RESUMO
Lymphoma after solid organ transplantation is one of the manifestations of post-transplant lymphoproliferative disorders(PTLD). Here we reported a 39-year-old male patient presented with intermittent fever, markedly elevated level of peripheral blood lymphocytes and lactate dehydrogenase(LDH), rapid decrease in hemoglobin and platelet count ten months after bilateral lung transplantation. After systematic evaluation, the patient excluded infectious diseases. Positron emission tomography-computed tomography (PET/CT) revealed diffuse increasing of standard uptake value in bones throughout the body. The bone marrow aspiration, flow cytometric analysis and histopathology confirmed the diagnosis of diffuse large B-cell lymphoma (DLBCL) with negative Epstein-Barr virus-encoded small RNA (EBER) hybridization in situ. Meanwhile, complicated hemophagocytic lymphohistiocytosis was also diagnosed in the patient based on hypertriglyceridemia, abnormally elevated level of serum ferritin and solvable CD25 (sCD25). Treatment regimen included reduction of immunosuppression, anti-CD20 antibody (CD20+ B cell inhibitor, rituximab) and etoposide. Repeated PET/CT and bone marrow biopsy showed complete remission of lymphoma after 4 months of therapy.
Assuntos
Infecções por Vírus Epstein-Barr , Transplante de Pulmão , Linfoma Difuso de Grandes Células B , Adulto , Infecções por Vírus Epstein-Barr/complicações , Herpesvirus Humano 4 , Humanos , Masculino , Tomografia por Emissão de Pósitrons combinada à Tomografia ComputadorizadaRESUMO
Objective: To investigate the clinicopathological features, differential diagnosis and molecular characteristics of clear cell renal cell carcinoma (ccRCC) with hemangioblastoma component (ccRCC-HBc). Methods: Two ccRCC-HBc cases diagnosed at Fujian Provincial Hospital in September 2015 and March 2016, respectively, were included. Their morphological, immunohistochemical and molecular features were analyzed, including fluorescence in situ hybridization (FISH) detection of TFE3, TFEB and VHL genes. Related literature was reviewed to reveal the characteristics of this tumor. Results: The two cases occurred in 2 women, aged 33 and 66 years, respectively. The maximum diameters of the tumors were 4.0 cm and 8.5 cm, respectively. Histologically, the ccRCC component, representing approximate 10%-20% of the neoplasm, while the tumor cells arranged in flaky, nested, and solid distribution. The tumor cells had conspicuous nucleoli, with rich thin-wall capillary network in the stroma. The hemangioblastoma-like component, representing approximate 60%-70% of the neoplasm, showed a rich capillary network of single-layered flat endothelial cells enclosing stromal cells. The latter cell type showed a pale or eosinophilic cytoplasm exhibiting occasional lipid droplets. Rare cell nuclei appeared enlarged, pleomorphic, or bizarre. The two components were intermingled with each other. Immunohistochemically, the tumor cells were positive for PAX8, CKpan, EMA, vimentin, CD10, RCC, CAâ ¨, and P504s in ccRCC area; in another area, the tumor cells were positive for α-inhibin, CD34 and vimentin, while CD10 were weakly positive. Neither TFE3 or TFEB gene split signal was detected in the 2 cases (0/2), nor was VHL gene mutation in case 2 (0/1). Conclusion: ccRCC-HBc is an extremely rare entity of ccRCC. The diagnosis is mainly based on clinical and pathological characteristics, as well as immunohistochemistry. Molecular pathology is helpful for its differential diagnosis. The primary approach of treating ccRCC-HBc is complete surgical excision and chemotherapy. The targeted treatment is helpful if possible.
Assuntos
Carcinoma de Células Renais , Hemangioblastoma , Neoplasias Renais , Adulto , Idoso , Biomarcadores Tumorais/genética , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/genética , Diagnóstico Diferencial , Células Endoteliais , Feminino , Hemangioblastoma/diagnóstico , Hemangioblastoma/genética , Hemangioblastoma/cirurgia , Humanos , Hibridização in Situ Fluorescente , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Pessoa de Meia-IdadeRESUMO
Objective: To observe the clinicopathological features of bronchiolar adenoma (BA) and mixed squamous cell and glandular papilloma (MSGP). The relationship between them was also analyzed. Methods: Clinical data of eight patients with BA and four patients with MSGP diagnosed in China-Japan Friendship Hospital were collected from January 2018 to January 2020. Hematoxylin-eosin staining and immunohistochemical staining (EnVision method) were used to compare their histopathological characteristics. The hotspots regions of cancer-associated driver genes in lung cancer, using real-time quantitative PCR, were detected in all the cases and the literatures were reviewed. Results: The clinical and imaging manifestations of BA and MSGP were analogous. Histologically they had a two-layer structure including bronchial or bronchiolar-type epithelium and a continuous layer of basal cells,similar to bronchial/bronchiole mucosae. P16 protein was highly expressed in 7/8 of BA and 1/4 of MSGP. Mutations of cancer-associated genes were detected in 4/8 of BA, but none in MSGP. Conclusions: BA and MSGP, derived from different parts of the respiratory tract in the lungs, are rare and benign. Their morphological features overlapped with each other, and some cases are accompanied by genetic changes. It is necessary to pay attention to the differential diagnosis between them and lung adenocarcinoma, especially during the intraoperative diagnosis; and be alert to the potentially malignant components in the tumor or combined cancers.
Assuntos
Adenoma , Neoplasias Pulmonares , Papiloma , Adenoma/genética , Bronquíolos , China , Células Epiteliais , Humanos , Neoplasias Pulmonares/genética , Papiloma/genéticaRESUMO
Objective: To investigate the clinicopathological features and prognostic factors of primary mediastinal large B-cell lymphoma (PMBL). Methods: The clinical data of 60 patients with PMBL including 44 biopsy cases and 16 consultation cases from September 2000 to November 2019 in the Department of Pathology, China-Japan Friendship Hospital (14 cases) and Peking Union Medical College Hospital (46 cases) were enrolled. Pathologic features, immunophenotype, immunoglobulin (Ig) gene rearrangement and microRNA expression profile were retrospectively studied. Results: Of the 60 patients, 23 were males and 37 were females, age ranged from 15 to 64 years (median 28 years). Immunohistochemical staining showed that the tumor cells were positive for pan-B cell antigens, CD30 (77.4%, 24/31), CD23 (73.1%, 19/26), MUM1 (45.8%, 11/24), Ki-67 index ≥70 % (90.6%, 29/32). EBER in situ hybridization was analyzed in 21 PMBL, only one case (4.8%) was positive. Ig gene rearrangement was performed in 20 cases, and seven were positive (35.0%). MicroRNA gene expression profiles were analyzed in seven cases of PMBL and nine cases of diffuse large B-cell lymphoma, and there were 33 microRNAs with significant difference (P<0.05). Univariate analysis indicated that the poor prognostic factors included serum lactate dehydrogenase (LDH) level,International Prognostic Index (IPI) score ≥3, stages â ¢-â £, chemotherapy not combined with rituximab and MUM1 positivity (P<0.05). Multivariate analysis showed that the treatment combined with rituximab was independently related to prognosis (P<0.05). Conclusions: PMBL is different from diffuse large B-cell lymphoma in clinicopathologic features, immunophenotypic presentation and molecular features. The prognostic factors, molecular genetics and immunological characteristics reveal that this study has enriched our understanding of the biology of PMBL, thus providing evidence and strategies for treatment.
Assuntos
Linfoma Difuso de Grandes Células B , Neoplasias do Mediastino , MicroRNAs , Adolescente , Adulto , Feminino , Humanos , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/genética , Masculino , Neoplasias do Mediastino/tratamento farmacológico , Neoplasias do Mediastino/genética , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Adulto JovemRESUMO
Objective: To investigate the clinicopathologic features, differential diagnosis, immunohistochemical profiles and molecular characteristics of primary extraskeletal osteosarcoma (ESOS). Methods: Ten cases of ESOS diagnosed and treated in Fujian Provincial Hospital, Fuzhou, China from January 2003 to January 2019 were collected and subjected to immunohistochemical staining and molecular analyses. The patients were followed up by telephone interview. Relative literature was also reviewed to assess the characteristics of this tumor. Results: The ten cases occurred in 3 women and 7 men, aged from 36 to 85 years (median, 60 years). The sizes of these tumors ranged from 5.5 to 17.5 cm (median, 11.0 cm). Histologically, at low magnification, the tumors were nodular, leafy and lobulated. They were composed of spindle cells, neoplastic osteoid cells, and cartilage tissues, with unequally-proportional mixture of these components. The three components intermingled with each other. Immunohistochemistry profiling showed that the tumor cells were positive for SATB2 (9/9), while α-SMA (4/10) and EMA (1/10) stains were focally positive. Ki-67 proliferation index was 10%â50%. Desmin, CD68, S-100 protein, SOX10, HMB45, CD117, DOG1, CD34, CKpan, GATA3 and PAX8 stains were negative. MDM2/CDK4 gene amplification signals were not detected in the 6 cases (0/6), which were subjected to the FISH. The SSX18 break-apart signal and the C-KIT and PDGFR-α mutations were not detected (0/5 and 0/3, respectively). Conclusions: Primary ESOS is an extra-osseous osteogenic tumor. The diagnosis is mainly dependent on clinical, radiological and pathological characteristics. Immunohistochemistry and molecular profiling are helpful for making the correct diagnosis.
Assuntos
Neoplasias Ósseas , Proteínas de Ligação à Região de Interação com a Matriz , Neoplasias de Tecido Conjuntivo e de Tecidos Moles , Osteossarcoma , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/genética , Neoplasias Ósseas/genética , China , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Fatores de TranscriçãoRESUMO
Objective: To describe the clinicopathological features of pulmonary artery intimal sarcoma (PAIS), and to understand its molecular alterations. Methods: Sixty cases of pulmonary artery endarterectomy performed at the China-Japan Friendship Hospital, Beijing, China from January 2017 to January 2020 were reviewed. Clinical data of 5 patients with pulmonary artery intimal sarcoma were collected. Hematoxylin-eosin staining, immunohistochemistry staining and fluorescence in situ hybridization (FISH) were performed to evaluate the pathological features. RNA sequencing was conducted to assess the fusion gene changes in PAIS. Results: The detection rate of PAIS was 8.3% (5/60), with the median age of 49 years and a female predominance. Their clinical manifestations were non-specific. Histopathological examination showed that the tumors were composed of malignant spindle or epithelioid cells, with various degrees of atypia. Focal heterologous osteosarcomatous or leiomyosarcomatous differentiation was noted. The tumor cells could express PDGFRA, CDK4 and MDM2 with co-amplification of MDM2, CDK4 and EGFR genes. RNA sequencing detected multiple in-frame fusions in the tumors. Conclusions: PAIS is a rare, highly heterogeneous, and poorly-or un-differentiated sarcoma accompanied by complex changes of multiple genes.It has no known effective treatments, and thus has a poor prognosis.
Assuntos
Sarcoma , Neoplasias Vasculares , Biomarcadores Tumorais , China , Feminino , Humanos , Hibridização in Situ Fluorescente , Pessoa de Meia-Idade , Artéria Pulmonar/cirurgia , Sarcoma/genética , Sarcoma/cirurgia , Neoplasias Vasculares/genética , Neoplasias Vasculares/cirurgiaRESUMO
Objective: To study the association between histopathological features and HER2 overexpression/amplification in breast cancers using deep learning algorithms. Methods: A total of 345 HE-stained slides of breast cancer from 2012 to 2018 were collected at the China-Japan Friendship Hospital, Beijing, China. All samples had accurate diagnosis results of HER2 which were classified into one of the 4 HER2 expression levels (0, 1+, 2+, 3+). After digitalization, 204 slides were used for weakly supervised model training, and 141 used for model testing. In the training process, the regions of interest were extracted through cancer detected model and then input to the weakly supervised classification model to tune the model parameters. In the testing phase, we compared performance of the single- and double-threshold strategies to assess the role of the double-threshold strategy in clinical practice. Results: Under the single-threshold strategy, the deep learning model had a sensitivity of 81.6% and a specificity of 42.1%, with the AUC of 0.67 [95% confidence intervals (0.560,0.778)]. Using the double-threshold strategy, the model achieved a sensitivity of 96.3% and a specificity of 89.5%. Conclusions: Using HE-stained histopathological slides alone, the deep learning technology could predict the HER2 status using breast cancer slides, with a satisfactory accuracy. Based on the double-threshold strategy, a large number of samples could be screened with high sensitivity and specificity.
Assuntos
Neoplasias da Mama , Aprendizado Profundo , Mama , Neoplasias da Mama/diagnóstico , China , HumanosRESUMO
Objective: To investigate the clinicopathologic features, diagnosis, differential diagnosis and molecular pathological characteristics of indeterminate dendritic cell tumor (IDCT). Methods: Four cases of IDCT were collected at Peking Union Medical College Hospital (3 cases) and Fujian Provincial Hospital (1 case). The 4 cases were analyzed, with focus on morphology, immunohistochemistry and BRAF V600E detection. Related literature was reviewed to reveal the characteristics of this tumor. Results: There were 2 males and 2 females aged 30-52 years (mean=40 years). Histopathological characteristics of the tumor cells were round, polygonal. The nuclei were round, with rich eosinophils cytoplasm. The tumor cells arranged in diffuse, sheet, whorl, and fascicle patterns. Mitosis was variable [generally(1-3)/10 HPF] and nucleoli were obvious. Lymphocytes, plasma cells and other infiltrates could be seen in the stroma. Immunohistochemically, tumor cells were positive for S-100 (4/4), CD1a (4/4), CD68 (4/4) and cyclin D1 (3/3), while CD207/Langerin, CKpan, CD21, HMB45, ALK and actin were negative. Ki-67 index was 5%-30%. Gene detection showed BRAF V600E mutations were not present in any of the four cases. Conclusions: IDCT is a rare type of dendritic cell tumor. There are no specific morphology characteristics. The diagnosis depends on clinical, histopathological and immunophenotype. Thus, electron microscopy and molecular testing are helpful if necessary.
Assuntos
Linfoma não Hodgkin , Adulto , Células Dendríticas , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Imunofenotipagem , Masculino , Pessoa de Meia-IdadeRESUMO
Objective: To describe the clinicopathological features of the lung cancers in the lungs explanted from lung transplant recipients, and to understand the molecular alterations of these cancers. Methods: The patients who underwent lung transplantation in China-Japan Friendship Hospital from March 2017 to December 2018 were reviewed. Clinical data of the patients with lung cancer associated with end-stage interstitial lung diseases (ILD) were collected. Hematoxylin-eosin staining and immunohistochemistry were performed to evaluate the pathological feature. Real-time quantitative PCR was performed to analyze the hotspots and targeted regions of 9 cancer-associated genes. Results: Among the 154 identified patients, 10 met the inclusion criteria and were included. The detection rate of lung cancer in the lung transplantation patients was 6.5%(10/154). All of the included 10 patients were male, with an average age of 59 years. They all had a history of heavy smoking. Three cases had a lung cancer diagnosed before operation, while the other 7 cases were concealed in the specimen of end-stage ILD. All of lung cancers were non-small-cell carcinoma, including 8 cases of adenocarcinoma and 2 cases of squamous cell carcinoma. The proportion of mucinous adenocarcinoma components was 3/10. The mutations in KRAS gene exon 2 were detected in two patients with mucous adenocarcinoma, while no alterations in NRAS, EGFR, ALK, ROS1, BRAF, HER2, PI3KCA and RET were detected in the remaining patients. Conclusions: Lung cancers are difficult to detect in patients with end-stage ILD. They are mainly adenocarcinomas and associated with a higher frequency of mutations in KRAS gene. These cancers have limited treatment options and a poor prognosis.
Assuntos
Neoplasias Pulmonares , China , Humanos , Neoplasias Pulmonares/cirurgia , Transplante de Pulmão , Masculino , Pessoa de Meia-Idade , Mutação , Proteínas Tirosina Quinases , Proteínas Proto-Oncogênicas , TransplantadosRESUMO
Objective: To investigate the clinical pathologic characteristics of extranodal follicular dendritic cell sarcoma (FDCS). Methods: We collected 7 cases of extranodal FDCS, HE staining, immunohistochemical study were performed. The V600E mutation of BRAF in 7 cases were detected by real-time PCR and EBER in situ hybridization was performed on 4 cases. Results: Among the 7 cases of FDCS, 5 cases were male and 2 cases were female, the median age was 55 years old, including 4 cases of low-grade FDCS and 3 cases of high-grade FDCS. The tumor location of 2 cases was in mediastinum, the tumor locations of others were in nasopharynx, kidney, lung, rectum and liver, respectively. The results of immunohistochemistry showed that, the tumor cells were diffusely or focally positive for CD21, CD23, CD35, D2-40, EGFR and CXCL13, but negative for S-100, CD68, HMB45, SMA, Desmin, CD117, Dog-1, CD34, CD30, EMA and CK.Five cases were positive for PD-L1 and the its expression in high-grade FDCS were higher than that in low-grade FDCS.Two cases of low-grade FDCS were positive for BRAF V600E, but the BRAF V600E mutation weren't detected in all of 7 cases. The result of EBER in-situ hybridization showed that only the nasopharynx FDCS was positive.The follow-up information of 5 patients were available (7~43 months), 4 patients died and 1 still alive with rectum metastasis. Conclusions: FDCS is a rare malignant disease with relapse and metastatic tendency. The combined applications of the first-line antibodies including CD21, CD23, CD35 and second-line antibodies including D2-40, CXCL13, EGFR are helpful for its diagnosis and differential diagnosis. The high expression of PD-L1 implicates the potential benefit of FDCS patients acquired from immunotherapy.
Assuntos
Sarcoma de Células Dendríticas Foliculares , Antígeno B7-H1/metabolismo , Biomarcadores Tumorais/metabolismo , Sarcoma de Células Dendríticas Foliculares/genética , Sarcoma de Células Dendríticas Foliculares/metabolismo , Sarcoma de Células Dendríticas Foliculares/mortalidade , Sarcoma de Células Dendríticas Foliculares/patologia , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Mutação , Recidiva Local de Neoplasia , Proteínas Proto-Oncogênicas B-raf/genéticaRESUMO
Objective: To investigate the clinicpathological and molecular features of Erdheim-Chester disease (ECD) as well langerhans cell histiocytosis (LCH). Methods: The clinical, histopathological, molecular findings, immunophenotype, treatment and prognosis in 4 cases of ECD combined LCH were evaluated from February 2015 to September 2018 with review of the relevant literature. Results: 2 cases were male, and 2 were female, aged from 7-55 years. Microscopically, there were two different areas, in the first area, the lesions were composed of foamy histiocytes, spindle-shaped fibroblasts, scattered multinucleated giant cells. Lymphocytes, plasma cells, and giant cells were also found. In the other, the lesions were composed of histiocytes with obvious nuclear groove, associated with a variable number of eosinophils, lymphocytes and plasma cells. Immunephenotype, In the second area, histiocytes were positive for CD1a (4/4), S-100 (4/4),CD207/Langerin (4/4), cyclin D1(4/4), and in the two different area, the histiocytes were positive for CD68, CD163, Braf. Ki-67 positive index 1%-10% BRAF V600E gene mutation was detected in three cases. Conclusion: ECD combined LCH was a very rare histiocytosis tumor and its correct diagnosis relies on histopathologic features, immunohistochemical staining, and BRAF V600E gene detection.
Assuntos
Doença de Erdheim-Chester/patologia , Histiocitose de Células de Langerhans/patologia , Adolescente , Adulto , Criança , Diagnóstico Diferencial , Feminino , Fibroblastos/patologia , Células Gigantes/patologia , Histiócitos/patologia , Humanos , Imunofenotipagem , Leucócitos/patologia , Masculino , Pessoa de Meia-IdadeRESUMO
Objective: To study common problems in BRAF gene mutation detection, and conditions for repetition testing using thyroid fine needle aspiration specimens. Methods: A total of 8 644 cases of thyroid fine-needle aspiration specimens at China-Japan Friendship Hospital were collected between February, 2012 and July, 2018. BRAF gene mutation was detected by real-time PCR. Repeat testing was performed in 237 cases when the results were inconsistent with clinical or cytological diagnosis or when uncertain results were obtained. Results: The final positive rates of BRAF mutation was 22.0% (1 897/8 625). Nineteen cases were excluded due to inadequate DNA samples. The average Ct value of internal quality control was 16.061, and the average Ct value of the positive samples was 19.147. Among 237 repeat tests, 51.4% (19/37) continued to have poor DNA quality and 48.6% (18/37) had adequate DNA resulting in 1 positive case and 17 negative cases. In 40 repetition of initial negative cases, results were unchanged. In initial positive cases, 40.4% (40/99) with a difference of Ct value (between BRAF gene and internal quality control) between 8 to 12 turned negative after repetition, 69.8% (37/53) of these cases with a difference of more than 12 turned negative after repetition. The sensitivity and specificity of BRAF mutation were 83.97% and 96.94%, respectively. Conclusions: Difference between BRAF gene Ct value and internal quality control Ct value is recommended as a reliability index for the test result. Cases with a difference greater than 8 should be subjected to repeat testing.
Assuntos
Proteínas Proto-Oncogênicas B-raf/genética , Nódulo da Glândula Tireoide/genética , Nódulo da Glândula Tireoide/patologia , Biópsia por Agulha Fina , China , Análise Mutacional de DNA , Humanos , Mutação , Proto-Oncogene Mas , Reação em Cadeia da Polimerase em Tempo Real , Reprodutibilidade dos TestesRESUMO
Objective: To study the clinicopathological characteristics and immunohistochemical phenotype of phosphaturic mesenchymal tumor (PMT) . Methods: The clinicopathological data and immunohistochemical profiles were obtained retrospectively from 206 patients diagnosed with PMT at Peking Union Medical College Hospital (PUMCH) during July 2008 to September 2017, with a review of literature. Results: The mean age of PMT patients was 42 years (range 13 to 70 years), with a male to female ratio of 1.1â¶1.0. All patients presented with different degree of bone pain, muscle weakness, shorten of stature, thoracic deformity and pathological fractures, with hypophosphatemia and high serum ALP. Phosphatemia returned to normal within 1 week after operation in all cases underwent complete tumor resection. The duration of osteomalacia before resection (documented in 197 cases) ranged from 20 days to 40 years (average 5.7 years). The average blood phosphorus concentration raised from 0.49 mmol/L to 0.92 mmol/L before and after tumor resection (P<0.01), with 147 cases (84.0%, 147/175) returned to normal range within 2 weeks. The rate or blood phosphorus concentration recovery in 15 days after operation was 79.6% in average, displayed significant differences between patients with complete resection and those with partial resection (85.4% vs. 21.1%, P<0.01). PMT lesions mainly involved lower extremities (55.8%), followed by head and neck (29.1%). In immunohistochemical study, all cases were positive for vimentin (100.0%), while most cases were positive for NSE (96.3%), CD56 (94.2%), FGF23(88.4%), CD68 (88.3%), D2-40 (70.9%), CD34 (23.1%), SMA (55.5%), bcl-2 (59.8%) and CD99 (47.1%). The Ki-67 positive index of tumor varied from less than 2% (51.4%), 3% to 10% (41.3%) to >10% (7.2%). Conclusions: PMT mainly occurs in lower limbs or head and neck, with unique clinical characteristics and blood biochemical indexes. The tumor expresses a variety of immunohistochemical markers, indicating the potential of multi-directional differentiation. Clinical profile, blood biochemistry testing and immunohistochemical phenotype is helpful for diagnosis of PMT.
Assuntos
Mesenquimoma/sangue , Mesenquimoma/cirurgia , Fósforo/sangue , Neoplasias de Tecidos Moles/sangue , Neoplasias de Tecidos Moles/cirurgia , Adolescente , Adulto , Idoso , Biomarcadores/sangue , Feminino , Fator de Crescimento de Fibroblastos 23 , Fatores de Crescimento de Fibroblastos , Humanos , Hipofosfatemia/etiologia , Masculino , Mesenquimoma/complicações , Mesenquimoma/patologia , Pessoa de Meia-Idade , Neoplasias de Tecido Conjuntivo , Osteomalacia/etiologia , Fenótipo , Estudos Retrospectivos , Neoplasias de Tecidos Moles/complicações , Neoplasias de Tecidos Moles/patologia , Adulto JovemRESUMO
Objective: To explore the clinical manifestations, pathological features, differential diagnosis and gene mutation status in patients with pulmonary involvement of Erdheim-Chester disease (ECD). Methods: The clinical data of 4 cases of Erdheim-Chester disease admitted to Peking Union Medical College Hospital from October 2014 to August 2016 were examined for imaging, microscopic and immunohistochemitry findings, and BRAFV600E mutation. The related literatures were reviewed. Results: Among the 4 cases, there were 3 males and 1 female, aging from 7 to 47 years, and the average age was 34.5 years. They complained of chest tightness, shortness of breath and bone pain. They all had multiple bone lesions, involving the long bones, skulls and vertebrae, and imaging showed increased bone uptake and bone sclerosis. CT scan showed pleural thickening or pleural effusion(4/4), widened lobular septa(3/4), bronchial vascular bundle thickening(3/4), multiple patchy ground glass and solid shadows(4/4), and cystic shadows(1/4). Multiple bone lesions were the main extrapulmonary manifestations. All the cases had multiple bone lesions, involving the long bones, skulls and vertebrae, and showed increased bone uptake and bone sclerosis. Surgical biopsy of the thoracic tissue was performed in all 4 cases (pleural in 1 case, lung in 2, anterior mediastinal mass in 1). Microscopically, the lesion was composed of spindle-shaped fibroblasts and foamy histiocytes enmeshed in reactive fibrous tissue. Lymphocytes and plasma cells were also found. Immunohistochemically, all the histiocytes were positive for CD(68), and none of them expressed CD1a. All cases were detected by real-time quantitative PCR for BRAFV600E gene mutation. Conclusions: The pulmonary involvement of Erdheim-Chester disease is rare, with clinical manifestations of chest tightness, shortness of breath, and some have no obvious respiratory symptoms. Pulmonary involvement in Erdheim-Chester disease has important manifestations, in which foam-like tissue cells with diffuse distribution along the lymphatic enmeshed in reactive fibrous tissue. It should be differentiated from diffuse interstitial lung diseases and metastatic tumors. The clinical features are often manifested as pleural thickening and pleural effusion, with multiple bone sclerosis lesions.BRAFV600E mutation detection is helpful for the diagnosis.
Assuntos
Doença de Erdheim-Chester , Pulmão , Pleura/diagnóstico por imagem , Adolescente , Adulto , Biópsia , Criança , Doença de Erdheim-Chester/patologia , Feminino , Humanos , Pulmão/diagnóstico por imagem , Pulmão/patologia , Doenças Pulmonares Intersticiais , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
Chronic diarrhea is a common complaint in gastroentology department, which is classified into a variety of types. While as eosinophilic gastroenteritis is a rare cause. A 50-year-old male patient was admitted with a 2-year history of diarrhea worsened for 10 months. Fasting could alleviate the diarrhea. Laboratory findings demonstrated anemia, low vitamins and minerals, fat malabsorption and abnormal D-xylose absorption test, delayed gastric emptying. According to the endoscopic biopsy of gastrointestinal mucosa, the diagnosis of eosinophilic gastroenteritis was made. Diabetic neuropathy may aggravate the symptom. The diarrhea resolved after the administration of steroids.
Assuntos
Diabetes Mellitus , Diarreia , Enterite/diagnóstico por imagem , Enterite/patologia , Eosinofilia/diagnóstico por imagem , Eosinofilia/patologia , Gastrite/diagnóstico por imagem , Gastrite/patologia , Gastroenterite/diagnóstico por imagem , Gastroenterite/patologia , Redução de Peso , Biópsia , Diarreia/diagnóstico , Diarreia/tratamento farmacológico , Endoscopia , Endoscopia do Sistema Digestório , Gastroenterite/terapia , Humanos , Masculino , GastropatiasRESUMO
OBJECTIVE: To investigate the bowel symptoms and psychological status of patients with irritable bowel syndrome (IBS) with diarrhea (IBS-D), and to verify whether sigmoid colon mucosal mast cells (MCs) and their activation have effect on the symptoms and psychological status of IBS-D patients. METHODS: Patients meeting Rome â ¢ diagnostic and subtyping criteria of IBS-D who visited the outpatient clinic of gastroenterology of Peking Union Medical College Hospital were consecutively enrolled between July 2009 and June 2012. IBS symptoms questionnaire was completed using face-to-face interview, and Hamilton Anxiety Scale (HAMA)/ Hamilton Depression Scale (HAMD) were administrated to evaluate psychological status, both by well-trained investigators. Mast cell tryptase monoclonal antibody was used for immunohistochemical staining to detect MCs and degranulated MCs in mucosal biopsy of sigmoid colon. MCs and degranulated MCs were blindly counted by a senior pathologist, and presented as number of cells in high power field (HPF) and percentage of activated MCs. Correlation analysis was performed using Spearman rank correlation analysis. RESULTS: Ninety-seven patients with IBS-D were enrolled in this study, with mean age of (44±11) years. 70.10%(68 cases) of the IBS-D patients had comorbid anxiety and/or depression. The median total numbers of MCs, activated MCs, and percentage of activated MCs in sigmoid mucosa were 11.60 (7.09)/HPF, 2.00 (1.40) /HPF, and 17.50% (10.90%), respectively. Patients having abdominal pain/discomfort before bowel movement "every day with intermediate to high severity" had significantly larger numbers of total MCs in sigmoid colon compared with those with pain or discomfort "not every day and mild" [13.80(4.85)vs 7.60(5.90)/HPF, P=0.019]; the patient having "frequent" urge to have a bowel movement and mushy stools showed significantly higher percentage of activated MCs in sigmoid colon mucosa compared to those having the symptoms "some of the time" [18.75%(9.12%) vs 14.50%(13.14%), P=0.031; 21.33%(7.43%)vs 11.51%(10.65%)vs 18.42%(8.61%), P=0.030]. There was a positive correlation between the bowel movement during IBS-D onset and the percentage of activated MCs (r=0.221, P=0.030). There were no statistically significant differences in the total number of MCs and percentage of activated MCs between the patients with anxiety/depression and those without anxiety/depression (P=0.255, P=0.315). Scores of HAMA and HAMD were found not correlated with either total MCs number or percentage of activated MCs in sigmoid colon mucosa(all P>0.05). CONCLUSIONS: The majority of IBS-D patients had comorbid anxiety and/or depression. The total number and activation status of MCs in sigmoid colon mucosa might be related with some intestinal symptoms in IBS-D patients. Psychological disorders might influence the pathogenesis and regression of IBS-D through brain-gut axis other than MCs in sigmoid colon mucosa.