A mutation analysis of the BRCA1 gene in 140 French families with a history of breast cancer or breast-ovarian cancer revealed several deleterious germline mutations, as well as rare sequence variants. The 19 genetics variants were of 15 different types, two of which had not been reported in the Breast cancer Information Core (BIC) database. Five distinct truncating mutations, leading to putative nonfunctional proteins, were identified out of 140 index cases (3.5%). One novel nonsense mutation, C4491T, was reported, whereas the four other BRCA1 deleterious mutations identified consisted of frequent frameshifts in the nucleotide sequence. One splice variant (331+3A>G) and thirteen missense variations leading to amino acid substitutions of unknown structural and functional importance were identified. Among these, two BRCA1 missense mutations, A120G and T243C could be considered as suspected deleterious. The first missense mutation modified the initiation codon (M1V) and the second (C39R) may have consequences on the structure and functioning of the BRCA1 protein by modifying cysteine ligands from the RING finger domain. As expected BRCA1 gene alteration, including missense mutations of unknown biological significance, were more frequent in families with a history of breast-ovarian-cancer (32%) than in breast-cancer-only families (12%).     

Molecular cloning and characterization of a novel ABC transporter gene in the human pathogen Trichophyton rubrum.

A gene encoding an ABC transporter in the dermatophyte Trichophyton rubrum, TruMDR1, was cloned by PCR using degenerate primers. The open reading frame of TruMDR1 is 4838 bp long and the deduced amino acid sequence shows high homology with ABC transporters involved in drug efflux of other fungi. The effect of chemicals on the expression level of mRNAs of this gene was analysed by Northern blot. An increase in expression level was observed when the fungus was exposed to ethidium bromide, ketoconazole, cycloheximide, fluconazole, griseofulvin, imazalil and itraconazole, suggesting the participation of this gene in drug efflux in this dermatophyte. The identification of a gene potentially involved in cellular detoxification in a pathogenic fungus is the first step towards knowing molecular events related to antifungal resistance.     

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects

Background

Hemihyperplasia (hemihypertrophy) is defined as asymmetric body overgrowth of one or more body parts. Hemihyperplasia can be isolated or be part of well-defined syndromes such as in the case of Beckwith-Wiedemann syndrome (BWS). Isolated hemihyperplasia is usually sporadic, but a number of familial occurrences have been described.

Case presentation

We describe a Tunisian family in which three maternal cousins and their maternal grandfather present with isolated hemihyperplasia.

Conclusions

The etiology of isolated hemihyperplasia is unknown although in BWS, genomic imprinting has been shown to play a role in the asymmetric overgrowth. Given the similarity between these two conditions, it is possible that both may share a common pathogenesis. We also discuss the possible genetic mechanisms leading to the production of hemihyperplasia in this family.     

Prominent intrasinusoidal infiltration of the bone marrow by mantle cell lymphoma

Intrasinusoidal infiltration of bone marrow (BM) may accompany several malignant lymphoproliferative disorders. In small B-cell lymphomas, this pattern is considered specific for splenic marginal zone lymphoma (SMZL) when exclusive or prominent, although it may occur in other subtypes of non-Hodgkin's lymphomas (NHLs) as a minor feature. Here we report 2 cases of mantle cell lymphoma (MCL) with a prominent intrasinusoidal BM infiltration pattern. Both patients presented with massive splenomegaly and peripheral blood involvement characterized by markedly atypical lymphocytes, but no lymphadenopathy. The cytological features and the phenotype of the lymphoma cells were diagnostic of MCL. The malignant B cells showed coexpression of B-cell markers (CD20+ and CD79a+), CD5 antigen, and cyclin D1 by immunohistochemistry. We discuss the specificity of an intrasinusoidal growth pattern in the bone marrow, emphasizing the importance of using a broader immunohistochemical panel in the differential diagnosis of intrasinusoidal BM infiltration by NHL.     

Langerhans' cells are depleted in chronic graft versus host disease.

AIMS: To measure Langerhans' cells in skin of patients treated by bone marrow transplantation who developed chronic graft versus host disease (GvHD); to determine whether the reduction in Langerhans' cells resulted directly from the GvHD or from other factors, such as the immunosuppressive regimens used in bone marrow transplant patients. PATIENTS AND METHODS: Lesional and nonlesional skin specimens from nine patients with lichen planus-like lesions and three patients with sclerodermoid lesions were studied. Control skin specimens were taken from three patients undergoing breast reduction surgery. The number of Langerhans' cells/mm2 and the area of Langerhans' cells as a percentage of total epidermis were measured by counting cells labelled with antihuman CD1a. RESULTS: A significant reduction in Langerhans' cell area and number were found in specimens with lesions (area 3.5%; number 507/mm2) compared with specimens without lesions (8.42%; 2375/mm2). In contrast, Langerhans' cell area and number in skin without lesions were similar to controls (10.26%; 2968/mm2). CONCLUSIONS: Langerhans' cells were significantly reduced in skin with lesions of chronic GvHD but not in skin without lesions from the same patient, suggesting that the reduction is a direct consequence of GvHD and not linked to immunosuppressive drugs or late effects of conditioning regimens. In long term bone marrow transplant recipients, Langerhans' cells are derived mainly from the donor cells; therefore, this result suggests the occurrence of autoreactive phenomenon in chronic GvHD.