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1.
Medicine (Baltimore) ; 99(48): e23450, 2020 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-33235131

RESUMO

RATIONALE: Mesonephric-like adenocarcinoma (MLA) from ovary is a very rare tumor which derives from mesonephric duct remnant of the female genital tract. Only six cases have been reported so far in the English literature. PATIENT CONCERNS: A 29-year-old female patient was referred to the local hospital with a 20-day history of abdominal discomfort. DIAGNOSES: Pelvic ultrasound examination revealed a solid and cystic mass measuring 10 cm in diameter in the right adnexal area and a cystic mass measuring 5 cm in the left adnexal area. Postoperative pathology in the local hospital revealed suspected malignancy of the right ovary, and she was then transferred to our institution for definite diagnosis. The tumor mass was finally diagnosed as a primary MLA arising from the right ovary by histological and immunohistochemical examination in our institution. INTERVENTIONS: The patient underwent laparoscopic right adnexectomy and removal of left ovarian cyst in the local institution. Then, she underwent a complete staging surgery including a total hysterectomy, left adnexectomy, pelvic plus para-aortic lymphadenectomy, and omentectomy in our hospital. In addition, she received four cycles of combination chemotherapy with carboplatin plus paclitaxel. OUTCOMES: There is no evidence of recurrence with 13 months of follow-up till now, and we are still following-up this patient. LESSONS: MLA is an extremely uncommon malignancy with difficult diagnosis, unclear treatment and poor prognosis. Familiarizing with the clinical features and optimal management of this rare tumor may increase awareness of the disease among clinicians and pathologists, thus avoiding the misdiagnosis and mistreatment.


Assuntos
Adenocarcinoma/patologia , Neoplasias Ovarianas/patologia , Adenocarcinoma/terapia , Adulto , Quimioterapia Adjuvante , Feminino , Humanos , Neoplasias Ovarianas/terapia , Doenças Raras/patologia , Ductos Mesonéfricos/patologia
2.
Bull Cancer ; 107(12): 1260-1273, 2020 Dec.
Artigo em Francês | MEDLINE | ID: mdl-33160607

RESUMO

Meningeal fibrous solitary tumors/hemangiopericytoma are rare and aggressive mesenchymal neoplasms considered as sarcomas. They represent less than 1% of intracranial tumors and derive from the pericytes of Zimmerman which permit capillary contraction. They tend to occur more often in males in the fifth decade. They are often revealed by intracranial hypertension. Some scannographic and MRI characteristics permit to distinguish meningeal fibrous solitary tumor/hemangiopericytoma from other meningeal tumors. Meningeal hemangiopericytoma and fibrous solitary tumors were considered as different entities until 2016. Following the discovery of an identical genetic event, the locus 12q13 chromosome inversion leading to a NAB2-STAT6 fusion with nuclear immunoreactivity for STAT6 protein, the 2016 WHO classification defines these tumors as a single entity. Meningeal fibrous solitary tumors/hemangiopericytoma have a high recurrence rate. Long-term recurrences may occur. Local relapses are more frequent than extracranial metastasis. A multimodal management is recommended to treat a localized disease. It involves a complete resection followed by adjuvant radiotherapy. When local recurrences occur, surgery or stereotactic radiosurgery permit sometimes a local control. Metastatic disease has a poor prognostic and a weak chimiosensitivity. Targeted therapies, like pazopanib, are a hopeful option.


Assuntos
Hemangiopericitoma , Neoplasias Meníngeas , Doenças Raras , Tumores Fibrosos Solitários , Inibidores da Angiogênese/uso terapêutico , Antineoplásicos/uso terapêutico , Inversão Cromossômica , Cromossomos Humanos Par 12 , Ensaios Clínicos como Assunto , Embolização Terapêutica , Feminino , Hemangiopericitoma/diagnóstico por imagem , Hemangiopericitoma/genética , Hemangiopericitoma/patologia , Hemangiopericitoma/terapia , Humanos , Hipertensão Intracraniana/etiologia , Imagem por Ressonância Magnética , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/genética , Neoplasias Meníngeas/patologia , Neoplasias Meníngeas/terapia , Recidiva Local de Neoplasia , Proteínas de Fusão Oncogênica/genética , Inibidores de Proteínas Quinases/uso terapêutico , Radioterapia Adjuvante , Doenças Raras/diagnóstico por imagem , Doenças Raras/genética , Doenças Raras/patologia , Doenças Raras/terapia , Proteínas Repressoras/genética , Fator de Transcrição STAT6/genética , Tumores Fibrosos Solitários/diagnóstico por imagem , Tumores Fibrosos Solitários/genética , Tumores Fibrosos Solitários/patologia , Tumores Fibrosos Solitários/terapia , Tomografia Computadorizada de Emissão , Ultrassonografia
3.
PLoS Genet ; 16(10): e1009054, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33001999

RESUMO

Genetic and molecular analysis of rare disease is made difficult by the small numbers of affected patients. Phenotypic comorbidity analysis can help rectify this by combining information from individuals with similar phenotypes and looking for overlap in terms of shared genes and underlying functional systems. However, few studies have combined comorbidity analysis with genomic data. We present a computational approach that connects patient phenotypes based on phenotypic co-occurence and uses genomic information related to the patient mutations to assign genes to the phenotypes, which are used to detect enriched functional systems. These phenotypes are clustered using network analysis to obtain functionally coherent phenotype clusters. We applied the approach to the DECIPHER database, containing phenotypic and genomic information for thousands of patients with heterogeneous rare disorders and copy number variants. Validity was demonstrated through overlap with known diseases, co-mention within the biomedical literature, semantic similarity measures, and patient cluster membership. These connected pairs formed multiple phenotype clusters, showing functional coherence, and mapped to genes and systems involved in similar pathological processes. Examples include claudin genes from the 22q11 genomic region associated with a cluster of phenotypes related to DiGeorge syndrome and genes related to the GO term anterior/posterior pattern specification associated with abnormal development. The clusters generated can help with the diagnosis of rare diseases, by suggesting additional phenotypes for a given patient and potential underlying functional systems. Other tools to find causal genes based on phenotype were also investigated. The approach has been implemented as a workflow, named PhenCo, which can be adapted to any set of patients for which phenomic and genomic data is available. Full details of the analysis, including the clusters formed, their constituent functional systems and underlying genes are given. Code to implement the workflow is available from GitHub.


Assuntos
Comorbidade , Predisposição Genética para Doença , Genômica , Doenças Raras/genética , Variações do Número de Cópias de DNA/genética , Bases de Dados Genéticas , Estudos de Associação Genética , Genoma Humano/genética , Genótipo , Humanos , Mutação/genética , Fenótipo , Doenças Raras/diagnóstico , Doenças Raras/patologia
4.
Anticancer Res ; 40(10): 5853-5860, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32988915

RESUMO

BACKGROUND/AIM: The optimal treatment sequencing for asymptomatic de novo metastatic rectal cancer is unclear. The aim of this study was to investigate the role of upfront radiotherapy, with or without chemotherapy on risk for local complications, in patients with asymptomatic advanced metastatic rectal cancer treated with palliative intention. PATIENTS AND METHODS: All patients with de novo metastatic rectal cancer diagnosed between January 2008 and December 2017 in two healthcare regions in Sweden (Örebro län, Sörmland) were identified and data were extracted from electronic medical records. Patients were divided into 3 groups based on treatment sequence: upfront radiotherapy, upfront chemotherapy, and only palliative surgery. RESULTS: In total, 102 patients were included in the study cohort, 30 patients in upfront radiotherapy group, 54 in upfront chemotherapy, and 18 in only palliative surgery group. Patients with only upfront CT [odds ratio (OR)= 5.10; 95% confidence interval (CI)=1.24-20.91, p=0.024] had a higher risk to suffer from a local complication compared to those who received upfront radiotherapy. Cause-specific Cox regression analysis among patients who received oncological therapy revealed that female patients [cause-specific hazard ratio (csHR)=3.61; 95% confidence interval (CI)=1.67-7.81] and upfront chemotherapy [csHR=1.85; 95% CI=1.11-3.77] were associated with increased cumulative incidence of local complication over time, whereas primary surgery with ostomy or stent with lower risk [csHR=0.45; 95% CI=0.21-0.99]. CONCLUSION: Patients who received upfront radiotherapy, with or without chemotherapy, had fewer local complications due to primary tumor compared to patients who only received chemotherapy. This could indicate that radiotherapy to the primary tumor could be discussed with the patients as a first treatment option for asymptomatic metastatic rectal cancer to prevent local complications later during the disease.


Assuntos
Doenças Assintomáticas/terapia , Doenças Raras/radioterapia , Neoplasias Retais/radioterapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Assintomáticas/epidemiologia , Estudos de Coortes , Terapia Combinada , Feminino , Humanos , Masculino , Oncologia/tendências , Pessoa de Meia-Idade , Cuidados Paliativos , Modelos de Riscos Proporcionais , Doenças Raras/tratamento farmacológico , Doenças Raras/patologia , Doenças Raras/cirurgia , Neoplasias Retais/tratamento farmacológico , Neoplasias Retais/patologia , Neoplasias Retais/cirurgia , Suécia/epidemiologia
6.
Am J Hum Genet ; 107(3): 527-538, 2020 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-32758447

RESUMO

Generalized pustular psoriasis (GPP) is a severe multi-systemic inflammatory disease characterized by neutrophilic pustulosis and triggered by pro-inflammatory IL-36 cytokines in skin. While 19%-41% of affected individuals harbor bi-allelic mutations in IL36RN, the genetic cause is not known in most cases. To identify and characterize new pathways involved in the pathogenesis of GPP, we performed whole-exome sequencing in 31 individuals with GPP and demonstrated effects of mutations in MPO encoding the neutrophilic enzyme myeloperoxidase (MPO). We discovered eight MPO mutations resulting in MPO -deficiency in neutrophils and monocytes. MPO mutations, primarily those resulting in complete MPO deficiency, cumulatively associated with GPP (p = 1.85E-08; OR = 6.47). The number of mutant MPO alleles significantly differed between 82 affected individuals and >4,900 control subjects (p = 1.04E-09); this effect was stronger when including IL36RN mutations (1.48E-13) and correlated with a younger age of onset (p = 0.0018). The activity of four proteases, previously implicated as activating enzymes of IL-36 precursors, correlated with MPO deficiency. Phorbol-myristate-acetate-induced formation of neutrophil extracellular traps (NETs) was reduced in affected cells (p = 0.015), and phagocytosis assays in MPO-deficient mice and human cells revealed altered neutrophil function and impaired clearance of neutrophils by monocytes (efferocytosis) allowing prolonged neutrophil persistence in inflammatory skin. MPO mutations contribute significantly to GPP's pathogenesis. We implicate MPO as an inflammatory modulator in humans that regulates protease activity and NET formation and modifies efferocytosis. Our findings indicate possible implications for the application of MPO inhibitors in cardiovascular diseases. MPO and affected pathways represent attractive targets for inducing resolution of inflammation in neutrophil-mediated skin diseases.


Assuntos
Inflamação/genética , Interleucinas/genética , Peroxidase/genética , Psoríase/genética , Dermatopatias/genética , Adulto , Animais , Citocinas/genética , Armadilhas Extracelulares/genética , Feminino , Humanos , Inflamação/patologia , Interleucina-1/genética , Interleucinas/metabolismo , Masculino , Camundongos , Mutação/genética , Neutrófilos/metabolismo , Psoríase/patologia , Doenças Raras/enzimologia , Doenças Raras/genética , Doenças Raras/patologia , Pele/enzimologia , Pele/patologia , Dermatopatias/patologia
7.
J Cancer Res Ther ; 16(3): 630-633, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32719279

RESUMO

Malignant peripheral nerve sheath tumors (MPNSTs) of parapharyngeal space are rare and if present are most often in association with neurofibromatosis type 1 (NF-1). Only a few cases of MPNST have been reported in the literature without coexisting NF. We report one such case of an MPNST of parapharyngeal space tumor in a 35-year-old female with no associated features of NF-1. She presented with right-sided neck swelling and ptosis. Magnetic resonance imaging showed a 7 cm × 8 cm × 11 cm irregular swelling in the right parapharyngeal space with invasion of surrounding muscles. The mass was excised using a transcervical approach. Postoperative histopathological examination of the specimen revealed MPNST possibly arising from the cervical sympathetic chain.


Assuntos
Neurofibrossarcoma/patologia , Neoplasias Faríngeas/patologia , Sistema Nervoso Simpático/patologia , Adulto , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Pescoço/diagnóstico por imagem , Pescoço/patologia , Neurofibrossarcoma/diagnóstico por imagem , Neurofibrossarcoma/cirurgia , Espaço Parafaríngeo/diagnóstico por imagem , Espaço Parafaríngeo/patologia , Neoplasias Faríngeas/diagnóstico por imagem , Neoplasias Faríngeas/cirurgia , Doenças Raras/diagnóstico por imagem , Doenças Raras/patologia , Doenças Raras/cirurgia , Sistema Nervoso Simpático/diagnóstico por imagem , Sistema Nervoso Simpático/cirurgia
8.
J Cancer Res Ther ; 16(3): 647-652, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32719283

RESUMO

The leiomyoma is a benign smooth-muscle neoplasm commonly found in the female genital tract, gastrointestinal tract, or skin. Leiomyomas of the oral cavity are unusual. Oral leiomyomas are uncommon due to the paucity of the smooth muscle in the mouth (except in blood vessels) and thus the involvement of jaw bones is extremely rare. Leiomyomas have been classified as solid angiomyoma, angioleiomyoma (vascular leiomyoma), and epithelioid variants. Angioleiomyomas are benign mesenchymal tumors derived from smooth muscle, which rarely occur in the oral cavity. Malignant transformation probably does not occur but careful histopathologic examination is still necessary to differentiate these benign lesions from their malignant counterparts due to different prognosis. Although uncommon in the maxilla and mandible, they should be included in the differential diagnosis of radiolucent lesions of jaw bones. An extensive search of literature was carried out on the Medline-PubMed and Google Scholar database using the keywords such as leiomyoma, angioleiomyoma, jaw bones, maxilla, mandible, intra-osseous to thoroughly search and collect all the reported cases of intraosseous leiomyoma (but our search was not limited to these terms only). To the best of our knowledge, only 23 cases of intraosseous leiomyomas have been reported so far in the jaw bones, among which only 8 belonged to angioleiomyomas. Herein, we report the 9th case of intraosseous angioleiomyoma, one of the variants of leiomyoma and overall 24th intraosseous leiomyoma in a 6-year-old female child, together with conventional histopathologic and immunohistochemical findings.


Assuntos
Angiomioma/patologia , Neoplasias Mandibulares/patologia , Doenças Raras/patologia , Actinas/metabolismo , Angiomioma/metabolismo , Angiomioma/cirurgia , Antígenos CD34/metabolismo , Biomarcadores Tumorais/metabolismo , Criança , Feminino , Humanos , Neoplasias Mandibulares/metabolismo , Neoplasias Mandibulares/cirurgia , Músculo Liso/metabolismo , Músculo Liso/patologia , Doenças Raras/metabolismo , Doenças Raras/cirurgia
9.
J Cancer Res Ther ; 16(3): 661-664, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32719286

RESUMO

The present case report is a case of peripheral dentinogenic ghost cell tumor (PDGCT), an extremely rare solid benign neoplastic variant of calcifying cystic odontogenic tumor of the gingiva mimicking clinically as pyogenic granuloma, fibroma, peripheral ossifying fibroma, and peripheral giant-cell granuloma. A 24-year-old male reported with painless, firm, solitary, sessile, smooth-surfaced, nonulcerative, nonpulsatile, well-defined swelling measuring ≈12 mm × 9 mm in the interdental gingiva of the teeth #13 and #14 extending to the mucogingival junction. Intraoral periapical radiographic showed a normal trabecular pattern with mild radiolucency without bony expansion, periapical lesion, and resorption of the adjacent teeth. The diagnosis was established by histopathologic examination. Very few cases of this entity have been documented in the literature. The present case report aims to document this rare entity and emphasizes on the fact that histopathological examination of every localized gingival growth should be included in the treatment planning to differentiate with other commonly found lesions.


Assuntos
Dente Canino/patologia , Neoplasias Gengivais/patologia , Granuloma de Células Gigantes/patologia , Neoplasias Maxilares/patologia , Doenças Raras/patologia , Adulto , Dente Canino/cirurgia , Neoplasias Gengivais/cirurgia , Granuloma de Células Gigantes/cirurgia , Humanos , Masculino , Neoplasias Maxilares/cirurgia , Prognóstico , Doenças Raras/cirurgia , Adulto Jovem
10.
J Cancer Res Ther ; 16(3): 675-679, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32719290

RESUMO

Acinic cell carcinoma (ACC) is a low-grade malignant salivary gland neoplasm that comprises approximately 17% of primary salivary gland malignancies or about 6% of all salivary gland neoplasms. The most common intraoral sites are the buccal mucosa, lips, and palate. The diagnosis of ACC frequently presents difficulties, owing to its great radiological and cytological similarity with benign tumors and with normal acinar component of the salivary gland, respectively. The management of ACC consists of complete surgical excision. Here, we report a case of ACC on the left retromolar trigone, a rare location in a 44-year-old female.


Assuntos
Carcinoma de Células Acinares/patologia , Mucosa Bucal/patologia , Doenças Raras/patologia , Neoplasias das Glândulas Salivares/patologia , Adulto , Carcinoma de Células Acinares/cirurgia , Feminino , Humanos , Mucosa Bucal/cirurgia , Prognóstico , Doenças Raras/cirurgia , Neoplasias das Glândulas Salivares/cirurgia
11.
Fortschr Neurol Psychiatr ; 88(8): 528-531, 2020 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-32634845

RESUMO

Posterior cortical atrophy (PCA) is a rare neurodegenerative disease, which manifests with complex visual disturbances. PCA can present in isolation ('PCA-pure') or in association with other neurodegenerative disorders ('PCA-plus'). Diagnosis is nevertheless frequently delayed, as PCA is a less known disease entity and initially a primary ocular disease is taken into consideration.


Assuntos
Atrofia/patologia , Córtex Cerebral/patologia , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/patologia , Transtornos da Visão/diagnóstico , Diagnóstico Tardio , Humanos , Doenças Raras/diagnóstico , Doenças Raras/patologia , Síndrome , Transtornos da Visão/patologia
12.
BMC Cancer ; 20(1): 516, 2020 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-32493317

RESUMO

BACKGROUND: Trichilemmal carcinoma (TC) is an extremely rare hair follicle tumor. We aimed to explore the genetic abnormalities involved in TC to gain insight into its molecular pathogenesis. METHODS: Data from patients diagnosed with TC within a 12-year period were retrospectively reviewed. Genomic DNA isolated from a formalin-fixed paraffin-embedded (FFPE) tumor tissue block was sequenced and explored for a panel of cancer genes. RESULTS: DNA was extracted from the FFPE tissue of four patients (50% female; mean age, 51.5 years) diagnosed with TC for analysis. The tumor was located in the head and neck of three patients and in the shoulder of one patient. TP53 mutations (p.Arg213*, p.Arg249Trp, and p.Arg248Gln) were found in three patients. Fusions previously identified in melanoma were detected in two patients (TACC3-FGFR3 and ROS1-GOPC fusions). Other mutations found included NF1-truncating mutation (Arg1362*), NRAS mutation (p.Gln61Lys), TOP1 amplification, and PTEN deletion. Overall, genetic changes found in TC resemble that of other skin cancers, suggesting similar pathogenesis. All patients with TP53 mutations had aggressive clinical course, two who died (OS 93 and 36 months), and one who experienced recurrent relapse. CONCLUSIONS: We reported the genomic variations found in TC, which may give insight into the molecular pathogenesis. Overall, genetic changes found in TC resembled that of other skin cancers, suggesting similar pathogenesis. TP53 mutations was were identified in patients who had an aggressive clinical course. Genetic alterations identified may further suggest the potential treatment options of TC.


Assuntos
Biomarcadores Tumorais/genética , Carcinoma/genética , Folículo Piloso/patologia , Doenças Raras/genética , Neoplasias Cutâneas/genética , Adulto , Idoso , Carcinoma/mortalidade , Carcinoma/patologia , DNA Topoisomerases Tipo I/genética , Intervalo Livre de Doença , Evolução Fatal , Feminino , GTP Fosfo-Hidrolases/genética , Doenças do Cabelo/genética , Doenças do Cabelo/patologia , Humanos , Masculino , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Mutação , Neurofibromina 1/genética , Proteínas de Fusão Oncogênica/genética , PTEN Fosfo-Hidrolase/genética , Doenças Raras/mortalidade , Doenças Raras/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/patologia , Proteína Supressora de Tumor p53/genética
13.
Hum Genet ; 139(6-7): 769-776, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32405658

RESUMO

Over the last decade next generation sequencing (NGS) has been extensively used to identify new pathogenic mutations and genes causing rare genetic diseases. The efficient analyses of NGS data is not trivial and requires a technically and biologically rigorous pipeline that addresses data quality control, accurate variant filtration to minimize false positives and false negatives, and prioritization of the remaining genes based on disease genomics and physiological knowledge. This review provides a pipeline including all these steps, describes popular software for each step of the analysis, and proposes a general framework for the identification of causal mutations and genes in individual patients of rare genetic diseases.


Assuntos
Biologia Computacional/métodos , Genes/genética , Doenças Genéticas Inatas/etiologia , Genoma Humano , Mutação , Medicina de Precisão , Doenças Raras/etiologia , Doenças Genéticas Inatas/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Doenças Raras/patologia , Software
14.
Rev. esp. patol. torac ; 32(2): 154-158, mayo 2020. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-193910

RESUMO

La proteinosis alveolar pulmonar es una enfermedad rara que se produce por un acúmulo anormal de lipoproteínas a nivel alveolar, siendo la broncoscopia una herramienta importante para su diagnóstico y tratamiento. Se presenta el caso de una mujer de 44 años, fumadora, con tos escasamente productiva blanquecina y disnea de tres meses de evolución, tratada de forma previa con antibioterapia por sospecha de neumonía adquirida en la comunidad, con escasa mejoría. La tomografía torácica mostró un patrón intersticial bilateral, compuesto por zonas en vidrio deslustrado, áreas geográficas y crazy paving. A nivel analítico, se observaron niveles aumentados de LDH e IgE junto a hipoxemia moderada, siendo la serología de VIH negativa. Las muestras de la broncoscopia fueron positivas para tinciones con ácido peryódico de Schiff, hallazgo compatible con el diagnóstico de proteinosis alveolar pulmonar. La paciente fue tratada con lavado broncoalveolar total, con buena respuesta y sin presentar recaídas hasta la fecha


Pulmonary alveolar proteinosis is a rare disease caused by an abnormal accumulation of lipoproteins at the alveolar level in which bronchoscopy is an important tool for diagnosis and treatment. We present the case of a 44-year-old woman, smoker, with a slightly productive cough producing milky sputum and dyspnea progressing over three months, previously treated with antibiotics for suspected community-acquired pneumonia with little improve-ment. The thoracic CT showed a bilateral interstitial pattern composed of areas of ground glass opacity, geographic areas and crazy paving. At the analytical level, increased levels of LDH and IgE along with moderate hypoxemia were observed, with negative HIV serology. Bronchoscopy samples were positive for Periodic Acid-Schiff staining, a finding compatible with the diagnosis of pulmonary alveolar proteinosis. The patient was treated with a full bronchoal-veolar lavage with a good response and she has not suffered a relapse to date


Assuntos
Humanos , Feminino , Adulto , Proteinose Alveolar Pulmonar/diagnóstico , Broncoscopia/métodos , Doenças Raras/diagnóstico por imagem , Proteinose Alveolar Pulmonar/patologia , Doenças Raras/patologia , Lavagem Broncoalveolar , Radiografia Torácica , Ceftriaxona/administração & dosagem , Levofloxacino/administração & dosagem , Prednisona/administração & dosagem , Tomografia Computadorizada por Raios X , Biópsia
15.
Oncology ; 98(8): 513-519, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32408297

RESUMO

Background and summary: Among all vulvar cancers, primary adenoid cystic carcinoma (ACC) of Bartholin's gland is a very rare tumor characterized by a slow growth, a high local aggressiveness, and a remarkable recurrence rate. Due to its rarity, treatment remains a challenge for oncologists and gynecological surgeons. Key message: The present paper reports clinical, radiological, and histological features of ACC of Bartholin's gland and reviews the literature data on the treatment options with a particular focus on the potential role of particle radiation therapy.


Assuntos
Glândulas Vestibulares Maiores/patologia , Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/radioterapia , Neoplasias Vulvares/patologia , Neoplasias Vulvares/radioterapia , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/tratamento farmacológico , Feminino , Radioterapia com Íons Pesados/métodos , Humanos , Recidiva Local de Neoplasia , Prognóstico , Doenças Raras/diagnóstico , Doenças Raras/patologia , Doenças Raras/radioterapia , Fatores de Risco , Neoplasias Vulvares/diagnóstico , Neoplasias Vulvares/tratamento farmacológico
16.
BMC Med Genet ; 21(1): 79, 2020 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-32295532

RESUMO

BACKGROUND: Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte disturbances. Homozygous variants in the nearby gene SLC26A4 disrupt anion exchange in the inner ear and the thyroid, causing Pendred syndrome (PDS; OMIM 274600), which is the most frequent form of syndromic deafness. CASE PRESENTATION: We report an unusual co-occurrence of two rare homozygous mutations in both the SLC26A3 and SLC26A4 genes, causing a rare combination of both CLD and PDS in two siblings. Although the clinical pictures were typical, the combined loss of these anion transporters might modulate the risk of renal injury associated with CLD. CONCLUSIONS: Familial presentation of two rare autosomal recessive disorders with loss of function of different SLC26 anion transporters is described. Independent homozygous variants in the SLC26A3 and SLC26A4 genes cause CLD and PDS in siblings, shedding light on co-occurrence of rare recessive traits in the progeny of consanguineous couples.


Assuntos
Antiportadores de Cloreto-Bicarbonato/genética , Diarreia/congênito , Bócio Nodular/genética , Perda Auditiva Neurossensorial/genética , Erros Inatos do Metabolismo/genética , Transportadores de Sulfato/genética , Diarreia/diagnóstico , Diarreia/genética , Diarreia/patologia , Feminino , Genes Recessivos/genética , Testes Genéticos , Bócio Nodular/diagnóstico , Bócio Nodular/patologia , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/patologia , Humanos , Lactente , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/patologia , Mutação , Linhagem , Gravidez , Doenças Raras/diagnóstico , Doenças Raras/genética , Doenças Raras/patologia , Irmãos
17.
Bull Cancer ; 107(3): 385-390, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32115180

RESUMO

The group of rare malignant ovarian tumors includes the group of germ cell tumors, sex cords stromal ovarian tumors, small cell carcinoma, malignant Brenner tumors, rare epithelial tumors such as mucinous carcinoma, clear cell carcinoma, or low-grade serous carcinoma, as well as ovarian carcinosarcoma. Together they comprise about 10% of all ovarian tumors. Due to their low prevalence and their heterogeneity, data and treatment recommendations are limited. Even though all ovarian tumors are staged according to the FIGO staging of epithelial ovarian tumors, treatment differs especially in germ cell tumors and sex cords stromal ovarian tumors. Non-epithelial ovarian tumors can arise from a variety of ovarian precursor cells such as germ cells, granulosa cells, theca cells, or stromal fibroblasts. As can be expected already due to their divergent precursor lesions, these malignancies are substantially different but united by their rarity. This overview article gives a comprehensive summary on the pathology and clinical presentation, as well as therapy recommendations of a selection of those rare ovarian tumors, based on the latest national guidelines and related important publications.


Assuntos
Neoplasias Ovarianas , Doenças Raras , Adenocarcinoma de Células Claras/patologia , Adenocarcinoma de Células Claras/terapia , Adenocarcinoma Mucinoso/patologia , Adenocarcinoma Mucinoso/terapia , Tumor de Brenner/patologia , Tumor de Brenner/terapia , Carcinoma de Células Pequenas/patologia , Carcinoma de Células Pequenas/terapia , Carcinossarcoma/patologia , Carcinossarcoma/terapia , Cistadenocarcinoma Seroso/patologia , Cistadenocarcinoma Seroso/terapia , Feminino , Humanos , Neoplasias Embrionárias de Células Germinativas/patologia , Neoplasias Embrionárias de Células Germinativas/terapia , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/terapia , Doenças Raras/patologia , Doenças Raras/terapia , Tumores do Estroma Gonadal e dos Cordões Sexuais/patologia , Tumores do Estroma Gonadal e dos Cordões Sexuais/terapia
18.
IEEE Pulse ; 11(1): 13-16, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32175846

RESUMO

The Process of rare disease identification by clinical geneticists is closely associated with the ability to correlate the phenotype of a patient with the relevant genetic syndromes. In order to perform this correlation, the phenotype has to be described in a canonical form or language. One such language is the human phenotype ontology, which defines the human phenotypes in a hierarchical form and facilitates the association between specific phenotypes and diseases. With such a structure, clinicians are able to evaluate the specific phenotypic features during the clinical evaluation process and then correlate those phenotypes to relevant diseases.


Assuntos
Inteligência Artificial , Genômica/métodos , Interpretação de Imagem Assistida por Computador/métodos , Doenças Raras , Face/diagnóstico por imagem , Face/patologia , Humanos , Medicina de Precisão , Doenças Raras/diagnóstico por imagem , Doenças Raras/genética , Doenças Raras/patologia , Síndrome
19.
Indian J Pathol Microbiol ; 63(Supplement): S47-S49, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32108627

RESUMO

Collagenofibrotic glomerulopathy (CFG) is a rare idiopathic kidney disease characterized by abnormal deposition of atypical Type III collagen fibers in the glomerulus causing subendothelial and mesangial expansion, manifesting as progressive renal dysfunction accompanied by proteinuria. The majority of CFG cases reported in literature are from Japan where this disease entity was initially recognized. There is an increased awareness and diagnosis of this rare renal disease in India with the recent increase in utilization of electron microscopy (EM) in clinical diagnostic settings. We describe a 28-year-old Bangladeshi woman who presented with hypertension and nephrotic range proteinuria not amenable to treatment with steroids and cyclophosphamide, whose renal biopsy demonstrated diagnostic ultrastructural features of CFG. This illustrative case is presented to highlight the role of EM analysis for diagnostic accuracy in renal biopsy evaluation in addition to demonstrating the unusual renal biopsy findings of this rare entity.


Assuntos
Colágeno Tipo III/análise , Glomerulonefrite/diagnóstico por imagem , Nefropatias/diagnóstico por imagem , Glomérulos Renais/patologia , Doenças Raras/diagnóstico por imagem , Adulto , Biópsia , Feminino , Fibrose , Humanos , Índia , Rim/patologia , Microscopia Eletrônica de Transmissão , Proteinúria/etiologia , Doenças Raras/patologia
20.
Medicina (Kaunas) ; 56(2)2020 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-32033289

RESUMO

Plasma cell features are encountered in a variety of non-plasma cell neoplasias, especially carcinomas of a discohesive type, such as those occurring in the digestive tract and breast. Lobular carcinomas of the breast present themselves in a variety of architectural patterns and many cell morphologies, including plasmacytoid types. A matching plasma cell phenotype is sometimes an associated feature. We report a case of a moderate grade invasive lobular carcinoma with focal plasmacytoid morphology and aberrant expression of plasma cell markers in a patient previously diagnosed with multiple myeloma. Paradoxical plasma cell immunoprofiles can be encountered in many malignancies, causing serious diagnostic problems, even more so with those occurring in discohesive carcinomas in multiple myeloma patients.


Assuntos
Neoplasias da Mama/patologia , Carcinoma Lobular/patologia , Mieloma Múltiplo/patologia , Plasmócitos/patologia , Doenças Raras/patologia , Tecido Adiposo/patologia , Idoso , Anticorpos Antineoplásicos , Neoplasias da Mama/imunologia , Carcinoma Lobular/imunologia , Feminino , Humanos , Cadeias kappa de Imunoglobulina/análise , Imuno-Histoquímica , Mieloma Múltiplo/imunologia , Inclusão em Parafina/métodos , Fenótipo , Plasmócitos/imunologia , Doenças Raras/imunologia , Sindecana-1/análise
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