Case reports in clinical pathology最新文献_第2页

Urinary bladder paraganglioma metastatic to the lung in a patient with SDHB gene mutation: A case report SDHB基因突变患者膀胱副神经节瘤转移至肺部1例

Case reports in clinical pathology Pub Date : 2021-04-29 DOI: 10.5430/CRCP.V8N1P5

C. Onyenekwu, K. Iczkowski, Y. Sheinin

{"title":"Urinary bladder paraganglioma metastatic to the lung in a patient with SDHB gene mutation: A case report","authors":"C. Onyenekwu, K. Iczkowski, Y. Sheinin","doi":"10.5430/CRCP.V8N1P5","DOIUrl":"https://doi.org/10.5430/CRCP.V8N1P5","url":null,"abstract":"Introduction: Paragangliomas represent tumors originating from the neural crest. Most of them are benign and arise from various locations in the body. Extra-adrenal paragangliomas develop as sporadic cases in most settings or as part of hereditary familial syndromes in about one-quarter of all cases, whereby succinate dehydrogenase subunit B (SDHB) gene mutations are associated with an aggressive clinical disease course of pheochromocytomas/paragangliomas. Methods: We present a 41-year-old male former smoker with a history of a growing right upper lung nodule on chest imaging. He had no cough or respiratory symptoms. Twenty-seven months prior, the patient underwent a cystoprostatectomy due to paraganglioma of the bladder. Genetic testing identified a pathogenic mutation in SDHB gene, c.166_170delCCTCA (p.Pro56Tyrfs*5). He underwent a wedge resection of the lung nodule. Results: Sectioning of the lung wedge revealed a well-circumscribed, firm tan nodule. Microscopically there were nests of large neoplastic cells with round nuclei and eosinophilic granular cytoplasm. Tumor cells were positive for synaptophysin and chromogranin and negative for pan-cytokeratin. S-100 protein highlighted sustentacular cells. Morphologically, the pulmonary neoplasm was similar to the primary tumor of the bladder. These features are consistent with a bladder paraganglioma metastatic to the lung, in a background of a hereditary paraganglioma syndrome. Conclusion: Extra-adrenal paraganglioma occurring in a setting of hereditary paraganglioma syndrome has a high risk of metastasis. Lifelong surveillance even after prompt resection of the primary tumor with negative margins is required to ensure early detection of metastasis and prevent complications associated with it.","PeriodicalId":90463,"journal":{"name":"Case reports in clinical pathology","volume":"8 1","pages":"5"},"PeriodicalIF":0.0,"publicationDate":"2021-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43504776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Testicular Lymphoma manifesting as neurological symptoms due to secondary neurolymphomatosis: A case report 继发性神经淋巴瘤引起的睾丸淋巴瘤表现为神经系统症状：一例报告

Case reports in clinical pathology Pub Date : 2021-01-27 DOI: 10.5430/CRCP.V8N1P1

Nicholas Haslett, Adam Ulano, J. DeWitt

引用次数: 0

Malignant granular cell tumor of the ulnar nerve: A case report of long-term follow-up and literature review 尺神经恶性颗粒细胞瘤1例长期随访及文献复习

Case reports in clinical pathology Pub Date : 2021-01-01 DOI: 10.5430/crcp.v8n1p27

Sei Morinaga, N. Yamamoto, Katsuhiro Hayashi, A. Takeuchi, S. Miwa, K. Igarashi, H. Yonezawa, Y. Asano, S. Saito, T. Nojima, H. Tsuchiya

{"title":"Malignant granular cell tumor of the ulnar nerve: A case report of long-term follow-up and literature review","authors":"Sei Morinaga, N. Yamamoto, Katsuhiro Hayashi, A. Takeuchi, S. Miwa, K. Igarashi, H. Yonezawa, Y. Asano, S. Saito, T. Nojima, H. Tsuchiya","doi":"10.5430/crcp.v8n1p27","DOIUrl":"https://doi.org/10.5430/crcp.v8n1p27","url":null,"abstract":"Background: The incidence of malignant granular cell tumor, an extremely rare Schwann cell-derived tumor with a poor prognosis, is reported to be approximately 0.2% of malignant soft tissue tumors. We report a case of a malignant granular cell tumor originating from the ulnar nerve.Case presentation: A 71-year-old woman presented with a mass in her right forearm. Magnetic resonance imaging showed a tumor with homogenous intensity of T1 and heterogeneous hyperintensity of T2, continuous with the ulnar nerve. Incisional biopsy revealed a malignant granular cell tumor, and marginal excision of the tumor was performed. Histologically, the tumor size was 9.2 cm and consisted of eosinophilic, granular polygonal to round and spindle-shaped cells, with vesicular and prominent nucleoli, and increased mitosis. Immunohistochemically, the tumor cells were positive for S-100 protein, CD68, H3K27me3, TFE3, and SOX10 and negative for smooth muscle alpha-actin, desmin, cytokeratin AE1/3, epithelial membrane antigen, and synaptophysin. The Ki-67 positivity rate was 12%. These findings were consistent with those of malignant granular cell tumors. In addition, no metastasis or recurrence was observed 15 years after the excision.Conclusion: Surgical resection is the standard treatment option. In our case, the diagnostic criteria for malignant granular cell tumors were histologically met. Patients with malignant granular cell tumors have a poor prognosis. However, no metastasis or recurrence was observed in this case 15 years after the surgery.","PeriodicalId":90463,"journal":{"name":"Case reports in clinical pathology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71211017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Breast tall cell carcinoma with reversed polarity with an unusual molecular profile 极性相反的乳腺高细胞癌具有不寻常的分子特征

Case reports in clinical pathology Pub Date : 2020-12-26 DOI: 10.5430/crcp.v7n1p46

K. Nielson, E. Fischer, J. Nemunaitis, Sangeetha Prabhakaran, Nadja K. Falk

{"title":"Breast tall cell carcinoma with reversed polarity with an unusual molecular profile","authors":"K. Nielson, E. Fischer, J. Nemunaitis, Sangeetha Prabhakaran, Nadja K. Falk","doi":"10.5430/crcp.v7n1p46","DOIUrl":"https://doi.org/10.5430/crcp.v7n1p46","url":null,"abstract":"Breast tall cell carcinoma with reversed polarity (TCCRP) is rare and previously referred to as solid papillary carcinoma with reverse polarity. This low grade tumor commonly exhibits IDH2 p.Arg172 mutation, however is not completely understood at the molecular level. We present a case of TCCRP in a 55 year old woman with a 0.7 cm left breast mass. A core biopsy was performed with immunohistochemistry. Lumpectomy and sentinel lymph node biopsy were completed two months later. MammaPrint$^{textregistered}$ and BluePrint$^{textregistered}$ gene expression profilers were performed on an excision block. Microscopically, the tumor was composed of circumscribed nests of columnar cells, with focal papillary architecture. Tumor cells had apically located nuclei with grooves and rare inclusions. Tumor cells were positive for CK5, IDH1/2, and calretinin, and myoepithelial cells were absent. BluePrint$^{textregistered}$ subtyped the tumor as basaloid. MammaPrint$^{textregistered}$ classified the tumor as high risk for metastasis. TCCRP presents a diagnostic challenge. Although these rare breast carcinomas are generally reported to have an indolent clinical course, molecular analysis by gene expression profiling classified this tumor as high risk of recurrence with a basaloid type. Therefore, molecular analysis of this tumor may lead to conflicting data regarding prognosis and treatment considerations. Clinicians and patients should weigh published data and individual prognostic information for treatment planning. Our patient and clinical team opted for radiation without chemotherapy. More cases of TCCRP need to be studied to better understand its molecular profile.","PeriodicalId":90463,"journal":{"name":"Case reports in clinical pathology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45047779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hepatic carcinosarcoma with rhabdomyosarcoma: A case report and review of literature 肝癌肉瘤合并横纹肌肉瘤1例报告及文献复习

Case reports in clinical pathology Pub Date : 2020-12-26 DOI: 10.5430/crcp.v7n1p40

G. Liang, Guangning Yan, Xuwen Lai, Huang-Jen Lai, Y. Qian, Zhuocai Wang

{"title":"Hepatic carcinosarcoma with rhabdomyosarcoma: A case report and review of literature","authors":"G. Liang, Guangning Yan, Xuwen Lai, Huang-Jen Lai, Y. Qian, Zhuocai Wang","doi":"10.5430/crcp.v7n1p40","DOIUrl":"https://doi.org/10.5430/crcp.v7n1p40","url":null,"abstract":"Objective To analyze the clinical and pathological manifestations of a hepatic carcinosarcoma case with rhabdomyosarcoma components (HCSR). Methods A case of HCSR was observed by macroscopy, microscopy, immunohistochemistry and electron microscopy, along with thorough review of correlated literatures. Results The tumor tends to occur in elder patients without differences on gender. Epigarstric sicknesses, AFP rising in serum, and a mass on the right liver shown in radiography are commonly initial signs. It was composed of both hepatic carcinoma and variously differentiated sarcoma components, with identifiable rhabdomyosarcoma. Immunohistochemistry showed that the hepatic carcinosarcoma was positive of epithelial markers and mesenchymatous component was diffuse positive of Vimentin, and mosaic positive of SDHB, CD117, while rhabdomyosarcoma was positive of muscular markers. Transmission electron microscopy showed the tumor had both epithelial and rhabdomyosarcoma ultra-microstructure. Conclusion HCSR is a very rare type and highly malignant tumor with a dismal prognosis, hardly demonstrating unique clinical manifestations. Diagnosis and differential diagnosis rely on combination of histomorphology, immunohistochemistry and ultra-microstructure observation.","PeriodicalId":90463,"journal":{"name":"Case reports in clinical pathology","volume":"7 1","pages":"40"},"PeriodicalIF":0.0,"publicationDate":"2020-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45205592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multiple pilomatricomas: Recurrent skin nodules in myotonic dystrophy 多发性毛母细胞瘤：强直性肌营养不良的复发性皮肤结节

Case reports in clinical pathology Pub Date : 2020-10-25 DOI: 10.5430/crcp.v7n1p34

Renee K Eng, Ahmed Shehabeldin, M. Ketcham, Parul T. Shah, S. Mullick, J. Ro

引用次数: 0

Gastric epithelioid gastrointestinal stromal tumor with signet ring-like cell features: A case report 胃上皮样胃肠道间质瘤伴印戒样细胞1例

Case reports in clinical pathology Pub Date : 2020-10-25 DOI: 10.5430/crcp.v7n1p30

María Cecilia Vivar, Evelyn Carolina Polanco Jacome, A. Robin

引用次数: 0

Hypercalcemia with invasive pulmonary papillomatosis and microinvasive squamous carcinoma 高钙血症伴侵袭性肺乳头状瘤病和微侵袭性鳞状细胞癌

Case reports in clinical pathology Pub Date : 2020-09-21 DOI: 10.5430/CRCP.V7N1P25

Estelle Oertling, P. Daroca, R. Hartz, S. Mclellan, J. Lane

{"title":"Hypercalcemia with invasive pulmonary papillomatosis and microinvasive squamous carcinoma","authors":"Estelle Oertling, P. Daroca, R. Hartz, S. Mclellan, J. Lane","doi":"10.5430/CRCP.V7N1P25","DOIUrl":"https://doi.org/10.5430/CRCP.V7N1P25","url":null,"abstract":"Juvenile respiratory papillomatosis is a rare pediatric disease in which benign papillomata develop in the respiratory tract, most commonly involving the larynx and tracheobronchial tree. Invasive pulmonary papillomatosis is an aggressive form in which the papillomata extend into the lung parenchyma. We report a case of a 22-year-old man with a long-standing juvenile respiratory tract papillomatosis, initially diagnosed at age 2, who subsequently developed invasive pulmonary papillomatosis and underwent partial surgical resection for his pulmonary disease. Hypercalcemia complicated the patient’s final hospitalizations. HPV typing performed on a laryngeal papilloma was positive for HPV 6/11. The lobectomy specimen revealed malignant transformation of invasive pulmonary papillomatosis characterized by the presence of microinvasive nests of squamous carcinoma. Immunohistochemical stain for parathyroid hormone on the invasive component was negative. Eventually, the patient succumbed to his disease and while the family refused post-mortem examination, Positron Emission Tomography (PET) performed during the patient’s terminal course suggested the possibility of metastasis to liver and periaortic lymph nodes. There was no evidence of bony metastasis.","PeriodicalId":90463,"journal":{"name":"Case reports in clinical pathology","volume":"7 1","pages":"25"},"PeriodicalIF":0.0,"publicationDate":"2020-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43853787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Erdheim chester disease: A case report and review of the literature Erdheim-chester病一例报告及文献复习

Case reports in clinical pathology Pub Date : 2020-09-20 DOI: 10.5430/crcp.v7n1p22

R. Elia, A. Adnan, Akiki Béatrice, W. Hani, Zeidan Marwan, Makarem Jawad, A. Georges

引用次数: 0

An incidental finding of uterine adenolipoleiomyoma in an endometrial polyp: A case report 子宫内膜息肉中偶然发现子宫腺脂瘤:1例报告

Case reports in clinical pathology Pub Date : 2020-08-26 DOI: 10.5430/crcp.v7n1p19

E. Gordon, Evelyn Carolina Polanco Jacome

引用次数: 0