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1.
Pathobiology ; : 1-5, 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38718771

RESUMO

INTRODUCTION: Undifferentiated small round-cell sarcomas with BCL6 corepressor (BCOR) alterations, such as an internal tandem duplication (ITD) within exon 15, are typically described as a pediatric group of Ewing-like small round-cell sarcomas. CASE PRESENTATION: In contrast to this notion, we report the case of a 71-year-old woman with a nasosinusal sarcoma featuring a BCOR ITD. To the best of our knowledge, this presence had not been previously documented in a sarcoma of the nasal and sinus cavities in an elderly patient. The identified duplication shares a similar minimal critical region as described in clear-cell sarcomas of the kidney in children. This alteration, located within the PCGF1 binding domain, is believed to disrupt the activity of PRC1.1. CONCLUSION: This case underscores the need for in-depth research into the molecular biology of these rare tumors and explores potential alternative treatment options. The patient achieved remission after two cycles of doxorubicin and cyclophosphamide chemotherapy, highlighting the promise of potential therapeutic options for BCOR ITD sarcomas.

2.
Blood ; 131(2): 174-181, 2018 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-29061568

RESUMO

The benefit of radiotherapy (RT) after chemotherapy in limited-stage diffuse large B-cell lymphoma (DLBCL) remains controversial. We conducted a randomized trial in patients with nonbulky limited-stage DLBCL to evaluate the benefit of RT after rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP). Patients were stratified according to the modified International Prognostic Index, including lactate dehydrogenase, Eastern Cooperative Oncology Group performance status, age, and disease stage. The patients received 4 or 6 consecutive cycles of R-CHOP delivered once every 2 weeks, followed or not by RT at 40 Gy delivered 4 weeks after the last R-CHOP cycle. All patients were evaluated by fluorodeoxyglucose-positron emission tomography scans performed at baseline, after 4 cycles of R-CHOP, and at the end of treatment. The primary objective of the trial was event-free survival (EFS) from randomization. The trial randomly assigned 165 patients in the R-CHOP arm and 169 in the R-CHOP plus RT arm. In an intent-to-treat analysis with a median follow-up of 64 months, 5-year EFS was not statistically significantly different between the 2 arms, with 89% ± 2.9% in the R-CHOP arm vs 92% ± 2.4% in the R-CHOP plus RT arm (hazard ratio, 0.61; 95% confidence interval [CI], 0.3-1.2; P = .18). Overall survival was also not different at 92% (95% CI, 89.5%-94.5%) for patients assigned to R-CHOP alone and 96% (95% CI, 94.3%-97.7%) for those assigned to R-CHOP plus RT (P = not significant). R-CHOP alone is not inferior to R-CHOP followed by RT in patients with nonbulky limited-stage DLBCL. This trial was registered at www.clinicaltrials.gov as #NCT00841945.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/radioterapia , Anticorpos Monoclonais Murinos/administração & dosagem , Anticorpos Monoclonais Murinos/efeitos adversos , Anticorpos Monoclonais Murinos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Ciclofosfamida/administração & dosagem , Ciclofosfamida/efeitos adversos , Ciclofosfamida/uso terapêutico , Doxorrubicina/administração & dosagem , Doxorrubicina/efeitos adversos , Doxorrubicina/uso terapêutico , Feminino , Humanos , Estimativa de Kaplan-Meier , Linfoma Difuso de Grandes Células B/patologia , Masculino , Pessoa de Meia-Idade , Prednisona/administração & dosagem , Prednisona/efeitos adversos , Prednisona/uso terapêutico , Intervalo Livre de Progressão , Estudos Prospectivos , Rituximab , Resultado do Tratamento , Vincristina/administração & dosagem , Vincristina/efeitos adversos , Vincristina/uso terapêutico
3.
J Cutan Pathol ; 45(8): 610-614, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29660158

RESUMO

Acute myeloid leukemia (AML) may initially present as cutaneous lesions corresponding to blasts involving the skin as the first clinical manifestation prior to blood and bone marrow (BM) infiltration. Such presentation is known as myeloid leukemia cutis (LC). Blastic plasmocytoid dendritic cell neoplasm (BPDCN) is an aggressive tumor derived from the precursors of plasmocytoid dendritic cells with cutaneous and BM involvement and leukemic dissemination. Myeloid LC and BPDCN may be difficult to distinguish as they share similar clinical and histopathological features, in particular AML with monocytic differentiation. Nevertheless, the correct diagnosis has to be made to determine adequate and effective therapy. Here, we report the case of a 61-year-old woman who presented with an AML with MLL rearrangement and CD4+/CD56+ expression presenting as LC and that was misdiagnosed as BPDCN. We emphasize that careful and exhaustive analyses should be performed to make the correct diagnosis.


Assuntos
Antígenos CD4/metabolismo , Antígeno CD56/metabolismo , Leucemia Mieloide Aguda/diagnóstico , Neoplasias Cutâneas/diagnóstico , Pele/patologia , Biomarcadores Tumorais/metabolismo , Células Dendríticas/metabolismo , Células Dendríticas/patologia , Erros de Diagnóstico , Feminino , Humanos , Leucemia Mieloide Aguda/metabolismo , Leucemia Mieloide Aguda/patologia , Pessoa de Meia-Idade , Pele/metabolismo , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia
4.
Ann Rheum Dis ; 76(7): 1191-1198, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27965258

RESUMO

OBJECTIVES: Inflammasomes are multiprotein complexes that sense pathogens and trigger biological mechanisms to control infection. Nucleotide-binding oligomerisation domain-like receptor (NLR) containing a PYRIN domain 1 (NLRP1), NLRP3 and NLRC4 plays a key role in this innate immune system by directly assembling in inflammasomes and regulating inflammation. Mutations in NLRP3 and NLRC4 are linked to hereditary autoinflammatory diseases, whereas polymorphisms in NLRP1 are associated with autoimmune disorders such as vitiligo and rheumatoid arthritis. Whether human NLRP1 mutation is associated with autoinflammation remains to be determined. METHODS: To search for novel genes involved in systemic juvenile idiopathic arthritis, we performed homozygosity mapping and exome sequencing to identify causative genes. Immunoassays were performed with blood samples from patients. RESULTS: We identified a novel disease in three patients from two unrelated families presenting diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Molecular screening revealed a non-synonymous homozygous mutation in NLRP1 (c.2176C>T; p.Arg726Trp) in two cousins born of related parents originating from Algeria and a de novo heterozygous mutation (c.3641C>G, p.Pro1214Arg) in a girl of Dutch origin. The three patients showed elevated systemic levels of caspase-1 and interleukin 18, which suggested involvement of NLRP1 inflammasome. CONCLUSIONS: We demonstrate the responsibility of human NLRP1 in a novel autoinflammatory disorder that we propose to call NAIAD for NLRP1-associated autoinflammation with arthritis and dyskeratosis. This disease could be a novel autoimmuno-inflammatory disease combining autoinflammatory and autoimmune features. Our data, combined with that in the literature, highlight the pleomorphic role of NLRP1 in inflammation and immunity. TRIAL REGISTRATION NUMBER: NCT02067962; Results.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Reguladoras de Apoptose/genética , Artrite Juvenil/genética , Doenças Autoimunes/genética , Doenças Hereditárias Autoinflamatórias/genética , Dermatopatias/genética , Adolescente , Argélia , Artrite Juvenil/complicações , Artrite Juvenil/imunologia , Doenças Autoimunes/complicações , Doenças Autoimunes/imunologia , Linfócitos B/imunologia , População Negra , Caspase 1/imunologia , Criança , Consanguinidade , Feminino , Doenças Hereditárias Autoinflamatórias/complicações , Doenças Hereditárias Autoinflamatórias/imunologia , Homozigoto , Humanos , Interleucina-18/imunologia , Masculino , Mutação , Proteínas NLR , Países Baixos , Células Precursoras de Linfócitos B/imunologia , Dermatopatias/complicações , Dermatopatias/imunologia , Síndrome , População Branca
5.
Ann Pathol ; 37(5): 415-419, 2017 Oct.
Artigo em Francês | MEDLINE | ID: mdl-28935415

RESUMO

Hepatic myelolipoma is a rare entity with only 17 cases described in the literature. A 73mm right liver mass was fortuitously discovered in a 55-year-old man. The biopsy showed normal hepatic tissue adjacent to a normal medular like hematopoïetic tissue, showing trilieage hematopoieses, including myeloid cells, erythroid cells and megakaryocytic cells. The diagnosis of hepatic myelolipoma was proposed. This benign tumor was initially described in adrenal gland, which is the most common topography. No malignancy or bleeding complication has been described in its hepatical location. The diagnosis is histological due to non-specific radiological presentation; it allows to avoid a surgical treatment in relation to its excellent prognosis. The etiology is not well established; but some hypotheses are discussed: adrenal or medullar heterotopia, bone marrow embolism, myeloïd metaplasia.


Assuntos
Neoplasias Hepáticas/diagnóstico por imagem , Mielolipoma/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Linhagem da Célula , Diagnóstico Diferencial , Hematopoese , Humanos , Achados Incidentais , Neoplasias Hepáticas/etiologia , Neoplasias Hepáticas/patologia , Masculino , Pessoa de Meia-Idade , Mielolipoma/etiologia , Mielolipoma/patologia
6.
Br J Cancer ; 115(4): 425-30, 2016 08 09.
Artigo em Inglês | MEDLINE | ID: mdl-27434037

RESUMO

BACKGROUND: The careHPV assay is a test for high-risk (HR) human papillomaviruses (HPV) detection designed to be affordable in resource-poor settings. We evaluated the performance of careHPV screening among 1052 women living with HIV/AIDS included in the HARP (HPV in Africa Research Partnership) study in Burkina Faso (BF) and South Africa (SA). METHODS: Cervical samples were tested for HR-HPV by the careHPV and the INNO-LiPA HPV genotyping Extra assays. All women had Pap smear testing, visual inspection with acetic acid/Lugol's iodine (VIA/VILI) and colposcopy. Cervical biopsies were obtained for participants who were HR-HPV DNA positive by careHPV or who had abnormalities detected on cytology, VIA/VILI or colposcopy. RESULTS: Overall, 45.1% of women had a positive careHPV test (46.5% in BF, 43.8% in SA). The careHPV positivity rate increased with the grade of cytological lesions. Sensitivity and specificity of careHPV for the diagnosis of CIN2+ (n=60, both countries combined) were 93.3% (95% confidence interval (CI): 83.8-98.2) and 57.9% (95% CI: 54.5-61.2), respectively. Specificity increased with CD4 count. careHPV had a similar clinical sensitivity but higher specificity than the INNO-LiPA assay for detection of CIN2+. CONCLUSIONS: Our results suggest that careHPV testing is a reliable tool for cervical cancer screening in HIV-1-infected women in sub-Saharan Africa.


Assuntos
Infecções por Papillomavirus/diagnóstico , Displasia do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/diagnóstico , Ácido Acético , Adulto , Biópsia , Burkina Faso , Colposcopia , DNA Viral/análise , Detecção Precoce de Câncer , Feminino , Genótipo , Infecções por HIV/complicações , HIV-1 , Humanos , Iodetos , Pessoa de Meia-Idade , Teste de Papanicolaou , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/virologia , Estudos Prospectivos , Sensibilidade e Especificidade , África do Sul , Neoplasias do Colo do Útero/complicações , Neoplasias do Colo do Útero/virologia , Esfregaço Vaginal , Displasia do Colo do Útero/complicações , Displasia do Colo do Útero/virologia
7.
J Cutan Pathol ; 43(8): 697-701, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27080330

RESUMO

Eccrine nevi are rare hamartomas characterized by an increase in the number or size of eccrine glands. A polypoid form located in the coccygeal area has been described in a few cases and termed coccygeal polypoid eccrine nevus (CPEN). No association with internal malformations was reported in any of these cases. We describe herein a case of CPEN associated with imperforate anus and unilateral multicystic kidney dysplasia. We review the clinical and pathological characteristics of CPENs and discuss the differential diagnoses.


Assuntos
Anormalidades Múltiplas/patologia , Anus Imperfurado/complicações , Glândulas Écrinas/patologia , Hamartoma/patologia , Rim Displásico Multicístico/complicações , Feminino , Hamartoma/complicações , Humanos , Lactente , Região Sacrococcígea
8.
J Cutan Pathol ; 43(8): 702-6, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27080562

RESUMO

Cutaneous clear cell hidradenoma is an uncommon benign adnexal tumor which is not supposed to metastasize, contrary to its rare malignant counterpart, hidradenocarcinoma. We report the case of a 49-year-old man, who had had a stable inguinal lymph node enlargement for 6 years. An excision was performed and revealed an intra-nodal tumor, made of large clear cells with abundant cytoplasm and round nuclei without atypia or mitosis. The immunohistochemical staining showed diffuse positivity for keratin AE1/AE3, keratin 5/6 and p63, and focal staining with keratin 7, epithelial membrane antigen (EMA) and carcinous epithelial antigen (CEA), which underlined some ductular structures. Tumor cells were negative for renal markers PAX8 and CD10. Ki67 stained less than 1% of tumor cells. A translocation involving MAML2 gene was evidenced by fluorescence in situ hybridization (FISH) analysis. No primary cutaneous tumor was found after extensive examination. Altogether, these results are in favor of an isolated nodal hidradenoma, for which we discuss two hypothesis: a primary nodal lesion, or a 'benign metastasis' of a cutaneous tumor. Cases of morphologically benign hidradenoma with lymph node involvement are exceptional. Our case, similar to every other reported case, was associated with an excellent prognosis, supporting the idea that these patients should not be overtreated.


Assuntos
Acrospiroma/patologia , Linfonodos/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Acrospiroma/genética , Biomarcadores Tumorais/análise , Proteínas de Ligação a DNA/genética , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Proteínas Nucleares/genética , Neoplasias das Glândulas Sudoríparas/genética , Transativadores , Fatores de Transcrição/genética , Translocação Genética
9.
Dermatology ; 232(6): 721-730, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28384639

RESUMO

BACKGROUND/AIMS: Previous reports highlighted the potential interest of cetuximab alone or in combination with chemotherapy in locally advanced or metastatic cutaneous squamous cell carcinomas (cSCC) care. MATERIAL AND METHODS: To further evaluate the efficiency and safety of cetuximab in advanced cSCC, a single-center retrospective study including all patients treated with cetuximab alone or combined with carboplatin for locally advanced or metastatic cSCC was conducted in a tertiary referral center. The primary end point was the overall response rate (ORR) after 2 cycles of treatment. Secondary end points were best overall disease control rate (DCR), overall survival (OS), best response duration, progression-free survival (PFS), and toxicity profile. RESULTS: Of the 14 enrolled patients, no complete response was obtained after 2 cycles of treatment, but 3 partial responses and 6 stable diseases were observed. ORR and DCR were 21.4 and 64.3%, respectively. Median OS and PFS were 9.25 and 2.65 months, respectively. Median PFS was longer with combined treatment compared with cetuximab monotherapy (9.03 vs. 3.55 months). The safety profile was acceptable with a trend toward a relationship between acne-like rash and longer response (median PFS 5.2 vs. 2.2 months). DISCUSSION/CONCLUSION: In all series including ours, disease control is usually rapidly obtained with cetuximab alone or combined with conventional chemotherapy, although with a minority of partial responses and no complete response. However, this control is of short duration in most cases. The safety profile is acceptable. A randomized phase III trial is warranted to better assess the benefit/risk ratio.


Assuntos
Antineoplásicos Imunológicos/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma de Células Escamosas/tratamento farmacológico , Cetuximab/administração & dosagem , Neoplasias Cutâneas/tratamento farmacológico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/patologia , Tolerância a Medicamentos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/patologia , Análise de Sobrevida , Resultado do Tratamento , Adulto Jovem
10.
Optom Vis Sci ; 93(11): 1440-1443, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27560850

RESUMO

PURPOSE: Mastocytosis is characterized by clonal mast cell proliferation with accumulation within various organs and uncontrolled activation with excessive mast cell mediator release. Ocular manifestations have rarely been published. We describe a 63-year-old man with bilateral exophthalmos that led to the diagnosis of systemic mastocytosis. CASE REPORT: A patient presented with bilateral eyelid edema with exophthalmos associated with binocular diplopia. Ophthalmologic examination showed bilateral axial, symmetrical, and painless exophthalmos with eyelid edema, and limitation in elevation of the right eye. Visual acuity was normal. Orbital magnetic resonance imaging showed increased volume of both the superior and medial recti muscles and right inferior oblique muscle, and histopathological examination of orbital fat and muscle biopsies revealed an infiltration by mast cells. Serum tryptase was elevated. The patient also complained of a long history of pruritis and diffuse skin erythema that could be elicited with just mild pressure (Darier's sign). A bone marrow biopsy confirmed the infiltration of abnormal mast cells with a D816V mutation in the KIT gene. Treatment with cladribine was initiated and resulted in resolution of both ocular and systemic signs and symptoms that persisted without relapse 18 months after discontinuation. Ocular mastocytosis is a rare condition, which was previously reported to involve the conjunctiva, cornea, uvea, eyelid, orbit, and choroid. Cases of ocular mastocytosis can be classified into two main groups: mast cells tumors (mastocytomas) and ocular manifestations associated with systemic mastocytosis. Histological examination of ocular samples is rarely performed, and there are no standard criteria for the diagnosis of ocular mastocytosis. Our case emphasizes cladribine could represent an alternative treatment. CONCLUSIONS: Our case is the first published case of exophthalmos and eyelid edema associated with systemic mastocytosis confirmed by pathologic examination of periocular biopsies that was treated effectively with cladribine.


Assuntos
Diplopia/diagnóstico , Edema/diagnóstico , Exoftalmia/diagnóstico , Doenças Palpebrais/diagnóstico , Mastocitose Sistêmica/diagnóstico , Administração Oral , Diplopia/tratamento farmacológico , Edema/tratamento farmacológico , Exoftalmia/tratamento farmacológico , Doenças Palpebrais/tratamento farmacológico , Glucocorticoides/administração & dosagem , Humanos , Infusões Intravenosas , Masculino , Mastocitose Sistêmica/tratamento farmacológico , Metilprednisolona/administração & dosagem , Pessoa de Meia-Idade , Prednisona/administração & dosagem , Acuidade Visual
11.
Ann Pathol ; 35(2): 159-63, 2015 Apr.
Artigo em Francês | MEDLINE | ID: mdl-25746660

RESUMO

Basal cell carcinoma with matrical differentiation is a very rare variant of basal cell carcinoma. To our knowledge, less than 30 cases have been reported. This tumor is composed of basaloid lobules showing a differentiation toward the pilar matrix cells. Recently, it has been demonstrated that beta-catenin would interfer with physiopathogenesis of matrical tumors, in particular pilomatricomas, but also basal cell carcinomas with matrical differentiation. This is a new case, with immunohistochemical and molecular analysis of beta-catenin, in order to explain its histogenesis.


Assuntos
Carcinoma Basocelular/patologia , Mãos , Neoplasias Cutâneas/patologia , Idoso , Feminino , Humanos
12.
Ann Pathol ; 35(6): 489-95, 2015 Dec.
Artigo em Francês | MEDLINE | ID: mdl-26586087

RESUMO

We report the case of a 52-year-old man, who was admitted in the department of otorhinolaryngology for a mass of the right parotid gland. The radiological and clinical hypothesis was a squamous cell carcinoma. Histopathological examination revealed a biphasic proliferation composed of epithelial cells arranged in a tubular pattern stained with cytokeratins 5-6 and 7 and EMA surrounded by clear myoepithelial cells stained with smooth muscle actin and p63. Ki-67 labeling index was low. The diagnosis of epithelial myoepithelial carcinoma was proposed. One year after, the patient noticed a centimetric mass of the left parotid gland. The radiological hypothesis was the presence of an intraparotidian lymph node. Histopathological examination showed a second epithelial myoepithelial carcinoma. This is an uncommon neoplasm comprising approximately 1% of all salivary gland tumours, affecting mainly the parotid gland. It is occurring preferably in patients older than 60years old. This is a low-grade malignant tumour with tendency to local recurrence and lymph node metastatic potential. We describe an exceptional bilateral epithelial myoepithelial carcinoma of the parotid gland.


Assuntos
Carcinoma/patologia , Segunda Neoplasia Primária/patologia , Neoplasias Parotídeas/patologia , Adenoma Pleomorfo/diagnóstico , Biomarcadores Tumorais , Carcinoma/química , Carcinoma/diagnóstico , Carcinoma/cirurgia , Carcinoma de Células Escamosas/diagnóstico , Diagnóstico Diferencial , Humanos , Queratina-5/análise , Queratina-6/análise , Queratina-7/análise , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mucina-1/análise , Segunda Neoplasia Primária/química , Segunda Neoplasia Primária/diagnóstico , Segunda Neoplasia Primária/cirurgia , Neoplasias Parotídeas/química , Neoplasias Parotídeas/diagnóstico , Neoplasias Parotídeas/cirurgia
13.
BMC Cancer ; 14: 519, 2014 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-25037456

RESUMO

BACKGROUND: Since patients diagnosed with BRAF V600E and V600K mutated advanced melanoma show response to treatment with MAP kinase inhibitors, several sensitive methods have been developed to determine the V600 allele status of melanoma patients. Vemurafenib (Zelboraf) and dabrafenib (Tafinlar) are specific BRAF V600 inhibitors recently approved by the US FDA as single agent treatments for unresectable or metastatic melanoma in patients with the BRAF V600 mutation. METHODS: We assessed the new CE THxID™-BRAF diagnostic test, which is also FDA-approved as a companion diagnostic test in the US under a specific reference and compared the results of this assay with both High Resolution Melting (HRM) and Sanger sequencing in 113 melanoma FFPE samples. RESULTS: Invalid results were observed in 0/113 specimen with HRM, 5/113 (4.4%) with Sanger sequencing, and 1/113 (0.9%) with the THxID™-BRAF test. Positive percentage agreement (PPA) was 93.5% (95% CI 82.5 - 97.8) for V600E and V600K mutations combined for the THxID™-BRAF test and HRM, and negative percentage agreement (NPA) was 100.0% (95% CI 94.5 - 100.0). For the THxID™-BRAF test and Sanger, PPA was 100.0% (95% CI 92.1 - 100.0) and NPA 100.0% (95% CI 94.2 - 100.0). One V600E sample identified by THxID™-BRAF test was detected as wild-type by HRM and uninterpretable by Sanger. All V600K (n = 3) were detected using the 3 different approaches. Finally, percent agreement values were not significantly different when using punches (n = 77) vs. slides (n = 36) or depending on samples characteristics such as pigmentation, necrosis, and tumor content. CONCLUSIONS: This study demonstrated the high agreement between the FDA approved THxID™-BRAF assay, HRM, and Sanger sequencing. It has also highlighted the potential of THxID™-BRAF to be applied to a broader range of sample types than claimed in the current "instructions for use", an extension that would require the ad hoc validation and approval.


Assuntos
Melanoma/diagnóstico , Proteínas Proto-Oncogênicas B-raf/genética , Análise de Sequência de DNA/métodos , Feminino , Humanos , Masculino , Melanoma/genética , Pessoa de Meia-Idade , Mutação , Kit de Reagentes para Diagnóstico , Reprodutibilidade dos Testes , Estados Unidos , United States Food and Drug Administration
14.
Eur J Cancer ; 201: 113922, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38364629

RESUMO

OBJECTIVES: To analyse prognostic factors and survival outcomes of malignant tumors of the external auditory canal, to investigate the role of regional surgery, and adjuvant radiotherapy in early stages and to investigate the role of surgery in operable T4 stage. SETTING: A retrospective analysis was conducted on all patients prospectively included in the national database of the French Expertize Network for Rare ENT Cancers (REFCOR) from January 2000 to December 2016. PARTICIPANTS: 103 patients from 19 reference centers were included. A propensity score matching analysis was applied to enable comparisons between treatments. MAIN OUTCOMES AND MEASURES: Event-free survival, overall survival and factors of poor prognosis of the cohort were described. The interest of local and regional surgery and postoperative radiotherapy were evaluated. RESULTS: The factors of poor prognosis on event-free survival were immunosuppression (p = 0.002), Karnofsky status less than 90% (p = 0.02), body mass index less than 19 Kg / m2 (p = 0.0009), peripheric facial palsy (p = 0.0016), and positive margin (p = 0.0006). In early stages, locoregional surgery was associated with an increase in event-free survival (p = 0.003, HR = 0.21) versus local surgery alone, while postoperative radiotherapy was not associated with an increase in event-free survival (p = 0.86, HR = 0.91) or overall (p = 0.86, HR = 0.91). In locally advanced stages, locoregional surgery followed by radiotherapy was associated with an increase in event-free survival (p = 0.03, HR = 0.39) and overall (p = 0.02, HR = 0.34) versus chemoradiotherapy alone. CONCLUSION AND RELEVANCE: Regional surgery is recommended for early stages of cancers of the external auditory canal. In operable cases, locoregional surgery followed by radiotherapy is recommended.


Assuntos
Carcinoma de Células Escamosas , Meato Acústico Externo , Humanos , Estudos Retrospectivos , Pontuação de Propensão , Meato Acústico Externo/patologia , Carcinoma de Células Escamosas/patologia , Radioterapia Adjuvante , Prognóstico
15.
Int J Mol Sci ; 14(3): 5170-81, 2013 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-23459231

RESUMO

Accumulation of molecular alterations, including EGFR overexpression and mutations in KRAS and BRAF, contribute to colorectal carcinogenesis. Since intestinal-type adenocarcinoma (ITAC) of the nasal cavity and paranasal sinus has morphologic and phenotypic features that are usually indistinguishable from colorectal cancer (CRC), it is likely that both tumor types share equivalent genetic alterations. Data from a series of 43 patients treated surgically for ITAC in Montpellier, France between November 1998 and December 2012 were collected. Tumors were characterized for mutations in KRAS and BRAF as well as EGFR overexpression. Kaplan-Meier survival curves were constructed using overall survival as the primary end points. Patient survival was analyzed using the hazards ratio. Twenty seven tumors (63%) showed EGFR positivity and 30% exhibited a high expression level (+2/+3). KRAS mutations were detected in 43% of cases. BRAF mutations were identified in 3.6% of specimens. Patients with age superior to 60 years, metastatic status, and KRAS mutations had significant overall survival values (p = 0.026, p = 0.001 and p = 0.03, respectively). Our results indicate that KRAS mutations and EGFR expression are frequent in ITAC and that KRAS mutations predict good patient prognosis in ITAC. Finally, EGFR directed molecular treatments could be investigated in a subset of patients affected by ITAC.

16.
J Immunol ; 184(1): 134-40, 2010 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-19949101

RESUMO

gammadelta T lymphocytes are attractive effector cells for immunotherapy. In vitro, they can be expanded and kill efficiently a variety of tumor cells. The frequency and distribution of gammadelta T lymphocytes were compared in tumor lymph nodes of 51 patients with follicular lymphoma lymph nodes (FL-LNs) and 28 patients with inflammatory lymph nodes (I-LNs). gammadelta and CD8 T lymphocytes were less abundant in FL-LNs than in I-LNs (p

Assuntos
Linfonodos/patologia , Linfoma Folicular/sangue , Linfoma Folicular/imunologia , Linfoma Folicular/patologia , Linfócitos T/imunologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Linfócitos T CD8-Positivos/imunologia , Quimiocina CCL19/biossíntese , Quimiocina CCL21/biossíntese , Quimiocina CXCL12/biossíntese , Criança , Pré-Escolar , Feminino , Citometria de Fluxo , Humanos , Imuno-Histoquímica , Imunofenotipagem , Masculino , Pessoa de Meia-Idade , Receptores de Antígenos de Linfócitos T gama-delta/imunologia , Receptores CCR7/biossíntese , Receptores CXCR4/biossíntese , Subpopulações de Linfócitos T/imunologia , Adulto Jovem
18.
Ann Pathol ; 32(4): 263-6, 2012 Aug.
Artigo em Francês | MEDLINE | ID: mdl-23010400

RESUMO

Q fever is a worldwise zoonosis, caused by an obligate intracellular bacterium, Coxiella burnetii. In humans, acute disease, when symptomatic, can manifest by a flu-like illness, pneumonia or hepatitis. Patients with predisposing conditions can evolve with chronic disease, which major clinical presentation is endocarditis with negative routine blood cultures. Histological studies of Q fever based on infected organs biopsies (liver and bone marrow) have demonstrated a distinctive type of granuloma, typically appearing as a "doughnut" granuloma, characterized by a central clean space surrounded by inflammatory cells and rimmed with an eosinophilic fibrinoid material. We describe a 37-year-old man, admitted to hospital for persistent fever. Bone marrow biopsy showed the characteristic "doughnut" granuloma, suggesting a Q fever. Diagnosis was then confirmed by serological tests for C. burnetii.


Assuntos
Doenças da Medula Óssea/etiologia , Febre de Causa Desconhecida/diagnóstico , Granuloma/etiologia , Febre Q/diagnóstico , Adulto , Alanina Transaminase/sangue , Anticorpos Antibacterianos/sangue , Aspartato Aminotransferases/sangue , Doenças da Medula Óssea/microbiologia , Exame de Medula Óssea , Coxiella burnetii/imunologia , Coxiella burnetii/isolamento & purificação , Febre de Causa Desconhecida/etiologia , Granuloma/microbiologia , Histiócitos/ultraestrutura , Humanos , Macrófagos/microbiologia , Masculino , Febre Q/complicações , Redução de Peso
19.
Ann Pathol ; 32(4): 271-5, 2012 Aug.
Artigo em Francês | MEDLINE | ID: mdl-23010402

RESUMO

Eosinophilic angiocentric fibrosis is a rare fibro-inflammatory disorder of unknown etiology with only 40 cases reported in the literature. It primarily affects the sinonasal tract and more rarely the orbit, the larynx and the gums. This benign disorder is characterized by a slowly progressive process mimicking a tumor, with frequent recurrences after surgical excision and cortico-therapy. The typical histology consists of fibro-inflammatory lesion with numerous eosinophils, arranged in a perivascular pattern. As the lesion matures, inflammation becomes less intense and the fibrosis progresses with an onion-skin type perivascular fibrosis. A recent paper suggests that EAF is part of the spectrum of IgG4-related systemic disease. We report a case of orbital EAF in an 86-year-old woman which sustained this hypothesis.


Assuntos
Eosinofilia/patologia , Hipergamaglobulinemia/classificação , Imunoglobulina G/imunologia , Doenças Orbitárias/patologia , Corticosteroides/uso terapêutico , Idoso de 80 Anos ou mais , Linfócitos B/patologia , Diplopia/etiologia , Progressão da Doença , Eosinofilia/complicações , Eosinofilia/diagnóstico , Eosinofilia/tratamento farmacológico , Eosinofilia/imunologia , Exoftalmia/etiologia , Feminino , Fibrose , Humanos , Imageamento por Ressonância Magnética , Órbita/irrigação sanguínea , Doenças Orbitárias/complicações , Doenças Orbitárias/diagnóstico , Doenças Orbitárias/tratamento farmacológico , Doenças Orbitárias/imunologia , Plasmócitos/imunologia , Plasmócitos/patologia , Linfócitos T/patologia , Transtornos da Visão/etiologia
20.
J Med Virol ; 83(8): 1377-82, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21678441

RESUMO

The PapilloCheck® assay was compared with the Digene HC2 HPV DNA assay for the detection of 13 high-risk human papillomaviruses (HPV) in 240 samples, including 181 cervical scrapes and 59 anal scrapes. Overall, 75 (30.5%) samples were positive by the Digene HC2 HPV DNA assay: 34 (18.8%) cervical scrapes and 41 (69.5%) anal scrapes. By considering only the 13 high-risk HPV types detected by the Digene HC2 HPV DNA assay, 66 (27.5%) samples were positive by the PapilloCheck® assay: 27 (14.9%) cervical scrapes and 39 (66.1%) anal scrapes. Concordant results between the two assays were obtained for 225 (93.8%) samples with a Kappa coefficient value of 0.85, indicating an excellent agreement. By considering all the HPV types detectable by the PapilloCheck® assay, the overall prevalence of HPV was 34.2% (82/240): 21.0% (38/181) in cervical scrapes and 74.6% (44/59) in anal scrapes. Among the samples positive by the PapilloCheck® assay, a multiple HPV infection (2-9 HPV types) was identified in 43 of 82 (52.4%) samples, including 7 of 38 (18.4%) cervical samples, and 36 of 44 (81.8%) anal samples. The prevalence of high-risk HPV, as determined by the PapilloCheck® assay, was 17.6% (36/205) in samples with normal cytology, 83.9% (26/31) in samples with low-grade squamous intraepithelial lesions or atypical squamous cells of undetermined significance, and 100% (4/4) in samples with high-grade squamous intraepithelial lesions. The results obtained indicate that the PapilloCheck® assay may be considered as a reliable screening test for HPV detection and typing.


Assuntos
Canal Anal/virologia , Colo do Útero/virologia , DNA Viral/isolamento & purificação , Técnicas de Diagnóstico Molecular/métodos , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/diagnóstico , Virologia/métodos , Adulto , DNA Viral/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Papillomaviridae/genética , Infecções por Papillomavirus/virologia , Gravidez
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