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1.
Neurochirurgie ; 68(4): 379-385, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35123987

ABSTRACT

BACKGROUND: Some authors used minimally invasive surgery (MIS) in the treatment of spinal cord tumor, but these studies had a small sample sizes and mixed extra- and intra-medullary tumors, resulting in confounding biases. The objectives of the present study were to evaluate the effectiveness and safety of MIS for spinal meningioma resection in comparison with open surgery (OS). METHODS: Consecutive patients with spinal meningioma who received either MIS or OS were included. Data for extent of resection, functional outcome, postoperative morbidity and recurrence were collected. RESULTS: A total of 48 patients (with 51 spinal meningiomas) were included. Eighteen underwent MIS and 30 OS. Meningioma volume and location did not differ significantly between groups: tumors were predominantly thoracic (n=39, 76.5%) and voluminous (occupying more than 50% of the spinal canal: n=43, 84.3%). In the MIS group, patients were older (mean age: 66.5 vs. 56.4years, P=0.02) and more fragile (mean ASA score: 2.0 vs. 1.6, P=0.06). In the MIS group, the surgical procedure was shorter (mean duration: 2.07 vs. 2.56h, P=0.04), blood loss lower (mean: 252 vs. 456mL, P=0.02), and hospital stay shorter (mean: 6.6 vs. 8.1days). Surgery improved the modified McCormick scale (P<0.0001) irrespective of the surgical technique. MIS led to no significant differences in extent of resection or postoperative morbidity. Mean follow-up was 46.6 months. At last follow-up, 91.7% (n=44) of patients were free of progression; all cases of tumor progression (n=4) occurred in the OS group. CONCLUSIONS: MIS outperformed OS in the management of intradural spinal meningioma, irrespective of location and volume. MIS appears to be particularly suitable for elderly and fragile patients.


Subject(s)
Meningeal Neoplasms , Meningioma , Aged , Humans , Meningeal Neoplasms/surgery , Meningioma/surgery , Minimally Invasive Surgical Procedures/methods , Retrospective Studies , Treatment Outcome
2.
Neurochirurgie ; 66(4): 195-202, 2020 Aug.
Article in English | MEDLINE | ID: mdl-32645393

ABSTRACT

INTRODUCTION: The management of antithrombotic therapy (AT) after surgery for chronic subdural hematoma (cSDH) requires taking account of the balance of risk between hemorrhage recurrence (HR) and the prophylactic thromboembolic effect (TE). The goal of the present study was to evaluate the prevalence of vascular events (VE: TE and/or HR) in the first 3 postoperative months after cSDH evacuation in patients previously treated by AT. The impact of AT resumption was also evaluated. PATIENTS AND METHODS: This observational prospective multicenter collaborative study (14 French neurosurgery centers) included patients with cSDH treated by AT and operated on between May 2017 and March 2018. Data collection used an e-CRF, and was principally based on an admission questionnaire and outcome/progression at 3 months. RESULTS: In this cohort of 211 patients, VE occurred in 58 patients (27.5%): HR in 47 (22.3%), TE in 17 (8%), with mixed event in 6 cases (2%). Median overall time to onset of complications 26 days±31.5, and specifically 43.5 days±29.25 for HR. Non-resumption of AT significantly increased the relative risk of VE [OR: 4.14; 95% CI: 2.08 - 8.56; P <0.001] and especially of TE [OR: 7.5; 95% CI: 1.2 - 42; P<0.001]. The relative risk of HR was significantly increased when AT was resumed at less than 30 days (P=0.015). CONCLUSION: The occurrence of VE in patients operated on for cSDH and previously treated by AT was statistically significant (27.5%). HR was the most common event (22.3%), whereas TE accounted for only the 8%, although with shorter time to onset. In order to prevent TE risk, AT should be restarted after 30 days, as HR risk is greatly decreased beyond this time.


Subject(s)
Fibrinolytic Agents/therapeutic use , Hematoma, Subdural, Chronic/surgery , Aged , Aged, 80 and over , Drainage , Female , France , Hematoma, Subdural, Chronic/prevention & control , Humans , Longitudinal Studies , Male , Neurosurgical Procedures , Postoperative Complications/epidemiology , Prevalence , Prospective Studies , Recurrence , Risk Factors , Surveys and Questionnaires , Treatment Outcome
4.
Rev Epidemiol Sante Publique ; 66(6): 355-362, 2018 Nov.
Article in French | MEDLINE | ID: mdl-30352720

ABSTRACT

BACKGROUND: Access to VTOP (Voluntary Termination of Pregnancy) is a national priority in France. Once legalized in 1975, several laws contributed to improve access to VTOP, such as the 2004 family planning law which enabled urban practitioners to carry out orthogenic work. This law was supplemented by the 2016 health care modernization act. On the whole, the organization for VTOP access in the Grand Est region, complies with legislation and recommendations. However, private practitioners contribute little to this activity. Since there are very few gynecologists in certain areas (whether private or hospital practitioners), general practitioners seem to be the first line actors. This study aims at describing the orthogenic work of urban, government-regulated general practitioners, in the Grand Est region of France. MATERIAL AND METHOD: Data were collected from semi-directive interviews with the set of the government-regulated general practitioners doing family planning work in the Grand Est region. RESULTS: Out of the fifteen doctors who were interviewed, twelve actually suggested family planning work to their patients, and out of those twelve, seven practiced it in reality. What comes out is that the main motivation of professionals was to improve access to VTOP. Besides, they also mentioned the importance of being able to answer a real demand from their patients as well as an interest in gynecology. Hence the professionals' practice both benefits from services provided to their patients and from a diversification of their work, even though they regret that the value of this time-consuming procedure is not recognized. This study also brings out that although these medical acts were individualized and allowed better confidentiality for the patient, the risk for complications and home birth remained an obstacle. Finally, it emerges that the whole set of recommendations was not always implemented. DISCUSSION: Urban family planning, performed by general practitioners, seems to be a major line to focus on for better timeliness and quality of care. However, some obstacles have been identified such as its specificity, its time-consuming aspect, its lack of status, as well as the difficulty to comply with recommendations. CONCLUSION: The development of this practice is necessary to maintain an appropriate response to VTOP but actions to remove certain obstacles have to be carried out.


Subject(s)
Abortifacient Agents/therapeutic use , Abortion, Induced/statistics & numerical data , General Practitioners/statistics & numerical data , Practice Patterns, Physicians'/statistics & numerical data , Abortion, Induced/methods , Adolescent , Adult , Female , France/epidemiology , General Practice/methods , General Practice/statistics & numerical data , Health Services Accessibility/standards , Health Services Accessibility/statistics & numerical data , Humans , Male , Motivation , Pregnancy , Urban Population/statistics & numerical data , Young Adult
5.
Neurochirurgie ; 64(3): 155-160, 2018 Jun.
Article in English | MEDLINE | ID: mdl-29754739

ABSTRACT

BACKGROUND: High-field intraoperative MRI (IoMRI) is a useful tool to improve the extent of glioma resection (EOR). OBJECTIVE: To compare the interest of 1.5T IoMRI in glioma surgery between enhancing and non-enhancing tumors, based on volumetric analysis. METHODS: A prospective single-center study included consecutive adult patients undergoing glioma surgery with IoMRI. Volumetric evaluation was based on FLAIR hypersignal after gadolinium injection in non-enhancing tumors and T1 hypersignal after gadolinium injection in enhancing tumors. Endpoints comprised: residual tumor volume (RTV), EOR, workflow and clinical outcome on Karnofsky performance score (KPS). RESULTS: Fifty-three surgeries were performed from July 2014 to January 2016. Thirty-four patients underwent one IoMRI, and 19 two IoMRIs. In non-enhancing tumors, intraoperative RTV on 1st IoMRI T2/FLAIR was higher than in enhancing tumors on T1 sequences (7.25cm3 vs. 0.74cm3, respectively; P=0.008), whereas the RTV on 2nd IoMRIs and final RTV were no longer significantly different. After IoMRI, 72% of patients underwent additional resection. In non-enhancing tumors, EOR increased from 77.3% on 1st IoMRI to 97.4% on last MRI (P<0.001). Taking all tumors together, final RTV values were: median=0cm3, mean=3.9cm3. Mean final EOR was 94%. In 25% of patients, KPS was reduced during early postoperative course; at 3 and 6 months postoperatively, median KPS was 90. CONCLUSION: Intraoperative MRI guidance significantly enhanced the extent of glioma resection, especially for non- or minimally enhancing tumors, while preserving patient autonomy.


Subject(s)
Brain Neoplasms/surgery , Glioma/surgery , Magnetic Resonance Imaging , Neoplasm, Residual/surgery , Adult , Aged , Brain Neoplasms/pathology , Female , Gadolinium , Humans , Magnetic Resonance Imaging/methods , Male , Middle Aged , Prospective Studies , Treatment Outcome , Young Adult
6.
Neurochirurgie ; 63(3): 181-188, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28571707

ABSTRACT

BACKGROUND: The aim of our study was to report the usefulness of intraoperative MRI guidance in the resection of brain lesions adjacent to eloquent areas. PATIENTS AND METHODS: A single center prospective series of gliomas amenable to optimized resection with intraoperative MRI between September 2014 and December 2015. RESULTS: The study included 56 patients. The median duration of the first intraoperative MRI was 38min, interquartile range (IQR 30-46). Fourteen patients (40%) underwent a second intraoperative MRI, which had a median duration of 26min (IQR, 18-30). The median total operative time was 265min (IQR, 242-337). After the first intraoperative MRI, the median residual glioma volume of the 35 gliomas adjacent to eloquent areas was 7.04cm3 (IQR, 2.22-13.8), which did not significantly differ from the other gliomas (P=0.07). After the second intraoperative MRI, the median residual glioma volume was 3.86cm3 (IQR, 0.82-6.99), which did not significantly differ from the other patients (P=0.700). On the postoperative MRI, the median extent of the glioma resections adjacent to eloquent areas was 99.78% (IQR, 88.9-100), which was not significantly different from the rest of the population (P=0.290). At 6 months after surgery, the median Karnofsky Performance Score was 90, and 2.8% of the patients presented a permanent new neurological deficit. CONCLUSION: Our results suggest that intraoperative MRI is an effective and safe technique to improve the extent of brain lesion resections close to eloquent areas.


Subject(s)
Brain Neoplasms/surgery , Brain/surgery , Glioma/surgery , Magnetic Resonance Imaging , Monitoring, Intraoperative , Adolescent , Adult , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/physiopathology , Female , Glioma/diagnostic imaging , Glioma/physiopathology , Humans , Magnetic Resonance Imaging/methods , Male , Middle Aged , Monitoring, Intraoperative/methods , Neuronavigation/methods , Prospective Studies
7.
Scand J Trauma Resusc Emerg Med ; 24: 98, 2016 Aug 04.
Article in English | MEDLINE | ID: mdl-27488722

ABSTRACT

BACKGROUND: To date, the Pediatric Emergency Care Applied Research Network (PECARN) rule for identifying children who are at very low risk of clinically-important traumatic brain injuries after minor head trauma has not been validated prospectively in an independent population. Our goal was to evaluate the diagnostic performance of the PECARN clinical decision rule in a French pediatric population in multiple clinical settings. METHODS: We conducted a multicenter, prospective, non-interventional cohort study of patients with minor head trauma who presented to three emergency departments in France. We enrolled patients younger than 16 years of age seeking a consultation within 24 h of head trauma with Glasgow Coma Scale scores of 14-15. RESULTS: During the study period, we included 1499 children of which 421 (28 %) were under 2 years of age, and 955 (64 %) were male. A cranial computed tomography (CT) scan was performed on 76 patients (5.1 %). Of the 1499 included patients, 9 children (0.6 %) had a clinically-important traumatic brain injury, and none were classified as very low risk by the PECARN rule. In our study, the sensitivity of this clinical decision rule was 100 % (95 % CI 66.4 to 100 %), the specificity was 69.9 % (95 % CI 67.5 to 72.2 %) and the negative predictive value was 100 % (95 % CI 99.7 to 100 %). DISCUSSION: Our study confirmed the good predictive performances of the PECARN clinical decision rule for minor head trauma in children. The PECARN rule performed similarly to our study and to its internal validation study. CONCLUSIONS: We conducted an external validation study of the PECARN clinical decision rule for the detection of clinically-important traumatic brain injuries in children with minor head trauma, according to the methodological standards. The PECARN rule successfully identified all patients with clinically-important traumatic brain injuries, with a limited use of CT scans. Conducting a broad validation study with a large cohort is a prerequisite to provide sufficient statistical power before authorizing its implementation and generalization. TRIAL REGISTRATION: This study has been registered in ClinicalTrials.gov with identifier number: NCT02752711 on April 27, 2016.


Subject(s)
Craniocerebral Trauma/diagnosis , Decision Making , Emergency Service, Hospital , Emergency Treatment/methods , Child , Child, Preschool , Craniocerebral Trauma/epidemiology , Craniocerebral Trauma/therapy , Female , France/epidemiology , Glasgow Coma Scale , Humans , Incidence , Infant , Male , Prospective Studies , Tomography, X-Ray Computed
10.
Med Mal Infect ; 46(1): 39-43, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26712077

ABSTRACT

OBJECTIVE: Prosthetic joint infections (PJI) may be cured in selected patients with debridement and prosthesis retention. We aimed to identify predictors of failure to better target patients most likely to benefit from this conservative strategy. METHODS: Observational study of patients presenting with PJI initially treated at our hospital with debridement between 2008 and 2011, with>6 months of post-treatment follow-up. RESULTS: Sixty consecutive patients presenting with PJI (hip, n=34; knee, n=26) fulfilled the inclusion criteria. Failures (n=20, 33%), predefined as persistence of PJI signs or relapses, were managed with additional surgery (n=17) and/or lifelong suppressive antibiotic treatment (n=6). Variables independently associated with failure: previous surgery on the prosthetic joint (OR: 6.3 [1.8-22.3]), Staphylococcus aureus PJI (OR: 9.4 [1.6-53.9]), post-debridement antibiotic treatment for <3 months (OR: 20.0 [2.2-200]). CONCLUSION: Previous surgery, S. aureus PJI, and short duration antibiotic treatment are associated with an increased risk of failure after debridement.


Subject(s)
Arthritis, Infectious/surgery , Debridement , Prosthesis-Related Infections/surgery , Aged , Aged, 80 and over , Anti-Bacterial Agents/therapeutic use , Arthritis, Infectious/drug therapy , Combined Modality Therapy , Comorbidity , Female , Follow-Up Studies , Hip Prosthesis/adverse effects , Humans , Knee Prosthesis/adverse effects , Male , Prosthesis-Related Infections/drug therapy , Reoperation , Staphylococcal Infections/drug therapy , Staphylococcal Infections/etiology , Staphylococcal Infections/surgery , Treatment Failure
11.
Child Abuse Negl ; 41: 30-9, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25169149

ABSTRACT

This article constitutes a 20-year update to a previous publication (Pelton, 1994), which showed that there is overwhelming evidence that poverty and low income are strongly related to child abuse and neglect. Subsequent evidence shows that the relationship continues to be strong. In addition, there is further evidence since the 1994 publication that this relation is not substantially due to class bias. Yet it is suggested that class bias does exist within the system. There is also further evidence that decreases in child maltreatment follow increases in material supports, and that job loss bears a complex relationship to child maltreatment. Findings pertaining to racial bias within the child welfare system continue to be mixed, but leave no doubt that racial disproportionalities within the system are overwhelmingly related to racial disproportionalities in the poverty population. There is continuing evidence that children placed in foster care are predominantly from impoverished families, and that changes in the level of material supports are related to risk of placement. It is suggested that the fact that there are nearly one million children in out-of-home placement (foster care and child-welfare involved adoption, combined) is indicative of the continuing dysfunction of the child welfare system, and that the differential response paradigm has not altered this dysfunction. A proposal for a fundamental restructuring of the child welfare system is recommended and restated here. Prospects for such change are briefly discussed. Also, to reduce poverty, a previously proposed universal social dividend and taxation system is briefly discussed and recommended.


Subject(s)
Child Abuse/prevention & control , Poverty/economics , Adoption , Child , Child Abuse/economics , Child Abuse/statistics & numerical data , Child Protective Services/organization & administration , Foster Home Care , Government Agencies/organization & administration , Humans , Incidence , Income , Poverty/ethnology , Poverty/prevention & control , Racial Groups/ethnology , Social Class , Social Support , Unemployment , United States/epidemiology
12.
Soc Work ; 59(4): 351-3, 2014 Oct.
Article in English | MEDLINE | ID: mdl-25365837
13.
Eur J Clin Microbiol Infect Dis ; 32(2): 189-94, 2013 Feb.
Article in English | MEDLINE | ID: mdl-22930407

ABSTRACT

The purpose of this investigation was to characterize the management and prognosis of severe Pneumocystis jirovecii pneumonia (PJP) in human immunodeficiency virus (HIV)-negative patients. An observational cohort study of HIV-negative adults with PJP documented by bronchoalveolar lavage (BAL) through Gomori-Grocott staining or immunofluorescence, admitted to one intensive care unit (ICU) for acute respiratory failure, was undertaken. From 1990 to 2010, 70 patients (24 females, 46 males) were included, with a mean age of 58.6 ± 18.3 years. The mean Simplified Acute Physiology Score (SAPS)-II was 36.9 ± 20.4. Underlying conditions included hematologic malignancies (n = 21), vasculitis (n = 13), and solid tumors (n = 13). Most patients were receiving systemic corticosteroids (n = 63) and cytotoxic drugs (n = 51). Not a single patient received trimethoprim-sulfamethoxazole as PJP prophylaxis. Endotracheal intubation (ETI) was required in 42 patients (60.0 %), including 38 with acute respiratory distress syndrome (ARDS). In-ICU mortality was 52.9 % overall, reaching 80.9 % and 86.8 %, respectively, for patients who required ETI and for patients with ARDS. In the univariate analysis, in-ICU mortality was associated with SAPS-II (p = 0.0131), ARDS (p < 0.0001), shock (p < 0.0001), and herpes simplex virus (HSV) or cytomegalovirus (CMV) on BAL (p = 0.0031). In the multivariate analysis, only ARDS was associated with in-ICU mortality (odds ratio [OR] 23.4 [4.5-121.9], p < 0.0001). PJP in non-HIV patients remains a serious disease with high in-hospital mortality. Pulmonary co-infection with HSV or CMV may contribute to fatal outcome.


Subject(s)
Coinfection/mortality , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/mortality , Herpes Simplex/complications , Herpes Simplex/mortality , Pneumonia, Pneumocystis/complications , Pneumonia, Pneumocystis/mortality , Aged , Bronchoalveolar Lavage Fluid/virology , Cohort Studies , Cytomegalovirus/isolation & purification , Female , Humans , Male , Middle Aged , Retrospective Studies , Simplexvirus/isolation & purification
14.
Neurochirurgie ; 57(4-6): 180-92, 2011.
Article in French | MEDLINE | ID: mdl-22019219

ABSTRACT

Lateral ventricular neoplasms are rare, and account for 50% of all intraventricular tumors in adults and 25% in children. Although these neoplasms are easily detected with computed tomography (CT) and magnetic resonance imaging (MRI), both techniques are relatively unspecific in identifying the type of tumor. However, few imaging patterns are specific for a particular pathological process and useful conclusions can be made from the morphological appearance of the lesion, its location and enhancement pattern. The aim of this article was to review and illustrate the CT and MRI findings of a wide spectrum of tumors of the lateral ventricle. We reviewed choroid plexus tumors, meningioma, subependymal giant cell astrocytoma, central neurocytoma, and less frequent lesion such as lymphoma and metastases.


Subject(s)
Cerebral Ventricle Neoplasms/diagnostic imaging , Cerebral Ventricle Neoplasms/pathology , Lateral Ventricles/diagnostic imaging , Lateral Ventricles/pathology , Astrocytoma/diagnostic imaging , Astrocytoma/pathology , Choroid Plexus Neoplasms/diagnostic imaging , Choroid Plexus Neoplasms/pathology , Choroid Plexus Neoplasms/secondary , Diffusion Magnetic Resonance Imaging , Ependymoma/diagnostic imaging , Ependymoma/pathology , Giant Cell Tumors/diagnostic imaging , Giant Cell Tumors/pathology , Glioma, Subependymal/diagnostic imaging , Glioma, Subependymal/pathology , Humans , Image Processing, Computer-Assisted , Lymphoma/diagnostic imaging , Lymphoma/pathology , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy , Meningioma/diagnostic imaging , Meningioma/pathology , Neurocytoma/diagnostic imaging , Neurocytoma/pathology , Preoperative Care , Tomography, X-Ray Computed
16.
Eur J Clin Microbiol Infect Dis ; 27(11): 1137-40, 2008 Nov.
Article in English | MEDLINE | ID: mdl-18548294

ABSTRACT

A good knowledge of morbidity profiles among ill-returned travelers is necessary in order to guide their management. We reviewed the medical charts of 230 patients hospitalized in one infectious diseases department in France for presumed travel-related illnesses. The male-to-female ratio was 1.6 and the median age was 33 years (interquartile range [IQR], 25-50). Most patients (70.9%) were returning from sub-Saharan Africa. The median duration of travel was 28 days (IQR, 15-60) and the median time from return of travel to hospitalization was 13 days (IQR, 7-21). Malaria was the most frequent diagnosis (49.1%), which was especially encountered in patients returning from sub-Saharan Africa (95.6%), without adequate chemoprophylaxis (78.2%). Imported diseases at risk of secondary transmission were also diagnosed, including pulmonary tuberculosis (n = 8), viral hepatitis (n = 8), typhoid fever (n = 6), human immunodeficiency virus (HIV) (six new diagnosis), non-typhoid salmonellosis (n = 5), severe acute respiratory syndrome, and Crimean-Congo hemorrhagic fever. This study underlines the need to maintain tropical expertise for infectious diseases physicians, even in Europe.


Subject(s)
Communicable Diseases/etiology , Travel , Adult , Africa South of the Sahara , Communicable Diseases/epidemiology , Female , France/epidemiology , HIV Infections/diagnosis , HIV Infections/epidemiology , Hemorrhagic Fever, Crimean/diagnosis , Hemorrhagic Fever, Crimean/epidemiology , Hepatitis, Viral, Human/diagnosis , Hepatitis, Viral, Human/epidemiology , Hospitalization , Humans , Incidence , Malaria/diagnosis , Malaria/epidemiology , Male , Middle Aged , Retrospective Studies , Salmonella Infections/diagnosis , Salmonella Infections/epidemiology , Severe Acute Respiratory Syndrome/diagnosis , Severe Acute Respiratory Syndrome/epidemiology , Tuberculosis, Pulmonary/diagnosis , Tuberculosis, Pulmonary/epidemiology , Typhoid Fever/diagnosis , Typhoid Fever/epidemiology
17.
Leukemia ; 20(6): 965-70, 2006 Jun.
Article in English | MEDLINE | ID: mdl-16598313

ABSTRACT

In core binding factors (CBF) acute myeloid leukemia (AML), the disruption of CBFalpha/beta genes impairs normal hematopoietic differentiation and is supposed to cooperate with additional mutations promoting proliferation. The incidence and the prognosis of receptor tyrosine kinase (RTK) c-Kit and FLT3 mutations and Ras mutations were evaluated in 103 pediatric and adult patients with CBF-AML. c-Kit mutations were present in 17% patients. c-Kit exon 8 mutations were more frequent in inv(16) than in t(8;21) subset (20 versus 6%). Only one patient had FLT3-ITD but FLT3-D835 was as frequent as reported in AML population (7%). Ras mutations were significantly more frequent in inv(16) than in t(8;21) subset (36 versus 8%, P=0.001). RTK mutations were associated with a higher white blood cell count (WBC) (36 versus 21 G/L, P=0.05). FLT3 mutations were significantly associated with a shorter EFS and survival (P<0.0001 and P=0.0002) owing to an excess of early events. c-Kit mutations were associated with a shorter EFS and RFS (P=0.002 and P=0.003) in t(8;21) but not inv(16) patients. As previously observed, Ras mutations did not affect prognosis. Screening for RTK mutations may help to identify patients with a more adverse outcome and thus susceptible to benefit from intensified protocols or RTK inhibitors.


Subject(s)
Core Binding Factors/genetics , Leukemia, Myeloid/genetics , Proto-Oncogene Proteins c-kit/genetics , Proto-Oncogene Proteins p21(ras)/genetics , fms-Like Tyrosine Kinase 3/genetics , Acute Disease , Adolescent , Adult , Aged , Child , Child, Preschool , Exons , Female , Humans , Infant , Leukemia, Myeloid/diagnosis , Male , Middle Aged , Mutation , Prognosis , Retrospective Studies , Survival Rate
19.
Leukemia ; 19(3): 329-34, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15674366

ABSTRACT

The CCAAT/enhancer-binding protein-alpha (CEBPA) is a transcription factor strongly implicated in myelopoiesis through control of proliferation and differentiation of myeloid progenitors. Recently, several works have reported the presence of CEBPA-acquired mutations in hematological malignancies. In this work, we analyzed characteristics of mutations and their correlation with disease characteristics described in previous studies. In the 1175 patients reported, 146 CEBPA mutations were identified in 96 patients. Mutations were found in the whole gene sequence, but cluster regions were clearly identified. Furthermore, two categories of mutations were reported: out-of-frame ins/del often in the N-terminal region, and in-frame ins/del often in the C-terminal region. CEBPA mutations were reported exclusively in acute myeloid leukemia (AML) (according to WHO classification criteria) and mutated patients preferentially belonged to M1, M2 and M4 FAB subtypes. All but one case belonged to the 'intermediate' prognostic subgroup of MRC classification. In the absence of poor prognostic factors, patients with CEBPA mutation had favorable outcome, very similar to that of the t(8;21), inv(16), t(15;17) subgroup. Systematic analysis of CEBPA mutations, in addition to that of alterations in master genes of hematopoiesis, may be useful to assess the prognosis of AML particularly in patients belonging to the 'intermediate' prognostic subgroup.


Subject(s)
CCAAT-Enhancer-Binding Protein-alpha/genetics , Hematologic Neoplasms/genetics , Point Mutation/genetics , CCAAT-Enhancer-Binding Protein-alpha/physiology , Humans , Prognosis
20.
Leukemia ; 19(3): 367-72, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15674426

ABSTRACT

Despite the favorable prognosis of patients with acute myeloid leukemia (AML) with t(8;21)(q22;q22) translocation, relapses still occur in about 30% of the cases but no initial factors can strongly predict the risk of relapse. Several recent studies suggest that monitoring minimal residual disease (MRD) may identify patients at risk of relapse. We prospectively monitored AML1-ETO rearrangement by real-time quantitative PCR (RQ-PCR) in 21 patients uniformly treated in our center. Blood (PB) and bone marrow (BM) samples were collected during and after therapy. At diagnosis, levels of AML1-ETO transcript showed large variations and there was a trend for a higher relapse rate in patients with high pretreatment expression levels (P=0.065). After induction therapy, absolute transcript levels (below 10(-3), compared to Kasumi cell line), or a greater than 3 log decrease by comparison to diagnosis levels, were significant predictors of the absence of relapse (P=0.02 and P=0.02, respectively). MRD levels after consolidation therapy were also significant indicators of relapse (P=10(-5)). Comparison of BM and PB samples showed similar sensitivity for detecting AML1-ETO transcript. In conclusion, RQ-PCR appears to be an early predictive factor of the relapse risk in AML with t(8;21). PB samples can be used adequately to evaluate the level of MRD by this technique.


Subject(s)
Chromosomes, Human, Pair 21/genetics , Chromosomes, Human, Pair 8/genetics , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/genetics , Reverse Transcriptase Polymerase Chain Reaction/methods , Adolescent , Adult , Antineoplastic Agents/therapeutic use , Disease-Free Survival , Female , Gene Rearrangement , Humans , Leukemia, Myeloid, Acute/drug therapy , Male , Middle Aged , Predictive Value of Tests , Prognosis , Regression Analysis , Sensitivity and Specificity , Survival Rate , Translocation, Genetic/genetics
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