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1.
Cell Mol Biol (Noisy-le-grand) ; 61(7): 12-22, 2015 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-26567599

RESUMO

The objective of this study was to investigate the propensity of potassium bromate (KBrO3) to induce oxidative stress in blood and bone of adult mice and its possible attenuation by vanillin. Our results demonstrated, after KBrO3 treatment, a decrease of red blood cells and hemoglobin and a significant increase of white blood cell. A decrease in plasma levels of folic acid, vitamin B12 and iron was also noted. Interestingly, an increase of lipid peroxidation, hydroperoxides, hydrogen peroxide, advanced oxidation protein products and protein carbonyl levels in erythrocytes and bone was observed, while superoxide dismutase, catalase and glutathione peroxidase activities and glutathione, non-protein thiol and vitamin C levels were decreased. KBrO3 treatment resulted in blood and bone DNA fragmentation, a hallmark of genotoxicity-KBrO3-induced, with reduction of DNA levels. Calcium and phosphorus levels showed a decrease in the bone and an increase in the plasma after KBrO3 treatment. These biochemical alterations were accompanied by histological changes in the blood smear and bone tissue. Treatment with vanillin improved the histopathological, hematotoxic and genotoxic effects induced by KBrO3. The results showed, for the first time, that the vanillin possesses a potent protective effect against the oxidative stress and genotoxicity in bone and blood of KBrO3-treated mice.


Assuntos
Benzaldeídos/farmacologia , Doenças Ósseas/tratamento farmacológico , Bromatos/toxicidade , Doenças Hematológicas/tratamento farmacológico , Estresse Oxidativo/efeitos dos fármacos , Animais , Antioxidantes/metabolismo , Doenças Ósseas/induzido quimicamente , Doenças Ósseas/metabolismo , Cálcio/metabolismo , Fragmentação do DNA/efeitos dos fármacos , Enzimas/metabolismo , Eritrócitos/efeitos dos fármacos , Eritrócitos/metabolismo , Fêmur/efeitos dos fármacos , Fêmur/metabolismo , Fêmur/patologia , Ácido Fólico/sangue , Doenças Hematológicas/induzido quimicamente , Doenças Hematológicas/metabolismo , Peroxidação de Lipídeos/efeitos dos fármacos , Camundongos , Fósforo/metabolismo , Contagem de Plaquetas , Substâncias Protetoras/farmacologia , Vitamina B 12/sangue
2.
Pathol Biol (Paris) ; 63(4-5): 185-9, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26320393

RESUMO

BACKGROUND: Breast cancer is increasing among young women in Tunisia. Germline mutations in the BRCA1/2 genes are associated with a high risk for breast cancer development. However, the true contribution of BRCA1/2 mutation in sporadic breast cancer is not well documented. Our aim is to identify the BRCA2 mutation spectrum in Tunisian young women with breast cancer. METHODS: Screening the BRCA2 gene was performed using DHPLC, DNA sequencing and PCR-RFLP. RESULTS: We identified, in a woman diagnosed with early onset breast cancer, and without family history, a novel in frame deletion 5456delGTAGCA in the exon 11 of the BRCA2 gene which causes a loss of two residues Ser1743-Ser1744. The absence of this deletion in the patients' parents suggests that it is a de novo variant. Furthermore, we screened 108 sporadic cases, 50 familial cases, and 60 controls for the identified del6bp using PCR-RFLP. None of them carried this deletion suggesting that this variant is not a benign polymorphism and probably rare in our population. With regards to the position of the Ser1743-1744 in the BRCT domain, sequence alignment revealed that the Ser1743 is conserved among several species, which may reflect its importance in the BRCA2 function. A modeling of the wild-type and mutated BRC5-BRC6 domain revealed that the deletion of the 2 Serine residues might affect the structure of this BRCA2 domain. CONCLUSIONS: A novel in frame deletion 5456del6bp in BRCA2 gene was identified in an early onset woman with breast cancer and without family history.


Assuntos
Neoplasias da Mama/genética , Genes BRCA2 , Deleção de Sequência , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Sequência de Aminoácidos , Proteína BRCA2/química , Proteína BRCA2/fisiologia , Neoplasias da Mama/epidemiologia , Sequência Conservada , Éxons/genética , Feminino , Testes Genéticos , Humanos , Pessoa de Meia-Idade , Modelos Moleculares , Dados de Sequência Molecular , Proteínas de Neoplasias/química , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/fisiologia , Conformação Proteica , Estrutura Terciária de Proteína , Fases de Leitura/genética , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos , Serina/química , Especificidade da Espécie , Tunísia/epidemiologia , Adulto Jovem
5.
J Neonatal Perinatal Med ; 16(2): 355-359, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37270815

RESUMO

Inflammatory myofibroblastic tumors (IMT) are rare borderline tumors with a variable histological appearance that may mimic multiple mesenchymal tumors. We present a rare case of a challenging abdominal mass discovered in a premature newborn. The histopathology showed a bland myofibroblastic proliferation associated with an inflammatory infiltrate that was positive for smooth muscle actin and desmin but negative for anaplastic lymphoma kinase (ALK) protein. The diagnosis of an ALK-negative IMT was established. The tumor was partially resected. After six months of follow-up, the residual tumor remained stable, and the patient was asymptomatic. The correct diagnosis and subsequent treatment of ALK-negative IMT require appropriate histopathological, immunohistochemical, and sometimes genetic examination. Further research has to be conducted to help clinicians make an appropriate treatment plan.


Assuntos
Granuloma de Células Plasmáticas , Recém-Nascido , Humanos , Granuloma de Células Plasmáticas/diagnóstico , Granuloma de Células Plasmáticas/cirurgia , Granuloma de Células Plasmáticas/genética , Testes Genéticos
6.
Ann Dermatol Venereol ; 139(2): 128-31, 2012 Feb.
Artigo em Francês | MEDLINE | ID: mdl-22325752

RESUMO

BACKGROUND: Juvenile xanthogranuloma (JXG) is a form of self-healing non-Langerhans histiocytosis. We report a new case of disseminated JXG without visceral involvement but with positive immunostaining of the majority of histiocytes for protein S100. PATIENTS AND METHODS: A 6-month-old male infant was admitted to our department in January 2010 for congenital nodular lesions of varying size, shape and appearance. The remainder of the dermatological and physical examination was unremarkable. The diagnosis of disseminated JXG, strongly suggested clinically, was confirmed by a skin biopsy. However, immunohistochemistry was confusing, with positivity for protein S100. The lesions regressed spontaneously. DISCUSSION: The aim of this case report is to highlight the lack of any forced association between alarming skin lesions of eruptive JXG and systemic involvement. The distinguishing feature of our case is the positive immunostaining for protein S100 in the histological section, which although rare in XJG, does not cast doubt on the diagnosis of non-Langerhans histiocytosis providing the clinical presentation is typical. Therapeutic abstention is the rule.


Assuntos
Proteínas S100/biossíntese , Xantogranuloma Juvenil/metabolismo , Humanos , Lactente , Masculino , Xantogranuloma Juvenil/patologia
7.
Rev Stomatol Chir Maxillofac ; 113(5): 382-4, 2012 Nov.
Artigo em Francês | MEDLINE | ID: mdl-22209045

RESUMO

INTRODUCTION: Primary non-gestational extragonadal choriocarcinomas are uncommon and their head and neck localization more exceptional. OBSERVATION: We report on a primary choriocarcinoma case of the mandibular gingivae in a 26-year-old woman who presented with pulmonary and renal metastasis. Complete response (clinical, biological and radiological) was achieved with combined chemotherapy according to APE regimen associating actinomycin, cisplatin and etoposid. The patient was free of disease 4 years after therapy completion. DISCUSSION: Primary gingival mandibular choriocarcinoma is very rare. Clinical presentation is atypical; diagnosis is based on histopathological examination and positivity for HCG. Our case report showed high chemo-sensitivity and comparable outcome to the other localizations.


Assuntos
Coriocarcinoma não Gestacional/diagnóstico , Neoplasias Gengivais/diagnóstico , Neoplasias Maxilares/diagnóstico , Adulto , Coriocarcinoma não Gestacional/diagnóstico por imagem , Coriocarcinoma não Gestacional/patologia , Feminino , Neoplasias Gengivais/diagnóstico por imagem , Neoplasias Gengivais/patologia , Humanos , Neoplasias Maxilares/diagnóstico por imagem , Neoplasias Maxilares/patologia , Radiografia
8.
Rev Stomatol Chir Maxillofac ; 113(5): 370-4, 2012 Nov.
Artigo em Francês | MEDLINE | ID: mdl-22944594

RESUMO

INTRODUCTION: A hamartoma is a benign tumor-like malformation, often taking the form of vascular malformation such as hemangiomas and lymphangiomas; hamartoma composed of other tissue types are much rarer in the oral cavity, exceptionally reported in the palate. We report herein a new case of palatal hamartoma. Our aim is to describe the epidemiological, clinico-pathologic and therapeutic features of this lesion. OBSERVATION: A 53-years-old woman had a painless mass located on the right hard palate, measuring 2×1.5 cm of diameter, the mass was elastic with a smooth surface. On imaging, this mass was well-circumscribed, homogenous with moderate enhancement and thinning of the bone. A surgical excision was performed. Histological examination showed an ill-defined mass composed of hyperplasic salivary gland, nerve fibers, blood vessels and adipose tissue. According to these findings, the palatal lesion was interpreted as hamartoma. CONCLUSION: The palatal hamartoma can mimic clinically a malign neoplasm; its diagnosis is histological. Its treatment is essentially surgical. The prognosis is usually favorable without recurrence.


Assuntos
Hamartoma/diagnóstico , Doenças Maxilomandibulares/diagnóstico , Palato/patologia , Feminino , Hamartoma/diagnóstico por imagem , Hamartoma/patologia , Humanos , Doenças Maxilomandibulares/diagnóstico por imagem , Doenças Maxilomandibulares/patologia , Pessoa de Meia-Idade , Palato/diagnóstico por imagem , Tomografia Computadorizada por Raios X
9.
Braz J Biol ; 84: e265447, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36383787

RESUMO

The present study aimed to evaluate the in vitro antibacterial and antioxidant activities and the in vivo wound healing performance of a polysaccharide isolated from Glycyrrhiza glabra named PSG. It was structurally characterized by Fourier transformed infrared (FT-IR) spectroscopy, which confirmed the presence of different polysaccharides functional bands. The antioxidant capacity of PSG was determined in vitro and evaluated in vivo through the examination of wound healing capacity. Thirty two rats were randomly divided into four groups: group I was treated with physiological serum (negative control); group II was treated with "CYTOL CENTELLA®"; group III was treated with glycerol and group IV was treated with polysaccharide. The response to treatments was assessed by macroscopic, histologic, and biochemical parameters. Data revealed that our sample exhibited potential antioxidant activities and accelerated significantly the wound healing process, after ten days of treatment, proved by the higher wound appearance scores and a higher content of collagen confirmed by histological examination, when compared with control and "CYTOL CENTELLA®". Overall, these findings proved that this polysaccharide isolated from Glycyrrhiza glabra could be considered as a natural bioactive polymer for therapeutic process in wound healing applications.


Assuntos
Glycyrrhiza , Ratos , Animais , Ratos Wistar , Antioxidantes/farmacologia , Antioxidantes/química , Água , Espectroscopia de Infravermelho com Transformada de Fourier , Cicatrização/fisiologia , Polissacarídeos/farmacologia , Polissacarídeos/química , Extratos Vegetais/farmacologia , Extratos Vegetais/química
10.
Cancer Radiother ; 25(2): 155-160, 2021 Apr.
Artigo em Francês | MEDLINE | ID: mdl-33402291

RESUMO

PURPOSE: To describe the clinical, therapeutic and prognostic features of ductal carcinomas of the parotid gland. MATERIAL AND METHODS: Five patients with ductal carcinoma of the parotid gland (primary and secondary carcinoma) treated, between 2007 and 2019, in our ENT department, were reviewed. RESULTS: Four men and one woman were included. The mean age was 61,4 years. One patient had a history of an invasive ductal carcinoma of the breast. Four patients consulted for swelling in the parotid region. One patient referred to our department for dysfunction of facial nerve. Skin invasion was found in one case. Four patients underwent total parotidectomy with sacrifice of the facial nerve (three cases). One patient underwent extended parotidectomy involving the skin. An ipsilateral selective neck dissection was performed in four cases. One patient had a parotid gland biopsy. Ductal carcinoma was primary in four cases and metastatic from breast origin in one case. Four patients were treated with postoperative radiotherapy. Remission was obtained in three cases. One patient had a local and meningeal recurrence. The patient with metastatic carcinoma had pulmonary, bone, hepatic and brain progression. CONCLUSION: Ductal carcinoma is a rare and aggressive tumor of the parotid gland. It can be primary or secondary. The treatment is based on surgery and radiotherapy. The prognosis is poor.


Assuntos
Carcinoma Ductal/cirurgia , Neoplasias Parotídeas/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/patologia , Carcinoma Ductal/diagnóstico por imagem , Carcinoma Ductal/patologia , Carcinoma Ductal/secundário , Carcinoma Ductal de Mama/patologia , Carcinoma Ductal de Mama/secundário , Nervo Facial/cirurgia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Esvaziamento Cervical/estatística & dados numéricos , Invasividade Neoplásica , Glândula Parótida/diagnóstico por imagem , Glândula Parótida/cirurgia , Neoplasias Parotídeas/diagnóstico por imagem , Neoplasias Parotídeas/patologia , Neoplasias Parotídeas/secundário , Prognóstico , Estudos Retrospectivos , Neoplasias Cutâneas/patologia
13.
Ann Dermatol Venereol ; 137(3): 198-202, 2010 Mar.
Artigo em Francês | MEDLINE | ID: mdl-20227562

RESUMO

BACKGROUND: Cutaneous metastasis of colorectal cancer is rare. We report a case of fistular lesions of the buttocks revealing a mixed tumour of the appendix involving mucinous cystadenocarcinoma and carcinoid tumour. CASE REPORT: A 67-year-old woman was admitted for four skin fistulae of the right buttock present for 6 years. Histological examination of skin biopsy specimens identified infiltration of the dermis by metastatic mucinous adenocarcinoma while colonoscopy showed a caecal tumour measuring 4 cm. Surgical excision was performed involving right hemicolectomy, evacuation of retroperitoneal mucin collection and excision of fistulae. Histopathological examination of surgical specimen confirmed mixed tumour consisting of perforated mucinous cystadenocarcinoma and carcinoid tumour of the appendix. Recurrence of the fistular lesions was seen. The patient was hospitalized several times for surgical drainage of mucin. She died one year later. DISCUSSION: Cutaneous metastasis of colorectal cancer is an uncommon event that usually occurs after identification of the primary tumour and generally indicates advanced-stage disease and an ominous prognosis. This case is particular and underlines the need to rule out a metastatic origin of cutaneous fistulae, even in patients otherwise apparently in good health.


Assuntos
Neoplasias do Apêndice/patologia , Neoplasias do Ceco/patologia , Fístula Cutânea/etiologia , Cistadenocarcinoma Mucinoso/patologia , Neoplasias Primárias Múltiplas/patologia , Idoso , Tumor Carcinoide/patologia , Fístula Cutânea/patologia , Cistadenocarcinoma Mucinoso/secundário , Feminino , Humanos , Neoplasias Cutâneas/secundário
14.
Rev Stomatol Chir Maxillofac ; 111(1): 53-5, 2010 Feb.
Artigo em Francês | MEDLINE | ID: mdl-19932498

RESUMO

INTRODUCTION: Squamous cell carcinoma ex-pleomorphic adenoma (CXAP) is a malignant and rare mixed tumor. We report a new case. OBSERVATION: A seventy-year-old woman consulted for a mass in the left hemi-face having evolved over the last 20years. The physical examination revealed a hard and large tumor invading all the palate. Computed tomography revealed a heterogeneous 8.5cm long maxillary mass. The diagnosis of CXAP was made on a biopsy. A histological study confirmed the diagnosis after surgical resection of the tumor, specifying its noninvasive character. DISCUSSION: CXAP is generally located in the parotid gland; it is very rarely located in the palate. The degenerated epithelial component generally corresponds to an adenocarcinoma or an undifferentiated carcinoma; squamous-cell carcinoma is more rarely reported. The prognosis is excellent for the micro and noninvasive types. Surgery remains the treatment of choice.


Assuntos
Adenoma Pleomorfo/patologia , Amiloide/análise , Carcinoma de Células Escamosas/patologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Palatinas/patologia , Idoso , Biópsia , Núcleo Celular/ultraestrutura , Células Epiteliais/patologia , Feminino , Seguimentos , Humanos , Queratinas/análise , Neprilisina/análise , Tomografia Computadorizada por Raios X
15.
Rev Stomatol Chir Maxillofac ; 111(5-6): 337-9, 2010.
Artigo em Francês | MEDLINE | ID: mdl-20817224

RESUMO

UNLABELLED: Juvenile xanthogranuloma (JXG) is a cutaneous non-Langerhans cell histiocytosis affecting infants. We report the first case of JXG in the parotid gland of an adult. CLINICAL CASE: A 52 year-old man consulted for a painful swelling of the left parotid region, progressively increasing. On physical examination, the mass was 4 cm in diameter. A second 1.5 cm diameter tumor was found in the right parotid region. MRI revealed masses with heterogeneous hypodense on T1-weighted images and with hyper dense on T2 weighted images associated with heterogeneous enhancement after gadolinium injection. The superficial and deep lobes of the parotid gland were involved. Per-operative left-side exploration revealed a lipomatous degeneration of the parotid gland and facial nerve. A lower polar parotidectomy was performed. The histological examination identified a parotid xanthogranuloma. DISCUSSION: The JXG is usually revealed by cutaneous lesions. In fact, the morphological, immunohistochemical, and ultrastructural features of this affection lead to its diagnosis. Extra-cutaneous localizations are less frequent. The differential diagnosis is X histiocytosis.


Assuntos
Doenças Parotídeas/diagnóstico , Xantogranuloma Juvenil/diagnóstico , Antígenos CD/análise , Antígenos de Diferenciação Mielomonocítica/análise , Meios de Contraste , Diagnóstico Diferencial , Gadolínio , Humanos , Aumento da Imagem , Macrófagos/patologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doenças Parotídeas/patologia , Vimentina/análise , Xantogranuloma Juvenil/patologia
16.
Cancer Radiother ; 13(1): 61-4, 2009 Jan.
Artigo em Francês | MEDLINE | ID: mdl-19101191

RESUMO

The mucosa-associated lymphoid tissue (MALT) lymphoma is a distinct clinical pathologic entity that develops in diverse anatomic locations such as the stomach, salivary gland, thyroid, lung, skin and breast. However, colorectal involvement is extremely rare. To our knowledge, only ten cases of primary rectal MALT lymphoma have been reported in the literature. We report a 46-year-old woman with rectal MALT lymphoma, which regressed after radiotherapy. The patient had rectal bleeding. Colonoscopy showed a pseudonodular and ulcerated big fold in the rectum. Microscopic and immunohistologic studies of the biopsy specimen showed typical features of low grade MALT lymphoma. Upper endoscopy showed chronic gastritis with lymphoid follicles but without any infiltration of lymphoma cells. Helicobacter pylori infection was confirmed by histology. No extra-intestinal involvement was found on the staging evaluation, which included computed tomography (CT) of the abdomen, chest, pelvis and a bone marrow biopsy. We attempted to eradicate H. pylori with a 7-day course of omeprazole, amoxycillin, and metronidazole. Eradication was proved successful by endoscopy. Repeated colonoscopy 4 months after the end of treatment showed that the rectal tumor had not regressed. Biopsy specimens confirmed the persistent infiltration of lymphoma cells. The patient was considered to be a non-responder to eradication therapy and was indicated for radiotherapy. He underwent a total of 34 Gy. Complete regression was confirmed by colonoscopic and histologic examination at 2 months after the end of treatment. He was followed up closely with colonoscopy, but no relapse of these lesions was detected after 12 months.


Assuntos
Linfoma de Zona Marginal Tipo Células B/radioterapia , Neoplasias Retais/radioterapia , Biópsia , Doença Crônica , Colonoscopia , Feminino , Gastrite/complicações , Gastrite/diagnóstico , Gastrite/tratamento farmacológico , Hemorragia Gastrointestinal/etiologia , Infecções por Helicobacter/complicações , Infecções por Helicobacter/diagnóstico , Infecções por Helicobacter/tratamento farmacológico , Helicobacter pylori , Humanos , Imuno-Histoquímica , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Linfoma de Zona Marginal Tipo Células B/etiologia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Seleção de Pacientes , Dosagem Radioterapêutica , Doenças Raras , Doenças Retais/etiologia , Neoplasias Retais/diagnóstico , Neoplasias Retais/etiologia , Resultado do Tratamento
17.
Cancer Radiother ; 13(1): 37-41, 2009 Jan.
Artigo em Francês | MEDLINE | ID: mdl-18703371

RESUMO

PURPOSE: Breast mucinous carcinoma is a particular histological form characterized by the extracellular production of mucus. The pure form is rarely reported and its prognostic is better than the other types of the breast cancer. The aim of the present study was to discuss the various anatomoclinical, therapeutic aspects and the prognostic factors of the pure mucinous carcinoma of the breast. PATIENTS AND METHODS: We report seven cases diagnosed over a period of 11 years (1993-2003) in the laboratory of anatomy and pathological cytology of the university hospital of Sfax. A review of the clinical files with immunohistochemistry study (hormonal receptor, synaptophysine, chromogranine, Bcl2, Ki67, P53 and Her-2/neu (C-erbB-2)) were carried out for all the cases. RESULTS: pure colloid carcinoma of the breast accounted for 0,5% of the whole of the breast cancers. The average age of patients was 69 years. At the time of the diagnosis, four tumours were classified T4, one T3, two T2, two N1 and one N3; no patient had presented metastasis (M0) according to pTNM classification. The echomammography showed regular contours mass in four cases. The anatomopathological study showed that the neuroendocrine differentiation was found in two cases, all the tumours had presented positivity for the hormonal receptors (oestrogen and progesterone) and negativity for the other antibodies, two cases exhibited the Bcl2 positivity and negativity for the other antibodies. An adjuvant radiotherapy was carried out for all the patients. The average duration of follow-up was of 33 months; the evolution was marked by the occurrence of metastases in two cases. CONCLUSION: The pure colloid carcinoma of the breast constitutes a particular morphological entity which deserves to be individualized; neuroendocrine differentiation of these tumours must be required. Their forecast is relatively favourable.


Assuntos
Adenocarcinoma Mucinoso/diagnóstico , Neoplasias da Mama/diagnóstico , Adenocarcinoma Mucinoso/epidemiologia , Adenocarcinoma Mucinoso/metabolismo , Adenocarcinoma Mucinoso/terapia , Distribuição por Idade , Idoso , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/metabolismo , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/metabolismo , Neoplasias da Mama/terapia , Cromogranina A/análise , Feminino , Humanos , Imuno-Histoquímica , Antígeno Ki-67/análise , Estadiamento de Neoplasias , Prognóstico , Radioterapia Adjuvante , Doenças Raras , Receptor ErbB-2/análise , Receptores de Estrogênio/análise , Receptores de Progesterona/análise , Estudos Retrospectivos , Sinaptofisina/análise , Proteína Supressora de Tumor p53/análise , Tunísia/epidemiologia , Ultrassonografia Mamária
18.
Rev Med Interne ; 30(1): 88-90, 2009 Jan.
Artigo em Francês | MEDLINE | ID: mdl-18433941

RESUMO

Alport syndrome is a rare progressive hematuric nephropathy associated with sensorineural deafness. Leiomyomatosis associated with Alport syndrome is quite rare. We report a particular case of Alport syndrome which was diagnosed in the setting of an oesophageal leiomyomatosis. Alport syndrome and leiomyomatosis are caused by mutation of the genes encoding for the alpha chain of type IV collagen. In view of the important clinical and genetic implications, renal function and urinary status should be controlled in any patient with oesophageal leiomyomatosis.


Assuntos
Neoplasias Esofágicas/complicações , Leiomiomatose/complicações , Nefrite Hereditária/diagnóstico , Adulto , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/genética , Neoplasias Esofágicas/cirurgia , Esofagectomia , Humanos , Imuno-Histoquímica , Leiomiomatose/diagnóstico , Leiomiomatose/genética , Leiomiomatose/cirurgia , Masculino , Mutação , Nefrite Hereditária/complicações , Nefrite Hereditária/genética , Linhagem
19.
Rev Mal Respir ; 26(3): 333-7, 2009 Mar.
Artigo em Francês | MEDLINE | ID: mdl-19367209

RESUMO

INTRODUCTION: Rhabdomyosarcoma is the most common soft tissue sarcoma in the first two decades of life. Its most common location is the head and neck. It rarely arises in the thorax including the pleura. There are only 7 previously reported cases in the literature. We report a case of primary pleural rhabdomyosarcoma with an unusual clinical presentation and location. Our aim is to discuss the clinical presentation, treatment and prognosis of this uncommon location of rhabdomyosarcoma. CASE REPORT: We report a case of primary embryonal rhabdomyosarcoma of the pleura in a boy of 21 months. The presentation was characterized by recurrent spontaneous pneumothorax. A computed tomography scan showed only pleural detachment with no evidence of any pleural disease. The malignant cells incidentally found in routine pleural biopsy were the diagnostic clue. The rhabdomyoblastic nature of these cells was confirmed by positive immunostains for myoD1 and desmin. Investigation for metastases was negative. Despite chemotherapy, the tumour quickly increased in size and the infant died from acute respiratory failure. CONCLUSION: Thoracic rhabdomyosarcoma is rare and remains clinically silent for a long time. Its management is still controversial. Prognosis is generally poor when compared with other locations.


Assuntos
Neoplasias Pleurais/diagnóstico , Pneumotórax/etiologia , Rabdomiossarcoma/diagnóstico , Evolução Fatal , Humanos , Lactente , Masculino , Recidiva
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