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Gmidene A.,University of Sousse | Gmidene A.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | Avet-Loiseau H.,French Institute of Health and Medical Research | Avet-Loiseau H.,University of Nantes | And 6 more authors.
Cytogenetic and Genome Research | Year: 2012

Cytogenetic studies in multiple myeloma (MM) are hampered by the hypo-proliferative nature of plasma cells. In order to circumvent this problem, we have used a combination of immunolabeling of cytoplasmic Ig light chains (λ or κ) and FISH (cIg-FISH), which allowed a comprehensive detection of the most common and/or recurrent molecular cytogenetic aberrations on fixed bone marrow cells of 70 Tunisian patients. Translocations involving the chromosome 14q32 region were observed in 32 cases (45.7%), including 18 cases with a t(11;14), 8 cases with a t(4;14), and 2 cases with a t(14;16). Deletions of the 13q14 region (D13S319/RB1) were detected in 18.6%, and deletions of the 17p13 region (TP53) in 5.7% of the cases, respectively. Of all patients with a D13S319/RB1 deletion, 61.5% also carried a 14q32 translocation, whereas TP53 deletions were associated with a t(11;14) in 2 cases (50%) and a D13S319 deletion in 1 case (25%). Our results suggest that there is a correlation between the presence of 14q32 translocations and chromosome 13q14 deletions in MM patients and that cIg-FISH is more sensitive as compared to conventional karyotyping in detecting molecular cytogenetic abnormalities in this disease. Copyright © 2011 S. Karger AG, Basel.


Cabry-Goubet R.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | Brasseur F.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | Sanguinet P.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | Demailly P.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | And 3 more authors.
Gynecologie Obstetrique Fertilite | Year: 2010

Objectives: The Professional Practice Evaluation (PPE) is at the heart of quality management in procreation centers. Hereby, we report 3 years of EPP in Cytogenetics and Reproduction laboratory in Amiens University Hospital. Patients and methods: This PPE is based upon prospective analysis of in vitro fertilization techniques regarding two major parameters: clinically in improving embryo transfer and biologically by determining fecundation levels. Clinical pregnancies in "Top Quality" trial is chosen as a major indicator of our results. Results: Per transfer, there is an increase of 8% for clinical pregnancies and 31% in "Top quality" trials. Discussion and conclusion: The improvement in our results allowed us to propose, in favourable conditions, single embryo transfer. © 2010 Elsevier Masson SAS. All rights reserved.


Landolsi S.,Service de Medecine Carcinologique | Gharbi O.,Service de Medecine Carcinologique | Zrig M.,Service dOrthopedie | Gribaa M.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | And 5 more authors.
Annales de Biologie Clinique | Year: 2010

Li Fraumeni Syndrome (LFS) is a rare autosomal disorder characterized by a familial clustering of tumors. Analysis of several series of LFS families have shown that 70% of such families are attributable to germ-line mutations in TP53. We report the case of a patient who had a first degree family antecedent of cancer in young ages. At the age of 31 years, the patient was operated of bladder papillary superficial carcinoma; five years later, he was treated for a high grade pleomorphe sarcoma of the left thigh and treated by surgery, adjuvant chemotherapy and radiotherapy. At the age of 38 years, after abdominal pain, radiologic examination reveled pancreatic tumor with bone and lymphatic metastases. The patient died one month later from pulmonary embolism. Sequencing revealed a germiline mutation of this patient that was confirmed in a member of his family in codon 1009C>T, protein Arg337Cys, exon 10 of TP53 gene this mutation was revealed in his nephew (died at the age of 20 from bone sarcoma).


Gmidene A.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | Sennana H.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | Frikha R.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | Elloumi M.,Service dHematologie | And 2 more authors.
Annales de Biologie Clinique | Year: 2012

Variant forms of the classic translocation t(8;21) are uncommon and account approximately 3% of all t(8;21)(q22;q22) in acute myeloid leukemia (AML) patients. These forms involve chromosomes 8, 21, and other chromosomes. Here we report a Tunisian patient with a complex rearrangement t(21;8;1)(q22;q22;q32) revealed by conventional chromosomal study at diagnosis. Fluorescence in situ hybridization study revealed the presence of the AML1-ETO chimeric gene on the derivative chromosome 8. To the best of our knowledge, this is the second case of t(21;8;1) of AML-M2 reported in the literature with the involvement of the same breakpoint at 1q32. This illustrates that this complex translocation is rarely encountered in AML and reinforces the fact that this region may harbour a critical gene candidate that may play an important role in the pathogenesis of AML. More cases are needed to elucidate its clinical features and prognosis.


Gmidene A.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | Frikha R.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | Sennana H.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | Elghezal H.,Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction | And 2 more authors.
Medical Oncology | Year: 2011

The complex variants of t(8;21) involving chromosomes 8 and 21 as well as another chromosome account for approximately 3% of acute myeloid leukemia patients. We report here a 30-year-old male patient with AML-M2. Fluorescence in situ hybridization analysis using dual-color fluorescence ETO and AML1 probes located at 8q22 and 21q22 respectively showed an AML1/ETO fusion signal on the derivative chromosome 8. Whole chromosome painting probes were used for chromosome 1, 8 and 21 and revealed a three-way translocation (1;21;8)(p34 ~ p35;q22;q22). Involvement of chromosome region 1p34 has never been reported earlier, although region 1p35 as a variant in AML with t(8;21) has been reported with an AML1/ETO fusion signal on the 1p35 rather than der(8). In conclusion, combining conventional karyotype, FISH or RT-PCR analyses are a rational strategy for the identification of the complex variants of t(8;21) translocation which could be critical events responsible for leukemogenesis. © 2010 Springer Science+Business Media, LLC.


PubMed | Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction
Type: | Journal: Advances in hematology | Year: 2010

In this study, Forty-one out of fifty-seven Tunisian children with B-lineage acute lymphoblastic leukemia (B-ALL), and without cytogenetically detectable recurrent abnormalities at the time of the diagnosis, were evaluated by fluorescence in situ hybridization (FISH) for the t(12;21). This translocation leads ETV6-RUNX1 (previously TEL-AML1) fusion gene. 16 patients (28%) had ETV6-RUNX1 rearrangement. In addition to this rearrangement, two cases showed a loss of the normal ETV6 allele, and three others showed an extra signal of the RUNX1 gene. Seven patients without ETV6-RUNX1 rearrangement showed extra signals of the RUNX1 gene. One out of the 7 patients was also associated with a t(3;12) identified by FISH. This is the first Tunisian study in which we report the incidence of t(12;21) among childhood B-lineage ALL and in which we have found multiple copies of RUNX1. Finally, our findings confirm that additional or secondary genetic changes are commonly encountered in pediatric B-lineage ALL with ETV6-RUNX1 gene fusion which is envisaged to play a pivotal role in disease progression.


PubMed | Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction
Type: | Journal: Medical oncology (Northwood, London, England) | Year: 2011

The complex variants of t(8;21) involving chromosomes 8 and 21 as well as another chromosome account for approximately 3% of acute myeloid leukemia patients. We report here a 30-year-old male patient with AML-M2. Fluorescence in situ hybridization analysis using dual-color fluorescence ETO and AML1 probes located at 8q22 and 21q22 respectively showed an AML1/ETO fusion signal on the derivative chromosome 8. Whole chromosome painting probes were used for chromosome 1, 8 and 21 and revealed a three-way translocation (1;21;8)(p34 ~ p35;q22;q22). Involvement of chromosome region 1p34 has never been reported earlier, although region 1p35 as a variant in AML with t(8;21) has been reported with an AML1/ETO fusion signal on the 1p35 rather than der(8). In conclusion, combining conventional karyotype, FISH or RT-PCR analyses are a rational strategy for the identification of the complex variants of t(8;21) translocation which could be critical events responsible for leukemogenesis.


PubMed | Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction
Type: Journal Article | Journal: Gynecologie, obstetrique & fertilite | Year: 2013

To identify IVFICSI pregnancy predictive factors during Top Quality attempts in case of double embryo transfer.Three years retrospective study (2007, 2008 and 2009) on parameters and results obtained during IVFICSI defined as Top Quality attempts: first or second attempts on less than 35years old women (age inferior or equal to) with one or two Top Quality embryo transfer.In case of double embryo transfer, pregnancy predictive factors are (OR [IC 95%], P): average endometrial thickness on start (4.6 [2.9-5.5], P<0.01), women smoking (4.2 [3.5-4.9], P<0.01), average stimulation duration (3.4 [2.7-3.9], P<0.01), average men age (2.2 [1.7-2.5], P<0.05), gonadotrophins total dose (2.1 [1.1-3.2], P<0.05) and first ranks attempts (1.6 [1.2-2.5], P<0.05).Age patient, rank attempts and quality embryo are criteria, which used to guide to a single embryo transfer. Our results incite us to consider other parameters, in particular men age and women smoking status.


PubMed | Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction
Type: Evaluation Studies | Journal: Gynecologie, obstetrique & fertilite | Year: 2010

The Professional Practice Evaluation (PPE) is at the heart of quality management in procreation centers. Hereby, we report 3 years of EPP in Cytogenetics and Reproduction laboratory in Amiens University Hospital.This PPE is based upon prospective analysis of in vitro fertilization techniques regarding two major parameters: clinically in improving embryo transfer and biologically by determining fecundation levels. Clinical pregnancies in Top Quality trial is chosen as a major indicator of our results.Per transfer, there is an increase of 8% for clinical pregnancies and 31% in Top quality trials.The improvement in our results allowed us to propose, in favourable conditions, single embryo transfer.


PubMed | Laboratoire Of Cytogenetique Et Of Biologie Of La Reproduction
Type: Case Reports | Journal: Annales de biologie clinique | Year: 2012

Variant forms of the classic translocation t(8;21) are uncommon and account approximately 3% of all t(8;21)(q22;q22) in acute myeloid leukemia (AML) patients. These forms involve chromosomes 8, 21, and other chromosomes. Here we report a Tunisian patient with a complex rearrangement t(21;8;1)(q22;q22;q32) revealed by conventional chromosomal study at diagnosis. Fluorescence in situ hybridization study revealed the presence of the AML1-ETO chimeric gene on the derivative chromosome 8. To the best of our knowledge, this is the second case of t(21;8;1) of AML-M2 reported in the literature with the involvement of the same breakpoint at 1q32. This illustrates that this complex translocation is rarely encountered in AML and reinforces the fact that this region may harbour a critical gene candidate that may play an important role in the pathogenesis of AML. More cases are needed to elucidate its clinical features and prognosis.

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