Human Pathology Reports最新文献_第10页

EBV positive lymphoma with ambiguous lineage: A diagnostic challenge 谱系不明确的EBV阳性淋巴瘤:一个诊断挑战

Human Pathology Reports Pub Date : 2022-09-01 DOI: 10.1016/j.hpr.2022.300675

Ali Ismail, Samer Al-Quran, Mustafa Al-Kawaaz

{"title":"EBV positive lymphoma with ambiguous lineage: A diagnostic challenge","authors":"Ali Ismail, Samer Al-Quran, Mustafa Al-Kawaaz","doi":"10.1016/j.hpr.2022.300675","DOIUrl":"10.1016/j.hpr.2022.300675","url":null,"abstract":"<div><p>We describe a case of EBV-positive lymphoma with characterization of histological, immunophenotypic, and molecular features and a brief literature review of similar entities. Atypical large lymphoid cells with pleomorphic nuclei, moderate eosinophilic cytoplasm, and high mitotic activity were noted along with positivity for CD20, OCT2, CD79a, CD19, CD2, perforin, CD30, MUM1, c-MYC, BCL-2, and CD45. Dim positivity with PAX5 and weak cytoplasmic staining with CD3 was noted. These cells were negative for CD4, CD5, CD7, CD8, CD10, BCL-6, CD15, EMA, HHV-8, TdT, Cyclin-D1 and Granzyme B. EBV encoded RNA in situ hybridization was diffusely positive in atypical cells. Both T and B cell gene rearrangements were detected which demonstrates lineage overlap in EBV-positive large cell lymphomas, supported by B and <em>T</em>-cell receptor gamma gene rearrangement proven on molecular studies. The presence of similar entities may lead to potential misclassification of neoplasms. No prognostic significance of this finding was identified.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"29 ","pages":"Article 300675"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X22000871/pdfft?md5=2e48b0d2416aea2781fb7a0de49ba849&pid=1-s2.0-S2772736X22000871-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74420711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Alveolar soft part sarcoma of the pectoralis mimicking a breast mass: A case report 模仿乳房肿块的胸肌肺泡软组织肉瘤1例

Human Pathology Reports Pub Date : 2022-09-01 DOI: 10.1016/j.hpr.2022.300674

Kevin L. Lu , Ryan Sieberg , Rita I. Freimanis , Heather I. Greenwood , Christopher J. Schwartz

引用次数: 0

Discordant EGFR mutation results: A case report 不一致的EGFR突变结果:1例报告

Human Pathology Reports Pub Date : 2022-09-01 DOI: 10.1016/j.hpr.2022.300665

Ullas Batra , Shrinidhi Nathany , Mansi Sharma , Surender Dhanda , Joslia T. Jose , Anurag Mehta

{"title":"Discordant EGFR mutation results: A case report","authors":"Ullas Batra , Shrinidhi Nathany , Mansi Sharma , Surender Dhanda , Joslia T. Jose , Anurag Mehta","doi":"10.1016/j.hpr.2022.300665","DOIUrl":"10.1016/j.hpr.2022.300665","url":null,"abstract":"<div><h3>Background</h3><p>Epidermal growth factor receptor (EGFR) is one of the driver mutations in advanced Non – Small Cell Lung Carcinoma (NSCLC) and is prominently chosen to advocate personalized treatment approaches. The advancing field of molecular pathology along with the introduction of the EGFR TKIs has profoundly changed the therapeutic landscape of the NSCLC. But therapeutic decision might be challenging when different testing methods yield non-identical results.</p></div><div><h3>Method</h3><p>A patient diagnosed with lung carcinoma negative for ALK and ROS1 rearrangements was subjected to EGFR testing by Therascreen, plasma based genotyping by Roche cobas V2 and bioRAD droplet digital PCR. Taking into consideration the variant results, both Therascreen and Roche cobas V2 testing was again performed on fresh biopsies.</p></div><div><h3>Result</h3><p>Single gene testing of EGFR by Therascreen was negative. Plasma based genotyping for EGFR mutations using the Roche cobas V2, yielding a del19 mutant whereas, bioRAD droplet digital PCR revealed del19 wild type along with small clone of T790M. The Therascreen assay was negative, whereas the Roche cobas V2 yielded a positive del19 mutant. The T790M clone was not detected by cobas neither in plasma nor in tissue.</p></div><div><h3>Conclusion</h3><p>In view of the absence of T790M mutant, the patient was planned first line therapy of Osimertinib. The choice of testing modality decides the suitable therapy for the patient to a great extent. Although tissue genotyping is still the gold standard, using liquid biopsy genotyping in addition to tissue genotyping improves the discovery of sensitizing mutations in targetable genes, ultimately leading to better patient outcomes.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"29 ","pages":"Article 300665"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X22000779/pdfft?md5=ae0d0c2df3e7c2ca9040e408337ff3e4&pid=1-s2.0-S2772736X22000779-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88035517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Perivascular epithelioid cell tumor in the mediastinum: Metastasis or multiple primaries? 纵隔血管周围上皮样细胞瘤:转移还是多发原发?

Human Pathology Reports Pub Date : 2022-09-01 DOI: 10.1016/j.hpr.2022.300658

Jacob C. Kinskey , Mary R. Schwartz , Charles C. Guo , Jae Y. Ro

{"title":"Perivascular epithelioid cell tumor in the mediastinum: Metastasis or multiple primaries?","authors":"Jacob C. Kinskey , Mary R. Schwartz , Charles C. Guo , Jae Y. Ro","doi":"10.1016/j.hpr.2022.300658","DOIUrl":"https://doi.org/10.1016/j.hpr.2022.300658","url":null,"abstract":"<div><p>We report a 38-year-old female with a history of primary pelvic PEComa and subsequent metastatic PEComa to the mediastinum who presented with recurrent mediastinal metastasis in April 2021. At initial presentation in 2010, the patient reported a three-month history of abdominal pain, hot flashes, night sweats, and a one-day history of bloating. Surgery revealed an 18-cm multilobulated pelvic mass involving the posterior uterus, bladder, and bilateral adnexa. Histology showed spindled and epithelioid tumor cells immunopositive for HMB-45, desmin, TFE3, SMA, caldesmon, Melan-A and calretinin. Cytokeratin, S-100, inhibin, myogenin, and OCT3/4 immunostains were negative. In 2013 the patient re-presented with chest pain. Imaging confirmed a mediastinal mass involving the pericardium with histology resembling the previous pelvic mass. Following initial resection and mTOR therapy, the mediastinal mass recurred once in 2015 with similar histologic findings. This case provides the first description of a malignant pelvic PEComa metastasizing to the mediastinum, and demonstrates the challenges associated with diagnosing metastatic PEComa. Though malignant PEComa with metastasis to the mediastinum is rare, it is important to recognize the natural process of this tumor to ensure adequate follow-up and patient care.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"29 ","pages":"Article 300658"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X22000706/pdfft?md5=287a42628e2f2200f55f617423d83fcb&pid=1-s2.0-S2772736X22000706-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"137159173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Nephropathic cystinosis in a kidney transplant recipient: A mesenteric lymph node demonstrates positive birefringent crystals 肾移植受者肾病性胱氨酸病:肠系膜淋巴结显示阳性双折射晶体

Human Pathology Reports Pub Date : 2022-09-01 DOI: 10.1016/j.hpr.2022.300661

Trevor F. Killeen , Sarah L. Elfering , Samy M. Riad , Michael A. Linden , Ethan Y. Leng , Raja Kandaswamy , Sarah J. Kizilbash , Blanche M. Chavers , James V. Harmon

{"title":"Nephropathic cystinosis in a kidney transplant recipient: A mesenteric lymph node demonstrates positive birefringent crystals","authors":"Trevor F. Killeen , Sarah L. Elfering , Samy M. Riad , Michael A. Linden , Ethan Y. Leng , Raja Kandaswamy , Sarah J. Kizilbash , Blanche M. Chavers , James V. Harmon","doi":"10.1016/j.hpr.2022.300661","DOIUrl":"10.1016/j.hpr.2022.300661","url":null,"abstract":"<div><p>We report a kidney transplant recipient in their early twenties with infantile nephropathic cystinosis and EBV viremia who presented with right flank pain, night sweats, and right lower quadrant abdominal tenderness. A CT scan of the abdomen demonstrated mesenteric adenopathy. A laparoscopic mesenteric lymph node biopsy was performed with a concern for post-transplant lymphoproliferative disorder (PTLD). Positive birefringent crystals were identified within the tissue macrophages of benign reactive lymph nodes. Immunohistochemical staining and flow cytometry confirmed polyclonal B-cells without evidence of a clonal B-cell population supportive of PTLD. We report intracellular birefringent crystals within lymph nodes in a patient with infantile cystinosis. We review the clinical history of the patient and the pathologic analysis to evaluate for possible PTLD.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"29 ","pages":"Article 300661"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X22000731/pdfft?md5=188a83704904b6cf930f2051dfc45413&pid=1-s2.0-S2772736X22000731-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75111992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Extranodal follicular dendritic cell sarcoma intimately associated with the pancreas 结外滤泡树突状细胞肉瘤与胰腺密切相关

Human Pathology Reports Pub Date : 2022-09-01 DOI: 10.1016/j.hpr.2022.300663

Justin T. Kelley , Daniel A. Arber , Scott R. Owens , Laura W. Lamps

{"title":"Extranodal follicular dendritic cell sarcoma intimately associated with the pancreas","authors":"Justin T. Kelley , Daniel A. Arber , Scott R. Owens , Laura W. Lamps","doi":"10.1016/j.hpr.2022.300663","DOIUrl":"10.1016/j.hpr.2022.300663","url":null,"abstract":"<div><p>Follicular dendritic cell sarcomas (FDCS) are rare tumors derived from non-migrating antigen-presenting cells. They are distinguished from other histiocytic and dendritic cells by their immunophenotype, which supports a mesenchymal, non-myeloid stem cell origin. A 63-year-old woman reported painless epigastric fullness for 20 years, and was eventually found to have a 16.0 cm mass indistinguishable from the pancreas and surrounding tissue. Initial needle biopsy showed a high-grade epithelioid malignant neoplasm. A Whipple resection was ultimately performed, and evaluation revealed a malignant epithelioid neoplasm with histologic and immunophenotypic features of FDCS. FDCS is a rare tumor that can involve virtually any nodal or extranodal site, and to our knowledge this is the first reported case of FDCS of the pancreas. This case report emphasizes that FDCS should be considered in the differential diagnosis of pancreatic neoplasms with focal cytokeratin positivity, so that appropriate IHC testing with FDC-associated markers can be used to confirm the diagnosis.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"29 ","pages":"Article 300663"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X22000755/pdfft?md5=a94c24db7633fcf46163e45e9836919b&pid=1-s2.0-S2772736X22000755-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80713797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Non-esophageal eosinophilic gastrointestinal disorders 非食道嗜酸性胃肠道疾病

Human Pathology Reports Pub Date : 2022-09-01 DOI: 10.1016/j.hpr.2022.300655

Xiuxu Chen, Xianzhong Ding, H. Ko

引用次数: 0

Extra-ovarian cellular fibroma: A case report and review of the literature 卵巢外细胞纤维瘤1例报告及文献复习

Human Pathology Reports Pub Date : 2022-09-01 DOI: 10.1016/j.hpr.2022.300668

Bomi Kim

{"title":"Extra-ovarian cellular fibroma: A case report and review of the literature","authors":"Bomi Kim","doi":"10.1016/j.hpr.2022.300668","DOIUrl":"10.1016/j.hpr.2022.300668","url":null,"abstract":"<div><p>Extra-ovarian sex cord-stromal tumors are often clinically and radiologically considered as ovarian malignancies. Pathologically, this poses a diagnostic challenge. Here, we present a case of extra-ovarian cellular fibroma in an eighty-four-year-old woman. The pedunculated solid mass was located in the posterior cul-de-sac, and intraoperative frozen section diagnosis was leiomyoma or fibroma. Both ovaries and salpinges were normal. A laparoscopy-assisted mass excision and bilateral salpingo-oophorectomy were performed. Microscopically, cellularity showed increased alternative pattern, mild cytological atypia, and the mitotic count was 2/10 high-power fields. Tumor cells were immunoreactive to antibodies produced against Wilms tumor-1 and progesterone receptors. The cells were weakly positive for inhibin-alpha and smooth muscle actin. The pathological diagnosis was an extra-ovarian cellular fibroma. We summarized the cases of extra-ovarian pure stromal tumors reported to date and compared them with our case. Immunohistochemical studies are essential because the pathological differential diagnosis of extra-ovarian fibromas includes extra-gastrointestinal stromal tumors and leiomyomas. Cellular fibromas should be carefully diagnosed due to their tendency to recur.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"29 ","pages":"Article 300668"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X22000809/pdfft?md5=16eb3fe66d609ffbf610c0654474ae41&pid=1-s2.0-S2772736X22000809-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90977830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Histopathological and molecular findings in a patient with Ras-associated autoimmune leukoproliferative disorder 1例ras相关自身免疫性白细胞增殖性疾病的组织病理学和分子病理学研究

Human Pathology Reports Pub Date : 2022-09-01 DOI: 10.1016/j.hpr.2022.300670

Wei Xie, Guang Fan, Joanna Wiszniewska, Richard D. Press, Fei Yang

{"title":"Histopathological and molecular findings in a patient with Ras-associated autoimmune leukoproliferative disorder","authors":"Wei Xie, Guang Fan, Joanna Wiszniewska, Richard D. Press, Fei Yang","doi":"10.1016/j.hpr.2022.300670","DOIUrl":"10.1016/j.hpr.2022.300670","url":null,"abstract":"<div><p>Ras-associated autoimmune leukoproliferative disorder (RALD) is a nonmalignant lymphoproliferative disease associated with somatic <em>RAS</em> mutations. It is characterized by autoimmune disease, lymphadenopathy, splenomegaly and monocytosis. Less than 30 cases of RALD have been reported in the literature. We report a 20-year-old female patient who presented with lymphadenopathy, splenomegaly and autoimmune cytopenia, without increased double-negative <em>T</em>-cells. We describe the histopathological features seen in this patient’s lymph node and bone marrow. The lymph node showed paracortical expansion by histiocytes and <em>T</em>-cells, with reactive follicular hyperplasia and progressive transformation of germinal centers. The bone marrow demonstrated hypercellular marrow with increased histocytes, <em>T</em>-cells, plasma cells, and mild diffuse fibrosis. The 220-gene Next Generation Sequencing (NGS) identified a somatic <em>KRAS</em> gene mutation (KRAS p.A146P) with a 34% of variant allele frequency (VAF), which is not codon 12 or 13 of the <em>KRAS</em> gene frequently described in RALD patients. A diagnosis of RALD was proposed. The diagnosis of RALD requires the integration of multifaceted methods including clinical information, laboratory tests, histology, and molecular tests. The histological and molecular conformation we provide in this case report is a valuable addition to understanding the spectrum of RALD presentation.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"29 ","pages":"Article 300670"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X22000822/pdfft?md5=a0c8d1dcdb922d0139a44833b33b185f&pid=1-s2.0-S2772736X22000822-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80959294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A case of hepatic small vessel neoplasm without previously reported hotspot mutation of alpha subfamily of G proteins 肝小血管肿瘤1例，先前未报道G蛋白α亚家族热点突变

Human Pathology Reports Pub Date : 2022-09-01 DOI: 10.1016/j.hpr.2022.300660

Minako Yamamura , Yasunori Sato , Kenta Takahashi , Hiep Nguyen Canh , Zihan Li , Kazuyoshi Hosomichi , Atsushi Tajima , Takuro Terada , Yasuni Nakanuma , Kenichi Harada

{"title":"A case of hepatic small vessel neoplasm without previously reported hotspot mutation of alpha subfamily of G proteins","authors":"Minako Yamamura , Yasunori Sato , Kenta Takahashi , Hiep Nguyen Canh , Zihan Li , Kazuyoshi Hosomichi , Atsushi Tajima , Takuro Terada , Yasuni Nakanuma , Kenichi Harada","doi":"10.1016/j.hpr.2022.300660","DOIUrl":"10.1016/j.hpr.2022.300660","url":null,"abstract":"<div><p>Hepatic small vessel neoplasm (HSVN) is a very rare and recently described entity. Moreover, it is a vascular neoplasm of the liver composed of small vessels with infiltrative borders that mimic hepatic angiosarcoma. Based on its lack of atypical morphological features and high proliferative activity, HSVN is thought to be a benign or low-grade neoplasm; however, there is a lack of follow-up information. Here, we present a 51 year-old man with an incidental segment VIII lesion of the liver that displayed plethoric features, which was suspected to be a neoplasm. The patient underwent a segment anterior sectionectomy. The resected liver tumor demonstrated a 2.0 cm by 1.2 cm tan red and partially ill-defined mass, and microscopical examination confirmed HSVN, although the previously identified mutations in HSVN, <em>GNAQ</em>, <em>GNA11</em>, <em>GNA14</em>, and <em>PIK3CA</em> were not detected by genetic testing. The patient’s postoperative recovery was uncomplicated, and abdominal computed tomography at 6 months and 12 months post-surgery revealed no evidence of recurrence. HSVN is a recently described vascular tumor liver with uncertain malignant potential. More research is warranted to establish guidelines for an accurate diagnosis and to elucidate the clinical course of these tumors.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"29 ","pages":"Article 300660"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X2200072X/pdfft?md5=019d3bc64c67fbffd8afb106318477b6&pid=1-s2.0-S2772736X2200072X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90939203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0