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1.
Acta Neuropathol ; 126(3): 427-42, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23820807

RESUMO

L1 syndrome results from mutations in the L1CAM gene located at Xq28. It encompasses a wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype detected in utero, and whose pathophysiology is incompletely understood. The aim of this study was to report detailed neuropathological data from patients with mutations, to delineate the neuropathological criteria required for L1CAM gene screening in foetuses by characterizing the sensitivity, specificity and positive predictive value of the cardinal signs, and to discuss the main differential diagnoses in non-mutated foetuses in order to delineate closely related conditions without L1CAM mutations. Neuropathological data from 138 cases referred to our genetic laboratory for screening of the L1CAM gene were retrospectively reviewed. Fifty-seven cases had deleterious L1CAM mutations. Of these, 100 % had hydrocephalus, 88 % adducted thumbs, 98 % pyramidal tract agenesis/hypoplasia, 90 % stenosis of the aqueduct of Sylvius and 68 % agenesis/hypoplasia of the corpus callosum. Two foetuses had L1CAM mutations of unknown significance. Seventy-nine cases had no L1CAM mutations; these were subdivided into four groups: (1) hydrocephalus sometimes associated with corpus callosum agenesis (44 %); (2) atresia/forking of the aqueduct of Sylvius/rhombencephalosynapsis spectrum (27 %); (3) syndromic hydrocephalus (9 %), and (4) phenocopies with no mutations in the L1CAM gene (20 %) and in whom family history strongly suggested an autosomal recessive mode of transmission. These data underline the existence of closely related clinical entities whose molecular bases are currently unknown. The identification of the causative genes would greatly improve our knowledge of the defective pathways involved in these cerebral malformations.


Assuntos
Aqueduto do Mesencéfalo/anormalidades , Aqueduto do Mesencéfalo/patologia , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Hidrocefalia/patologia , Doenças do Sistema Nervoso/patologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Feminino , Humanos , Recém-Nascido , Mutação/genética , Doenças do Sistema Nervoso/genética , Molécula L1 de Adesão de Célula Nervosa/genética , Linhagem , Fenótipo , Gravidez
2.
Mod Pathol ; 25(9): 1246-57, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22627740

RESUMO

Multiparametric flow cytometry has proven to be a powerful method for detection and immunophenotypic characterization of clonal subsets, particularly in lymphoproliferative disorders of the B-cell lineage. Although in theory promising, this approach has not been comparably fulfilled in mature T-cell malignancies. Specifically, the T-cell receptor-Vß repertoire analysis in blood can provide strong evidence of clonality, particularly when a single expanded Vß family is detected. The purpose of this study was to determine the relevance of this approach when applied to biopsies, at the site of tumor involvement. To this end, 30 peripheral T-cell lymphoma and 94 control biopsies were prospectively studied. Vß expansions were commonly detected within CD4+ or CD8+ T cells (97% of peripheral T-cell lymphoma and 54% of non-peripheral T-cell lymphoma cases); thus, not differentiating malignant from reactive processes. Interestingly, we demonstrated that using a standardized evaluation, the detection of a high Vß expansion was closely associated with diagnosis of peripheral T-cell lymphoma, with remarkable specificity (98%) and sensitivity (90%). This approach also identified eight cases of peripheral T-cell lymphoma that were not detectable by other forms of immunophenotyping. Moreover, focusing Vß expression analysis to T-cell subsets with aberrant immunophenotypes, we demonstrated that the T-cell clone might be heterogeneous with regard to surface CD7 or CD10 expression (4/11 cases), providing indication on 'phenotypic plasticity'. Finally, among the wide variety of Vß families, the occurrence of a Vß17 expansion in five cases was striking. To our knowledge, this is the first report demonstrating the power of T-cell receptor-Vß repertoire analysis by flow cytometry in biopsies as a basis for peripheral T-cell lymphoma diagnosis and precise T-cell clone identification and characterization.


Assuntos
Linfócitos T CD4-Positivos/patologia , Linfócitos T CD8-Positivos/patologia , Citometria de Fluxo/métodos , Linfoma de Células T Periférico/diagnóstico , Receptores de Antígenos de Linfócitos T alfa-beta/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/metabolismo , Biópsia , Linfócitos T CD4-Positivos/metabolismo , Linfócitos T CD8-Positivos/metabolismo , Células Clonais , Feminino , Humanos , Imunofenotipagem , Tecido Linfoide/metabolismo , Tecido Linfoide/patologia , Linfoma de Células T Periférico/genética , Linfoma de Células T Periférico/metabolismo , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
3.
Hum Pathol ; 38(4): 660-7, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17134739

RESUMO

We report the first case of composite lymphoma involving both mantle cell lymphoma (MCL) and splenic marginal zone lymphoma (SMZL) with circulating villous lymphocytes. Morphological, immunohistochemical, immunophenotyping, as well as detailed genetic studies (fluorescence in situ hybridization, IGVH gene sequencing), were performed and confirmed the existence of 2 independent, unrelated tumor clones. The MCL component expressed IgMD lambda, was CD5+, harbored a t(11;14)(q13;q32) involving CCND1, and showed an unmutated VH1-18 gene rearrangement. The SMZL component expressed IgMD kappa, was CD5-, showed a t(10;14)(q24;q32) and an unmutated VH3-7 gene rearrangement. Interestingly, this t(10;14) targeted the NFKB2 gene. Only a single other case of SMZL with t(10;14)/NFKB2 has been reported. Taken together, these data indicate that the MCL and SMZL arose as a consequence of independent malignant transformation events within an antigen-naive B-cell population. This case highlights the importance of a multidisciplinary approach and tissue diagnosis in these complex situations.


Assuntos
Linfoma de Células B/patologia , Linfoma de Célula do Manto/patologia , Linfoma não Hodgkin/patologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Esplênicas/patologia , Idoso , Ciclina D , Ciclinas/genética , Humanos , Imuno-Histoquímica , Linfoma de Células B/química , Linfoma de Célula do Manto/química , Linfoma não Hodgkin/química , Masculino , Subunidade p52 de NF-kappa B/genética , Neoplasias Esplênicas/química
4.
J Clin Oncol ; 35(18): 2008-2017, 2017 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-28459613

RESUMO

Purpose To prospectively assess the clinical impact of expert review of lymphoma diagnosis in France. Materials and Methods From January 2010 to December 2013, 42,145 samples from patients with newly diagnosed or suspected lymphomas were reviewed, according to the 2008 WHO classification, in real time by experts through the Lymphopath Network. Changes in diagnosis between referral and expert review were classified as major or minor according to their potential impact on patient care. Results The 42,145 reviewed samples comprised 36,920 newly diagnosed mature lymphomas, 321 precursor lymphoid neoplasms, 314 myeloid disorders, and 200 nonhematopoietic neoplasms, with 4,390 benign lesions. There were 4,352 cutaneous and 32,568 noncutaneous lymphomas. The most common mature noncutaneous lymphomas were diffuse large B-cell lymphomas (32.4%), follicular lymphomas (15.3%), classic Hodgkin lymphomas (13%), peripheral T-cell lymphomas (6.3%) of which angioimmunoblastic T-cell lymphomas (2.3%) were the most frequent, and mucosa-associated lymphoid tissue lymphomas (5.8%). A diagnostic change between referral and expert review occurred in 19.7% of patients, with an estimated impact on patient care for 17.4% of patients. This rate was significantly higher for patients sent with a provisional diagnosis seeking expert second opinion (37.8%) than for patients sent with a formal diagnosis (3.7%). The most frequent discrepancies were misclassifications in lymphoma subtype (41.3%), with 12.3% being misclassifications among small B-cell lymphoma entities. Fewer than 2% of changes were between benign and malignant lymphoid conditions. Minor changes (2.3%) mostly consisted of follicular lymphoma misgrading and diffuse large B-cell lymphoma subtype misclassification. Conclusion To our knowledge, this study provides the largest ever description of the distribution of lymphoma entities in a western country and highlights how expert review significantly contributes to a precise lymphoma diagnosis and optimal clinical management in a proportion of patients.


Assuntos
Competência Clínica , Linfoma/diagnóstico , Linfoma/patologia , Patologia Clínica , França , Humanos , Linfoma/classificação , Linfoma/terapia , Gradação de Tumores , Estudos Prospectivos , Encaminhamento e Consulta
5.
Ann Pathol ; 24(1): 62-7, 2004 Feb.
Artigo em Francês | MEDLINE | ID: mdl-15192541

RESUMO

A 66-Year-old man presented with diplopia, headache and dizziness. Magnetic resonance imaging showed a right intrasphenoidal paracavernous mass. A biopsy was performed by endonasal route in the lesion which appeared to be part of the hypophyseal fossa. Histological examination revealed a highly cellular tumoral proliferation, with a variable architecture, of which chief cells were immunoreactive for neuroendocrine markers and spindle-shaped cells positive for PS 100. Morphological features were consistent with the diagnosis of paraganglioma. Our observation is the first case of this rare tumor reported in the French literature.


Assuntos
Neoplasias Encefálicas/patologia , Paraganglioma/patologia , Idoso , Humanos , Masculino , Sela Túrcica
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