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2.
Ann Pathol ; 41(3): 317-322, 2021 Jun.
Artigo em Francês | MEDLINE | ID: mdl-33931246

RESUMO

Malignant Triton tumour (MTT) is a subtype of malignant peripheral nerve sheaths tumour (MPNST) with exclusive heterologous rhabdomyosarcomatous contingent. MTT is rare and of poor prognosis. This entity illustrates the great heterogeneity of MPNST, the diagnosis of which is difficult in the absence of a specific marker, especially in sporadic forms. Although MTT preferentially develop in patients with type 1 neurofibromatosis, sporadic cases may occur. We herein present a case of MTT of the left arm, occurring in a 74-year-old patient, without clinical context of NF1. The fast-growing tumour reached 9.2cm of greater dimension at the time of surgical excision. Histology showed a spindle cell sarcoma with rhabdoid cell areas expressing myogenin. In the absence of neural crest markers expression, the diagnosis of MPNST was based on a significant loss of expression of the histone 3 tri-methylated lysine 27, a classical although not specific epigenetic mark for this sarcoma group, and on the identification of the heterologous rhabdomyosarcomatous contingent, previously described in the context of MTT.


Assuntos
Neoplasias de Bainha Neural , Neurofibromatose 1 , Neurofibrossarcoma , Sarcoma , Neoplasias Cutâneas , Neoplasias de Tecidos Moles , Idoso , Humanos , Neoplasias de Bainha Neural/diagnóstico , Neurofibrossarcoma/diagnóstico , Neurofibrossarcoma/genética , Sarcoma/diagnóstico , Sarcoma/genética
4.
Front Oncol ; 10: 1751, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33042820

RESUMO

Besides classic tobacco and alcohol risk factors, human papillomavirus (HPV) plays a role in the development of a subset of head and neck squamous cell carcinomas (HNSCCs), and notably oropharynx squamous cell carcinomas (OPSCCs). HPV-induced OPSCCs have a different biological behavior and a better prognosis compared to non-HPV-induced OPSCCs and the eighth-edition TNM classification now separates these two entities. Therefore, determining the HPV status of patients with OPSCC is now essential for treatment, prognosis, and development of clinical trials. In this review, after reminding essential steps of HPV implication in the cell cycle, we describe the existing tools that are currently feasible in routine practice according to facilities available in health structures, with their benefits and drawbacks: HPV PCR, E6/E7 mRNA RT-PCR, E6/E7 mRNA in situ hybridization, HPV DNA in situ hybridization, and P16 immunochemistry. Besides these traditional HPV detection tools, novel diagnostic approaches are being evaluated for HPV-induced OPSCC "ultrastaging." E6 humoral response and ddPCR-detecting HPVct DNA are two techniques performed on blood and are therefore non-invasive. Baseline E6 humoral levels could have a prognostic value, and HPVct DNA could be helpful for HPV OPSCC recurrence monitoring. At last, next-generation sequencing (NGS)-based "capture HPV" is a technique feasible on biopsies and circulating DNA material. It helps characterize HPV integration status and sites, and it could define prognostic subgroups in HPV-induced OPSCC. These novel precision detection tools could be further integrated in the care of patients with HPV-induced OPSCC.

5.
Clin Cancer Res ; 26(23): 6277-6283, 2020 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-32873570

RESUMO

PURPOSE: Desmoid-type fibromatosis (DF) are locally aggressive neoplasms, with a need for effective systemic treatment in case of progression to avoid the short- and long-term complications of local treatments. EXPERIMENTAL DESIGN: We retrospectively analyzed the outcomes of adult patients with DF treated with oral vinorelbine (90 mg once weekly) at Gustave Roussy Cancer Institute (Villejuif, Paris, France). Only patients with documented progressive disease according to RECIST v1.1 for more than 3 months (±2 weeks) before treatment initiation were included. RESULTS: From 2009 to 2019, 90 out of 438 patients with DF were eligible for this analysis. Vinorelbine was given alone in 56 patients (62%), or concomitantly with endocrine therapy in 34 patients, for a median duration of 6.7 months. A partial response was observed in 29% and stable disease in another 57%. With a median follow-up of 52.4 months, the median time to treatment failure (TTF) was not reached. Progression-free rates at 6 and 12 months were 88.7% and 77.5%, respectively. Concomitant endocrine therapy was associated with longer TTF in women [HR, 2.16; 95% confidence interval (CI), 1.06-4.37; P = 0.03). Among 64 patients with documented CTNNB1 mutational status, p.S45F or p.S45P mutations were associated with longer TTF compared with p.T41A or wild-type tumors (HR, 2.78; 95% CI, 1.23-6.27; P = 0.04). Toxicity profile was favorable, without grade 3-4 toxicity, except for one grade 3 neutropenia. CONCLUSIONS: Oral vinorelbine is an effective, affordable, and well-tolerated regimen in patients with advanced, progressive DF. Prolonged activity was observed in patients with tumors harboring CTNNB1 p.S45F or p.S45P mutations.


Assuntos
Antineoplásicos Fitogênicos/administração & dosagem , Biomarcadores Tumorais/genética , Fibromatose Agressiva/mortalidade , Mutação , Vinorelbina/administração & dosagem , beta Catenina/genética , Administração Oral , Adolescente , Adulto , Idoso , Feminino , Fibromatose Agressiva/tratamento farmacológico , Fibromatose Agressiva/genética , Fibromatose Agressiva/patologia , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Critérios de Avaliação de Resposta em Tumores Sólidos , Estudos Retrospectivos , Taxa de Sobrevida , Adulto Jovem
6.
Ann Pathol ; 40(2): 180-184, 2020 Apr.
Artigo em Francês | MEDLINE | ID: mdl-32192807

RESUMO

Fumarate hydratase (FH)-deficient uterine leiomyomas represent 1% of all uterine leiomyomas. They show distinctive morphology, and are often associated with a loss of expression of FH protein, secondary to the inactivation of the FH gene. They can occur sporadically or in the hereditary setting of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome associated with germline mutations of FH gene. So, it is relevant to consider this diagnosis in case of young women with numerous or bulky leiomyomas and evocative microscopic features, in particular at nuclear level. Genetic screening is essential to identify hereditary forms, which require appropriate surveillance and genetic screening of relatives. Here, we report the case of a 20cm uterine leiomyoma in a young 32-year-old woman, whose morphologic and immunohistochemical characteristics were suggestive of FH-deficient leiomyoma.


Assuntos
Fumarato Hidratase , Leiomiomatose , Síndromes Neoplásicas Hereditárias , Neoplasias Cutâneas , Neoplasias Uterinas , Adulto , Biomarcadores Tumorais/genética , Análise Mutacional de DNA , Feminino , Fumarato Hidratase/deficiência , Fumarato Hidratase/genética , Fumarato Hidratase/metabolismo , Mutação em Linhagem Germinativa , Humanos , Imuno-Histoquímica , Leiomiomatose/diagnóstico , Leiomiomatose/genética , Leiomiomatose/patologia , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia
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