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2.
J Comput Assist Tomogr ; 44(3): 356-369, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32217897

RESUMO

Neuronal and mixed glioneuronal tumors represent a group of neoplasms with varying degrees of neural and glial elements. Their age of presentation varies, but they are most commonly seen in children and young adults. With the exception of anaplastic ganglioglioma and other atypical variants, most lesions are low grade; however, they can have significant morbidity because of seizures, mass effect, or difficult to treat hydrocephalus. Although many tumors show overlapping clinical and imaging features, some have relatively distinctive imaging characteristics that may aid in narrowing the differential diagnosis. In this review, we discuss relevant clinical and pathologic characteristics of these tumors and provide an overview of conventional and advanced imaging features that provide clues as to the diagnosis.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Neuroepiteliomatosas/diagnóstico por imagem , Adolescente , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Neoplasias Encefálicas/patologia , Criança , Feminino , Síndrome do Hamartoma Múltiplo/diagnóstico por imagem , Síndrome do Hamartoma Múltiplo/patologia , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Neoplasias Neuroepiteliomatosas/patologia , Tomografia Computadorizada por Raios X , Adulto Jovem
3.
Clin Imaging ; 60(2): 180-185, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31927175

RESUMO

The phosphatase and tensin homolog (PTEN) located at 10q23.31 is a tumor suppressor gene expressed ubiquitously, and loss of function mutations lead to aberrant growth, angiogenesis, and an increased risk for a variety of tumors. PTEN mutations have been associated with multiple abnormalities in the central nervous system, and a number of clinical phenotypes are now attributed to germline PTEN mutations, collectively referred to as PTEN hamartoma tumor syndrome (PHTS). Most notably, these include Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and autism spectrum disorders with macrocephaly. It is important to recognize the neuroimaging features associated with PTEN mutations to not only avoid misdiagnosis in cases of known PHTS but also to guide genetic testing in patients who do not yet have an established diagnosis. In this review, the central nervous system imaging features of PTEN-related disorders are discussed.


Assuntos
Sistema Nervoso Central/patologia , Mutação em Linhagem Germinativa , Síndrome do Hamartoma Múltiplo/patologia , PTEN Fosfo-Hidrolase/genética , Anormalidades Múltiplas , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/patologia , Sistema Nervoso Central/diagnóstico por imagem , Feminino , Síndrome do Hamartoma Múltiplo/diagnóstico , Síndrome do Hamartoma Múltiplo/diagnóstico por imagem , Humanos , Masculino , Megalencefalia , Mutação , Fenótipo
4.
Dermatol Ther ; 32(6): e13097, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31612619

RESUMO

Vismodegib treatment of multiple basal cell carcinomas (BCCs) is limited by adverse effects and high relapse rates: intermittent regimens are therefore preferred for long-term administration. The objective of this study was to investigate clinical and dermoscopic changes in BCCs during long-term intermittent treatment and to identify those most indicative of tumor persistence/clearing. Clinical and dermoscopic images (n = 380 each) of 38 BCCs were acquired at 10 observation times (t0-t9). Biopsies were performed at baseline (t0) and after 72 weeks of treatment (t9). All images were evaluated retrospectively by experts who assessed the presence/absence of 12 clinical and 14 dermoscopic features: clinical scores (CScs) and dermoscopic scores (DScs) were then calculated.


Assuntos
Anilidas/uso terapêutico , Carcinoma Basocelular/tratamento farmacológico , Síndrome do Hamartoma Múltiplo/tratamento farmacológico , Piridinas/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Carcinoma Basocelular/patologia , Síndrome do Hamartoma Múltiplo/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
5.
Pan Afr Med J ; 33: 118, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31489096

RESUMO

Dysplastic gangliocytoma or Lhermitte-Duclos disease is a rare disorder characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. It is probably hamartomatous, although the exact pathogenesis remains unknown. Lhermitte-Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). It typically presents in young adults, although it has been encountered at all ages. We present the case of bilateral cerebellar location of this pathology in a 50-year-old man presented with a progressive onset and worsening of headaches accompanied by nuchal rigidity, photophobia and nausea awakening each morning. Upon physical examination, the patient was awake with a discrete right vestibular syndrome made of positive Romberg without nystagmus. Magnetic Resonance Imaging (MRI) was performed and revealed salient "tiger stripe" appearance of the bilateral cerebellar cortex relevant to a Lhermitte-Duclos disease.


Assuntos
Neoplasias Cerebelares/diagnóstico por imagem , Síndrome do Hamartoma Múltiplo/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Neoplasias Cerebelares/patologia , Síndrome do Hamartoma Múltiplo/patologia , Cefaleia/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Rigidez Muscular/etiologia , Náusea/etiologia , Fotofobia/etiologia
6.
Dermatol Online J ; 25(5)2019 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-31220904

RESUMO

Cowden syndrome (CS) is an infrequent genodermatosis caused by mutations in the phosphatase and tensin homolog (PTEN) gene in the majority of cases. As such, it belongs to the PTEN hamartoma tumor syndrome spectrum. This disease has a variable clinical expression characterized by the development of multiple hamartomatous tumors in different organs, usually during the second and third decades of life, and a high cumulative risk of several malignancies. We present a case of Cowden syndrome with late diagnosis presenting with a florid dermatological expression and multiple benign tumors, but no malignancies. A novel PTEN mutation was identified.


Assuntos
Fibroma/genética , Síndrome do Hamartoma Múltiplo/genética , Neoplasias Bucais/genética , PTEN Fosfo-Hidrolase/genética , Neoplasias Cutâneas/genética , Feminino , Fibroma/diagnóstico , Fibroma/etiologia , Fibroma/patologia , Folículo Piloso , Síndrome do Hamartoma Múltiplo/complicações , Síndrome do Hamartoma Múltiplo/diagnóstico , Síndrome do Hamartoma Múltiplo/patologia , Humanos , Pessoa de Meia-Idade , Neoplasias Bucais/diagnóstico , Neoplasias Bucais/etiologia , Neoplasias Bucais/patologia , Mutação , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/patologia
7.
Pediatr Dev Pathol ; 22(6): 579-583, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31166879

RESUMO

We report a rare case of sclerosing pneumocytoma occurring in a child with PTEN mutation. A 13-year-old female presented to the emergency department of an adult hospital following 2 to 3 days of upper respiratory tract infection symptoms. A primary lung lesion was discovered during her initial chest X-ray to rule out pneumonia. The patient underwent an uneventful thoracoscopic right upper lobe segmentectomy. The pathology demonstrated a sclerosing pneumocytoma of the lung. She tested positive for PTEN hamartoma tumor syndrome with a pathogenic variant at c.388 C > T. The PTEN mutation was also identified in the sclerosing pneumocytoma. Further study of PTEN mutation in sclerosing pneumocytoma is warranted.


Assuntos
Síndrome do Hamartoma Múltiplo/patologia , Neoplasias Pulmonares/patologia , PTEN Fosfo-Hidrolase/genética , Mutação Puntual , Adolescente , Feminino , Marcadores Genéticos , Síndrome do Hamartoma Múltiplo/diagnóstico , Síndrome do Hamartoma Múltiplo/genética , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética
8.
Actas Dermosifiliogr ; 110(9): 710-727, 2019 Nov.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31171301

RESUMO

The skin is the largest and most exposed organ in the human body and the ideal place to look for signs that aid in the early diagnosis of systemic diseases with cutaneous effects. As the concepts that underpin our understanding of many of these diseases have evolved or expanded in recent years, there have also been changes in the criteria we use for early diagnosis, including our approaches to skin biopsy and dermatopathologic evaluation. This review focuses on some of the systemic processes with skin manifestations for which our basic understanding has changed most in recent decades.


Assuntos
Dermatopatias/patologia , Pele/patologia , Doenças Autoimunes/patologia , Biópsia , Doenças do Sistema Digestório/patologia , Síndrome do Hamartoma Múltiplo/patologia , Linfadenite Histiocítica Necrosante/patologia , Humanos , Doença Relacionada a Imunoglobulina G4/patologia , Nefropatias/patologia , Lúpus Eritematoso Sistêmico/patologia , Síndrome de Muir-Torre/patologia , Nevo/genética , Nevo/patologia , Sarcoidose/patologia , Doença de Still de Início Tardio/patologia , Síndrome de Sweet/patologia , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genética
10.
J Clin Invest ; 129(2): 452-464, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30614812

RESUMO

The tumor suppressor phosphatase and tensin homolog (PTEN) classically counteracts the PI3K/AKT/mTOR signaling cascade. Germline pathogenic PTEN mutations cause PTEN hamartoma tumor syndrome (PHTS), featuring various benign and malignant tumors, as well as neurodevelopmental disorders such as autism spectrum disorder. Germline and somatic mosaic mutations in genes encoding components of the PI3K/AKT/mTOR pathway downstream of PTEN predispose to syndromes with partially overlapping clinical features, termed the "PTEN-opathies." Experimental models of PTEN pathway disruption uncover the molecular and cellular processes influencing clinical phenotypic manifestations. Such insights not only teach us about biological mechanisms in states of health and disease, but also enable more accurate gene-informed cancer risk assessment, medical management, and targeted therapeutics. Hence, the PTEN-opathies serve as a prototype for bedside to bench, and back to the bedside, practice of evidence-based precision medicine.


Assuntos
Medicina Baseada em Evidências , Mutação em Linhagem Germinativa , Síndrome do Hamartoma Múltiplo , Neoplasias Experimentais , PTEN Fosfo-Hidrolase , Medicina de Precisão , Animais , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/metabolismo , Transtorno do Espectro Autista/patologia , Transtorno do Espectro Autista/terapia , Síndrome do Hamartoma Múltiplo/genética , Síndrome do Hamartoma Múltiplo/metabolismo , Síndrome do Hamartoma Múltiplo/patologia , Síndrome do Hamartoma Múltiplo/terapia , Humanos , Neoplasias Experimentais/genética , Neoplasias Experimentais/metabolismo , Neoplasias Experimentais/patologia , Neoplasias Experimentais/terapia , PTEN Fosfo-Hidrolase/genética , PTEN Fosfo-Hidrolase/metabolismo , Fosfatidilinositol 3-Quinases/genética , Fosfatidilinositol 3-Quinases/metabolismo , Proteínas Proto-Oncogênicas c-akt/genética , Proteínas Proto-Oncogênicas c-akt/metabolismo , Transdução de Sinais/genética , Serina-Treonina Quinases TOR/genética , Serina-Treonina Quinases TOR/metabolismo
11.
Head Neck Pathol ; 13(1): 71-79, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30693457

RESUMO

Excluding human papillomavirus (HPV)-driven conditions, oral papillary lesions consist of a variety of reactive and neoplastic conditions and, on occasion, can herald internal malignancy or be part of a syndrome. The objectives of this paper are to review the clinical and histopathological features of the most commonly encountered non-HPV papillary conditions of the oral mucosa. These include normal anatomic structures (retrocuspid papillae, lingual tonsils), reactive lesions (hairy tongue, inflammatory papillary hyperplasia), neoplastic lesions (giant cell fibroma), lesions of unknown pathogenesis (verruciform xanthoma, spongiotic gingival hyperplasia) and others associated with syndromes (for instance Cowden syndrome) or representing paraneoplastic conditions (malignant acanthosis nigricans). Common questions regarding differential diagnosis, management, and diagnostic pitfalls are addressed, stressing the importance of clinico-pathologic correlation and collaboration.


Assuntos
Doenças da Boca/patologia , Mucosa Bucal/patologia , Neoplasias Bucais/patologia , Acantose Nigricans/patologia , Fibroma/patologia , Síndrome do Hamartoma Múltiplo/patologia , Humanos , Língua Pilosa/patologia , Xantomatose/patologia
13.
World Neurosurg ; 122: 16-23, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30366139

RESUMO

BACKGROUND: Dysplastic gangliocytoma of the cerebellum, also called Lhermitte-Duclos disease (LDD), is known as a rare, benign brain tumor. Around 200 cases have been reported. CASE DESCRIPTION: Here we introduced a newly diagnosed adult case with intratumoral hemorrhage. Then we reviewed 18 cases diagnosed in our institute, including 12 adults and 6 children. CONCLUSIONS: Preoperative diagnosis based on magnetic resonance imaging is 50% in adults and 16.7% in pediatrics. Diagnostic tiger stripes are not always seen in pediatric cases. The prognosis of the disease is good if total resection can be achieved. Further examinations for PTEN mutation and other comorbidities are recommended.


Assuntos
Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/cirurgia , Ganglioneuroma/diagnóstico por imagem , Ganglioneuroma/cirurgia , Síndrome do Hamartoma Múltiplo/diagnóstico por imagem , Síndrome do Hamartoma Múltiplo/cirurgia , Adulto , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/patologia , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/etiologia , Hemorragia Cerebral/cirurgia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Ganglioneuroma/complicações , Ganglioneuroma/patologia , Síndrome do Hamartoma Múltiplo/complicações , Síndrome do Hamartoma Múltiplo/patologia , Humanos , Masculino , Pessoa de Meia-Idade
14.
Acta Dermatovenerol Croat ; 27(4): 260-264, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31969239

RESUMO

Cowden syndrome (CS) is a rare autosomal dominant, hereditary, multiorgan disease with higher risk for malignancies (breast, thyroid, endometrium). Mucocutaneous lesions occur in 90% of cases and are characterized by facial trichilemmomas, oral mucosal papillomas, and benign acral keratoses. We present the case of a 39-year-old female patient with the chief complaint of "white spots" on the upper and lower attached gingiva accompanied with skin changes on the face, hands, and soles. The patient's family medical history revealed that her mother had an endometrial polyp and the sister had thyroid cancer. In the patient's medical personal history she reported follicular thyroid adenoma, thyroid abnormalities (i.e. lymphocytic thyroiditis), fibrocystic changes and juvenile breast papillomatosis, lipoma, multiple fibromas, and genitourinary tumors. Based on extensive family and personal medical history, physical examination and histopathological findings, diagnostic criteria were fulfilled for the diagnosis of Cowden syndrome.


Assuntos
Neoplasias Gengivais/etiologia , Neoplasias Gengivais/patologia , Síndrome do Hamartoma Múltiplo/complicações , Síndrome do Hamartoma Múltiplo/patologia , Papiloma/etiologia , Papiloma/patologia , Adulto , Feminino , Humanos
16.
Pediatr Neurosurg ; 53(6): 416-420, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30304734

RESUMO

Lhermitte-Duclos disease (LDD) is a rare, slow-growing, benign lesion of the cerebellum. It is often seen in the second and fourth decades. This disease is extremely rare in childhood. A 6-year-old girl presented with loss of balance. A mass lesion in the right cerebellum was detected by magnetic resonance imaging. The patient underwent surgical removal of the lesion, and the histological diagnosis was dysplastic gangliocytoma (LDD). The patient was discharged without complication, and her balance improved in the follow-up period. In this report, we present this rare occurrence in childhood and discuss the clinical course and management. LDD is very rare in early childhood and should be considered in the differential diagnosis of posterior fossa lesions.


Assuntos
Ganglioneuroma/diagnóstico por imagem , Ganglioneuroma/cirurgia , Síndrome do Hamartoma Múltiplo/diagnóstico por imagem , Síndrome do Hamartoma Múltiplo/cirurgia , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/cirurgia , Criança , Feminino , Ganglioneuroma/patologia , Síndrome do Hamartoma Múltiplo/genética , Síndrome do Hamartoma Múltiplo/patologia , Humanos , Imagem por Ressonância Magnética
17.
J Dermatol ; 45(10): 1187-1190, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30035302

RESUMO

Basal cell carcinoma (BCC), the most frequent skin cancer, has been increasing in incidence. However, the characteristics of multiple BCC have not been clarified in Japan. Therefore, we conducted a retrospective study to elucidate the features of multiple BCC compared with solitary BCC. The study population consisted of 327 patients with histopathologically proven BCC who were referred to the Department of Dermatology in Tottori University Hospital between November 2006 and April 2016. Of the 327 patients, 304 (93.0%) had solitary BCC and 23 (7.0%) had multiple BCC. The mean age of the patients with solitary BCC was 74.7 years (range, 31-102) and that of patients with multiple BCC was 79.3 years (range, 63-91). There was a significant difference in mean age between the two groups (P = 0.01). Approximately four-fifths of the BCC were located on the head or neck in the total study population. In the group of patients with multiple BCC, the incidence of lesions on the head and neck was lower and that on the trunk was higher than those in patients with solitary BCC. There was a significant difference in the tumor site between the two groups (P < 0.0001). With respect to tumor histopathology, the ratio of superficial BCC was significantly higher in the group of patients with multiple BCC than in the group of patients with solitary BCC (P < 0.0001). In conclusion, we demonstrated that older age, truncal location and superficial histopathological type of tumor are features of multiple BCC in Japanese subjects.


Assuntos
Carcinoma Basocelular/patologia , Síndrome do Hamartoma Múltiplo/patologia , Neoplasias Cutâneas/patologia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Carcinoma Basocelular/epidemiologia , Feminino , Síndrome do Hamartoma Múltiplo/epidemiologia , Cabeça , Humanos , Incidência , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Pescoço , Estudos Retrospectivos , Pele/patologia , Neoplasias Cutâneas/epidemiologia , Tronco
19.
Dis Model Mech ; 11(5)2018 05 21.
Artigo em Inglês | MEDLINE | ID: mdl-29716894

RESUMO

PTEN hamartoma tumour syndrome (PHTS) is a heterogeneous group of rare, autosomal dominant disorders associated with PTEN germline mutations. PHTS patients routinely develop hamartomas, which are benign tissue overgrowths comprised of disorganized 'normal' cells. Efforts to generate PHTS animal models have been largely unsuccessful due to the early lethality of homozygous germline mutations in Pten, together with the lack of hamartoma formation in most conditional mutants generated to date. We report herein a novel PHTS mouse model that reproducibly forms hamartoma-like lesions in the central retina by postnatal day 21. Specifically, we generated a Pten conditional knockout (cKO) using a retinal-specific Pax6::Cre driver that leads to a nearly complete deletion of Pten in the peripheral retina but produces a mosaic of 'wild-type' and Pten cKO cells centrally. Structural defects were only observed in the mosaic central retina, including in Müller glia and in the outer and inner limiting membranes, suggesting that defective mechanical integrity partly underlies the hamartoma-like pathology. Finally, we used this newly developed model to test whether rapamycin, an mTOR inhibitor that is currently the only PHTS therapy, can block hamartoma growth. When administered in the early postnatal period, prior to hamartoma formation, rapamycin reduces hamartoma size, but also induces new morphological abnormalities in the Pten cKO retinal periphery. In contrast, administration of rapamycin after hamartoma initiation fails to reduce lesion size. We have thus generated and used an animal model of retinal PHTS to show that, although current therapies can reduce hamartoma formation, they might also induce new retinal dysmorphologies.This article has an associated First Person interview with the first author of the paper.


Assuntos
Síndrome do Hamartoma Múltiplo/patologia , Retina/patologia , Animais , Animais Recém-Nascidos , Divisão Celular , Modelos Animais de Doenças , Células Ependimogliais/metabolismo , Células Ependimogliais/patologia , Síndrome do Hamartoma Múltiplo/tratamento farmacológico , Camundongos Knockout , Mosaicismo , Mutação/genética , Neuroglia/metabolismo , Neuroglia/patologia , PTEN Fosfo-Hidrolase/deficiência , PTEN Fosfo-Hidrolase/genética , PTEN Fosfo-Hidrolase/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Epitélio Pigmentado da Retina/patologia , Transdução de Sinais/efeitos dos fármacos , Sirolimo/administração & dosagem , Sirolimo/farmacologia , Serina-Treonina Quinases TOR/metabolismo
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