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1.
Virchows Arch ; 479(4): 747-754, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33650044

RESUMO

Sclerosing angiomatoid nodular transformation (SANT) is a rare vascular lesion of the spleen. Although several hypotheses have been suggested, the etiopathogenesis of SANT remains unknown. It is also unclear whether SANT is a reactive or a neoplastic lesion. Since CTNNB1 (ß-catenin gene) exon 3 mutations were frequently detected in some rare fibrovascular lesions, we aimed to investigate the presence of oncogenic CTNNB1 mutations in SANT cases. For this purpose, 7 cases of SANT with typical histopathological features were retrieved. First, the presence of CTNNB1 exon 3 alterations was examined with a recently described immunohistochemistry-based method. Then, the findings were confirmed with polymerase chain reaction (PCR), reverse transcription PCR (RT-PCR), and Sanger sequencing. In all cases, immunochemistry of ß-catenin gave a staining pattern that was suggestive of exon 3 alteration; however, no missense mutations were found in any case at the CTNNB1 exon 3 hotspot region. Subsequently, we screened for large interstitial deletions of CTNNB1 exon 3 which revealed short PCR products in three cases. Sequencing confirmed that these cases had large interstitial deletions, resulting in loss of the entire exon 3 of CTNNB1. In the remaining four cases, loss of exon 3 was documented at the cDNA level, although genomic deletion was not identified. These results demonstrate that loss of CTNNB1 exon 3 and stabilization of ß-catenin with activation of Wnt signaling pathway might have a significant role in the pathogenesis of SANT. Through this study, we provided important evidence for the neoplastic nature and pathogenesis of this disorder.


Assuntos
Histiocitoma Fibroso Benigno/patologia , Baço/patologia , beta Catenina/genética , Adulto , Idoso , Éxons/genética , Feminino , Histiocitoma Fibroso Benigno/genética , Humanos , Imuno-Histoquímica/métodos , Masculino , Pessoa de Meia-Idade , Oncogenes , Estudos Retrospectivos , Soluções Esclerosantes , Neoplasias Esplênicas/patologia , Via de Sinalização Wnt , beta Catenina/metabolismo , beta Catenina/fisiologia
2.
Diagn Cytopathol ; 49(1): E36-E39, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32749779

RESUMO

Angiomatoid fibrous histiocytoma (AFH) is an unusual superficially located tumor primarily affecting children and young adults. It grows slowly and most often occurs on the extremities. There is a paucity of literature on the cytological findings of AFH owing to the rarity of the lesion and its superficial location which makes it easier to perform the biopsy. Here, we present a case of AFH in a 7-year-old girl who presented with a left upper arm swelling. The cytology of this tumor along with histopathologic correlation and review of literature is discussed.


Assuntos
Histiocitoma Fibroso Maligno/diagnóstico , Histiocitoma Fibroso Maligno/patologia , Biópsia/métodos , Criança , Feminino , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/patologia , Humanos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia
3.
J Cutan Pathol ; 48(2): 217-220, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32767564

RESUMO

BACKGROUND: Dermatofibroma (DF) is a common benign skin neoplasm. Induction above DF lesions, including follicular unit induction, is a frequently observed phenomenon. Wnt signaling is known to be critical in hair follicle morphogenesis. Our study assesses the role of Wnt signaling in DF induction by evaluating intracellular localization of ß-catenin in various types of DF induction. METHODS: Archived tissue collected between 1 October 1980 and 1 October 2013 was stained per protocol using hematoxylin and eosin and anti-ß-catenin monoclonal antibody. Specimens were grouped into categories based on the presence or absence and type of induction. All specimens were scored for nuclear ß-catenin localization. RESULTS: Of 62 specimens, 42 (68%) showed induction while 20 (32%) showed none. Nuclear ß-catenin staining was detected in 23 (55%) of the induction and in none of the no-induction specimens (P-value < 0.001). Types of induction included: 15 (24%) follicular induction, 31 (50%) acanthosis, and 4 (6%) sebaceous induction. For follicular induction, 13 (87%) showed positive nuclear ß-catenin staining compared to 11 (35%) for acanthosis and 1 (25%) for sebaceous induction (P-value = 0.002). CONCLUSION: Our findings support the hypothesis that DFs promote an ectopic activation of Wnt pathway signaling in follicular induction phenomenon.


Assuntos
Histiocitoma Fibroso Benigno , Proteínas de Neoplasias/metabolismo , Neoplasias Cutâneas , Via de Sinalização Wnt , beta Catenina/metabolismo , Feminino , Histiocitoma Fibroso Benigno/metabolismo , Histiocitoma Fibroso Benigno/patologia , Humanos , Masculino , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia
4.
Thorac Cancer ; 12(3): 314-323, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33314685

RESUMO

BACKGROUND: The aim of this study was to highlight the clinicopathological features of pulmonary primary angiomatoid fibrous histiocytoma (PPAFH) to assist with a differential diagnosis. METHODS: There were 10 previous reports in the literature and four new PPAFH cases reviewed in this study. Immunohistochemistry (IHC), fluorescence in situ hybridization (FISH) and DNA and RNA-based next-generation sequencing (NGS) was performed in the four new cases reported here. RESULTS: In the four new PPAFH cases, the ages of occurrence were in patients age from 33 to 55 years and tumor sizes were from 1.5 to 8 cm. Three of four (75.0%) tumors were located in the endobronchus. The most common morphological changes included delineated fibrous capsule (100%, 4/4), lymphoplasmacytic cuff (100%, 4/4), and dense or richly lymphoplasmatic infiltration (100%, 4/4). IHC analysis revealed that the tumor cells of four cases expressed vimentin and TLE1, ALK and CD163 or CD68 was positive in three cases, epithelial membrane antigen (EMA), desmin was positive in two cases, and SMA focal positive expression was observed in two cases. EWSR1 gene rearrangement was positive in all PPAFH cases (100%, 4/4) by FISH detections and four cases were confirmed as EWSR1-CREB1 fusion variant by DNA and RNA based NGS. No regional lymph nodes and distal metastasis, recurrences and death of disease after surgical excision were recorded in all four cases. CONCLUSIONS: PPAFH is a very unusual pulmonary primary mesenchymal tumor and the clinicopathological features are like other unusual sites counterparts, but with a smaller tumor size, related with large airway, with a tendency to exhibit benign biological behavior, with EWSR1 gene rearrangement and higher frequency of EWSR1-CREB1 gene fusion. KEY POINTS: Significant findings in the study: In comparison with "classic somatic" and nonpulmonary visceral angiomatoid fibrous histiocytoma, pulmonary primary angiomatoid fibrous histiocytoma display distinct clinicopathological features and prognosis. What this study adds The study provided the pathological differential diagnostic criteria and clinico-pathological features for pulmonary primary angiomatoid fibrous histiocytoma.


Assuntos
Histiocitoma Fibroso Benigno/diagnóstico , Adulto , Feminino , Histiocitoma Fibroso Benigno/patologia , Humanos , Masculino , Pessoa de Meia-Idade
5.
Tokai J Exp Clin Med ; 45(4): 236-242, 2020 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-33300596

RESUMO

BACKGROUND: Sclerosing angiomatoid nodular transformation (SANT) of the spleen is a non-tumorous benign lesion that originates in the spleen and It is rare. CASE PRESENTATION: A 59-year-old man visited his physician for a checkup. Ultrasonography showed a mass in the spleen, and the patient was referred to our hospital. He tested negative for tumor markers and soluble interleukin-2 receptor (sIL-2R). Abdominal computed tomography revealed a 51-mm hypovascular mass that was slowly enhanced from the portal venous to the equilibrium phases, at the inferior extremity of the spleen. Abdominal magnetic resonance imaging showed a spoke-wheel pattern. Fluorodeoxyglucose positron emission tomography indicated a mild tumor accumulation, with a standardized uptake value max of 5.3. These results led to the suspicion of SANT, angioma, and angiosarcoma. Because the onset of malignant diseases could not be excluded, laparoscopic splenectomy was performed. A brown, round mass, without a capsule but with clear boundaries, was macroscopically observed on the cut surface. In addition, white fibrosis was found in the mass. Histopathological examination revealed nodular angioma lesions, and the proliferation of fibrotic interstices and inflammatory cells was observed between the lesions. Immunohistological examination revealed proliferation in the 3 types of narrow capillaries inside angiomatoid nodules;CD31+/CD34+/CD8-, CD31+/CD34-/CD8+, and CD31+/CD34-/CD8- cells; therefore, the patient was diagnosed with SANT. CONCLUSIONS: Here, we reported one patient who developed the typical symptoms of SANT. SANT is easily diagnosed by histopathological examination; however, its causes remain unknown. More cases with SANT are required for further analysis.


Assuntos
Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/patologia , Baço/diagnóstico por imagem , Baço/patologia , Neoplasias Esplênicas/diagnóstico , Neoplasias Esplênicas/patologia , Antígenos CD/metabolismo , Biomarcadores/metabolismo , Diagnóstico Diferencial , Diagnóstico por Imagem , Histiocitoma Fibroso Benigno/cirurgia , Humanos , Laparoscopia , Masculino , Pessoa de Meia-Idade , Doenças Raras , Baço/cirurgia , Esplenectomia , Neoplasias Esplênicas/cirurgia , Resultado do Tratamento
7.
Medicine (Baltimore) ; 99(44): e22941, 2020 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-33126361

RESUMO

INTRODUCTION: Ocular benign fibrous histiocytoma can involve corneoscleral limbus and adjacent cornea and usually has a good prognosis after surgical removal. Despite the low recurrence rate, we reported a rare case of ocular benign fibrous histiocytoma with twice recurrences after excision. PATIENT CONCERNS: A 12-year-old Chinese girl presented with two painless progressively enlarging masses in the right eye for 6 years. She once had the lesions excised 1 year ago. However, the primary lesions relapsed again. DIAGNOSIS: Histopathologic and immunohistochemical examinations of the excised samples supported the diagnosis of benign fibrous histiocytomas of the corneoscleral limbus. INTERVENTIONS: The patient underwent mass resection with limbal stem cell transplantation and amniotic membrane transplantation at first. As for the tumors' second recurrence, we performed extended excision combined with lamellar keratoplasty and amniotic membrane implantation. OUTCOMES: The corneal graft remained clear with no sign of tumor recurrence 3 years after the second surgery. CONCLUSION: Complete surgical resection with tumor-free margins is critical to reduce the recurrence of benign fibrous histiocytoma and appropriate ocular surface reconstruction is necessary to remedy tissue defect and maintain epithelial integrity.


Assuntos
Neoplasias Oculares/cirurgia , Histiocitoma Fibroso Benigno/cirurgia , Recidiva Local de Neoplasia/cirurgia , Criança , Neoplasias da Túnica Conjuntiva/diagnóstico por imagem , Neoplasias da Túnica Conjuntiva/patologia , Neoplasias da Túnica Conjuntiva/cirurgia , Córnea/diagnóstico por imagem , Córnea/patologia , Neoplasias Oculares/diagnóstico por imagem , Neoplasias Oculares/patologia , Feminino , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Histiocitoma Fibroso Benigno/patologia , Humanos , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/patologia , Tomografia de Coerência Óptica
10.
Vet Pathol ; 57(5): 599-607, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32783525

RESUMO

Canine cutaneous histiocytoma (CCH) is a noninfectious tumor that spontaneously regresses. It is suggested that this regression is due to tumor cell maturation, which is responsible for CD8 lymphocyte activation and tumor cell destruction. Nevertheless, the possible role of the immune microenvironment in tumor regression has not been investigated to date. The aim of this study was to investigate the expression of CD208 and FoxP3 as markers of dendritic cells and regulatory T lymphocytes, respectively, and tumor cell expression of CD206 as a marker of Langerhans cell activation, and relate these parameters to the different phases of CCH and to intratumoral T cell infiltration. Formalin-fixed, paraffin-embedded samples from 31 CCH were evaluated. In each case, the mitotic count and regression phase were recorded. Within the tumor, a quantitative evaluation of immunolabeled CD208+ cells, FoxP3+ cells, and CD3+ lymphocytes was performed, as well as the CD206+ tumor cell location. Intratumoral CD208+ cells correlated with CD3+ lymphocytic infiltration. The possible role of dendritic cells in tumor regression was not confirmed since CD208 seemed to be a nonspecific marker for canine dendritic cells. FoxP3+ lymphocyte density was not correlated with any parameter. Neoplastic Langerhans cells presented progressive CD206 expression, from the bottom of the tumor to the epidermis, which correlated with the tumor regression phase and with intratumoral T lymphocyte infiltration. In conclusion, we confirmed a CD206 phenotype change in tumor cells in a spatial group-related pattern, supporting the hypothesis that tumoral Langerhans cells acquire a mature phenotype with tumor regression.


Assuntos
Biomarcadores/metabolismo , Doenças do Cão/patologia , Histiocitoma Fibroso Benigno/veterinária , Neoplasias Cutâneas/veterinária , Animais , Cães , Fatores de Transcrição Forkhead/metabolismo , Histiocitoma Fibroso Benigno/patologia , Imuno-Histoquímica/veterinária , Células de Langerhans/patologia , Lectinas Tipo C/metabolismo , Linfócitos do Interstício Tumoral/patologia , Proteína 3 de Membrana Associada ao Lisossomo/metabolismo , Lectinas de Ligação a Manose/metabolismo , Fenótipo , Receptores de Superfície Celular/metabolismo , Pele/patologia , Neoplasias Cutâneas/patologia , Linfócitos T Reguladores/patologia
13.
J Cutan Pathol ; 47(10): 913-916, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32412128

RESUMO

BACKGROUND: Cellular dermatofibromas (CDFs) and dermatofibrosarcoma protuberans (DFSP) can be challenging to differentiate from one another. Morphologically, both entities commonly extend into the subcutis, exhibit high cellularity with limited cytologic atypia and have a mixed fascicular-to-storiform growth pattern. We sought to evaluate the significance of fat necrosis with an associated lymphocytic infiltrate as a histopathologic clue for distinguishing CDFs from DFSP. METHODS: We identified cases in our pathology database with a primary diagnosis of CDF or DFSP. Punch or excisional biopsy specimens with extension into the subcutis were selected. Previously biopsied lesions and specimens that did not interact with the subcutis were excluded. Histopathologic features were evaluated in hematoxylin and eosin stained sections. RESULTS: Fat necrosis with lymphocytic infiltrate was present in 20/20 cases of CDF. None of the 20 DFSP cases had fat necrosis with lymphocytic infiltrate although 4/20 had fat necrosis alone. CONCLUSIONS: Fat necrosis with associated lymphocytic response can aid in the distinction between CDF and DFSP.


Assuntos
Dermatofibrossarcoma/diagnóstico , Necrose Gordurosa/patologia , Histiocitoma Fibroso Benigno/diagnóstico , Linfócitos/patologia , Neoplasias Cutâneas/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia/métodos , Criança , Bases de Dados Factuais , Dermatofibrossarcoma/metabolismo , Dermatofibrossarcoma/patologia , Diagnóstico Diferencial , Feminino , Histiocitoma Fibroso Benigno/metabolismo , Histiocitoma Fibroso Benigno/patologia , Histologia Comparada/métodos , Humanos , Imuno-Histoquímica/métodos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
14.
Am J Dermatopathol ; 42(11): 861-864, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32379091

RESUMO

Epithelioid fibrous histiocytoma (EFH) is a rare, benign, cutaneous neoplasm. This fibrohistiocytic tumor was once believed to be a variant of fibrous histiocytoma, but EFH is now known to be a distinct entity based on the presence of ALK gene rearrangements in most cases. The pattern of immunohistochemical expression of ALK in EFH in the literature thus far describes both granular cytoplasmic staining and nuclear staining. We present a case of EFH with dot-like Golgi pattern perinuclear ALK expression, a previously undescribed staining pattern. We surmised this unique staining pattern could be due to a novel fusion partner, and using FISH, we confirmed a rearrangement of the ALK (2p23) locus. Further investigation with whole transcriptome sequencing led to the discovery of PRKAR2A-ALK fusion, and the function of this fusion partner reflects a Golgi-predominant localization of the protein. Attention to the distinct immunohistochemical pattern of ALK expression may provide clues to the function of the fusion partner.


Assuntos
Quinase do Linfoma Anaplásico/genética , Subunidade RIIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , Histiocitoma Fibroso Benigno/genética , Neoplasias Cutâneas/genética , Adulto , Células Epitelioides/patologia , Feminino , Histiocitoma Fibroso Benigno/patologia , Humanos , Fusão Oncogênica , Proteínas de Fusão Oncogênica/genética , Neoplasias Cutâneas/patologia
15.
Hum Pathol ; 99: 107-115, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32246988

RESUMO

Fibrous histiocytoma (FH) or dermatofibroma is a common cutaneous lesion mostly seen in adults and rare in the first two years of life. Two hundred sixty-seven patients younger than 18 years with a diagnosis of FH or dermatomyofibroma, a lesion with morphologic overlap with FH, were identified from the files of a single institution, with only 13 (4.8%) occurring in patients younger than 5 years. Ten patients had either underlying neurologic, autoimmune, or metabolic disorders or a family history of autoimmune conditions. Histologic review of hematoxylin and eosin staining and immunostaining on 75 FHs and dermatomyofibroma in 70 patients showed the following results: 33 classic FHs, 8 classic FHs characterized by a peculiar retiform morphology with thin fascicles of elongated cells forming a network reminiscent of the eruptive variant of FH, 19 deep/cellular variants, 5 aneurysmal variants, 3 lipidized variants (including two lesions in a patient affected by mucopolysaccharidosis IV), 3 dermatomyofibromas, and 4 isolated cases of hemosiderotic, granular cell atypical, and epithelioid FH. Immunostaining for factor XIIIa highlighted a dense network of dendritic cells in FH, which was significantly reduced in the FH with retiform morphology. Smooth muscle actin staining was positive in a high percentage of FHs (85.3%). The current series demonstrates that FH in children may show unique clinical and morphologic features. The retiform pattern with decreased dendritic cells found in congenital lesions and in two older patients with lesions in two locations might have a different pathogenesis, probably related to an altered immune response in very young patients.


Assuntos
Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Maligno/patologia , Neoplasias Cutâneas/patologia , Fatores Etários , Biomarcadores Tumorais/análise , Biópsia , Criança , Pré-Escolar , Feminino , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/imunologia , Histiocitoma Fibroso Maligno/química , Histiocitoma Fibroso Maligno/imunologia , Humanos , Imuno-Histoquímica , Lactente , Masculino , Prognóstico , Neoplasias Cutâneas/química , Neoplasias Cutâneas/imunologia
16.
Diagn Interv Radiol ; 26(3): 168-175, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32229432

RESUMO

Hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC) are the most common primary liver malignancies. HCC and ICC have characteristic imaging findings, but a number of benign entities can appear similar and can cause diagnostic dilemma. Ideally, accurate and timely diagnosis of these conditions can help the patient to avoid a needle biopsy or even unnecessary treatment. In this article, we present various benign liver lesions that display imaging characteristics that are similar to HCC and ICC on magnetic resonance imaging (MRI) and discuss salient features that may assist in accurate diagnosis.


Assuntos
Adenoma de Células Hepáticas/diagnóstico por imagem , Carcinoma Hepatocelular/diagnóstico por imagem , Colangiocarcinoma/diagnóstico por imagem , Neoplasias Hepáticas/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Adenoma de Ducto Biliar/diagnóstico por imagem , Adenoma de Ducto Biliar/patologia , Adenoma de Células Hepáticas/patologia , Adulto , Idoso , Angiomiolipoma/diagnóstico por imagem , Angiomiolipoma/patologia , Neoplasias dos Ductos Biliares/patologia , Meios de Contraste , Cistos/diagnóstico por imagem , Cistos/patologia , Diagnóstico Diferencial , Feminino , Granuloma de Células Plasmáticas/diagnóstico por imagem , Granuloma de Células Plasmáticas/patologia , Hemangioma/diagnóstico por imagem , Hemangioma/patologia , Histiocitoma Fibroso Benigno/diagnóstico por imagem , Histiocitoma Fibroso Benigno/patologia , Humanos , Abscesso Hepático/diagnóstico por imagem , Neoplasias Hepáticas/patologia , Masculino , Pessoa de Meia-Idade , Derivação Portossistêmica Cirúrgica/estatística & dados numéricos , Esplenose/diagnóstico por imagem , Esplenose/patologia
20.
Acta Histochem ; 122(2): 151498, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31889532

RESUMO

Dermatofibroma (BFH), atypical fibroxanthoma (AFX) and dermal pleomorphic sarcoma (DPS) are skin-based soft-tissue neoplasms of uncertain lineage. They are classified as "fibrohistiocytic" neoplasms, even if the World Health Organization stated that this term connotes a polymorphic group of lesions that histologically resemble fibroblasts and histiocytes. It is well-known that this group of lesions shows a "fibro-histiocytic-dendritic" and/or a "myofibroblastic" phenotype, even within the same lesion. We studied the expression of cathepsin-k in 34 cases (25 BFH, 5 AFX, 4 DPS) with a broad panel of antibodies. 20 cases (5 dermatofibrosarcoma protuberans, 5 melanomas, 5 basal cell carcinomas, 5 squamous cell carcinomas) were chosen as controls. Although our results need to be validated, they support a myofibroblastic and/or partial myofibroblastic ("proto-myofibroblastic") phenotype and the lineage-plasticity of these neoplasms, highlighting the potential role of cathepsin-k in myofibroblastic trans-differentiation. Cathepsin-k proved to be an additional immunoistochemical marker potentially useful in the diagnostic algorithm.


Assuntos
Carcinoma de Células Escamosas/patologia , Histiocitoma Fibroso Benigno/patologia , Melanoma/patologia , Sarcoma/patologia , Neoplasias Cutâneas/patologia , Biomarcadores Tumorais/análise , Carcinoma de Células Escamosas/diagnóstico , Diagnóstico Diferencial , Feminino , Histiocitoma Fibroso Benigno/diagnóstico , Humanos , Masculino , Melanoma/diagnóstico , Proteínas de Neoplasias/análise , Proteínas de Neoplasias/metabolismo , Sarcoma/diagnóstico , Pele/patologia , Neoplasias Cutâneas/diagnóstico
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