Human Pathology: Case Reports最新文献

筛选
英文 中文
Anaplastic thyroid carcinoma presenting as laryngotracheal invasive squamous cell carcinoma: A report of two cases and review of the literature 表现为喉气管浸润性鳞状细胞癌的间变性甲状腺癌:附2例报告并文献复习
Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200505
Daniel Manzoor, Bonnie L. Balzer, Matthew Gayhart, Eric Vail, Alberto M. Marchevsky, Reza Setoodeh
{"title":"Anaplastic thyroid carcinoma presenting as laryngotracheal invasive squamous cell carcinoma: A report of two cases and review of the literature","authors":"Daniel Manzoor,&nbsp;Bonnie L. Balzer,&nbsp;Matthew Gayhart,&nbsp;Eric Vail,&nbsp;Alberto M. Marchevsky,&nbsp;Reza Setoodeh","doi":"10.1016/j.ehpc.2021.200505","DOIUrl":"10.1016/j.ehpc.2021.200505","url":null,"abstract":"<div><p>Anaplastic thyroid carcinoma (ATC), one of the most aggressive subtypes of thyroid cancer, is composed of undifferentiated thyroid follicular cells demonstrating ultrastructural or immunohistochemical features of epithelial differentiation. Frequently, these tumors can be shown to have originated from papillary thyroid carcinoma (PTC). ATC exists on a morphologic spectrum composed of three main patterns: spindle cell (sarcomatoid), giant cell, and epithelial (squamous) components.</p><p>Here we discuss two cases in which patients presented with upper airway symptoms and subsequently, a laryngotracheal lesion was detected by imaging studies and bronchoscopy. In each case, biopsies taken from these lesions showed invasive squamous cell carcinoma; however, both patients had previously undergone total thyroidectomy for PTC, and immunohistochemical studies revealed that the biopsied tumor cells were of thyroid origin. Furthermore, the cells harbored the <em>BRAF</em><sup>V600E</sup> mutation, suggesting anaplastic transformation from PTC.</p><p>Invasion into the larynx or trachea is a known complication of aggressive forms of thyroid cancer. However, laryngotracheal presentation of anaplastic thyroid carcinoma with squamous differentiation can easily be misdiagnosed as a primary squamous cell carcinoma. Immunohistochemical studies for thyroid lineage markers (e.g. PAX8) as well as squamous markers (e.g. p40, p63) should be performed, and if there is a known history of PTC, mutation analysis for <em>BRAF</em><sup>V600E</sup> can support the diagnosis via molecular testing or immunohistochemistry.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200505","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47952017","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
Full autopsy in a confirmed COVID-19 patient in Lagos, Nigeria – A case report 尼日利亚拉各斯一名COVID-19确诊患者的全面尸检-病例报告
Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200524
Samuel Olalekan Keshinro MBChB, FMCPath, DipFHID , Nicholas Awodele Awolola MBBS, FMCPath , Luqman Adedotun Adebayo MBBS, FMCPath , Wasiu Bamidele Mutiu MBBS, FMCPath , Babatunde Akeem Saka DVM, PhD , Ismail Adeshina Abdus-Salam MBBS, MPH, FMCPH&CM
{"title":"Full autopsy in a confirmed COVID-19 patient in Lagos, Nigeria – A case report","authors":"Samuel Olalekan Keshinro MBChB, FMCPath, DipFHID ,&nbsp;Nicholas Awodele Awolola MBBS, FMCPath ,&nbsp;Luqman Adedotun Adebayo MBBS, FMCPath ,&nbsp;Wasiu Bamidele Mutiu MBBS, FMCPath ,&nbsp;Babatunde Akeem Saka DVM, PhD ,&nbsp;Ismail Adeshina Abdus-Salam MBBS, MPH, FMCPH&CM","doi":"10.1016/j.ehpc.2021.200524","DOIUrl":"10.1016/j.ehpc.2021.200524","url":null,"abstract":"<div><h3>Objectives</h3><p>To report the postmortem findings of a severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) positive individual who died in Lagos (Nigeria) in June 2020 and to investigate the cause, pathogenesis as well as pathological changes noticed during the examination.</p></div><div><h3>Methods</h3><p>Complete postmortem examination was performed according to standard procedures in a regular autopsy suite using personal protective equipment including N95 masks, goggles and disposable gowns. The diagnosis of coronavirus disease 2019 (COVID-19) was confirmed by real-time reverse transcription polymerase chain reaction (RT-PCR) testing on postmortem nasopharyngeal swabs.</p></div><div><h3>Results</h3><p>A 47-year-old man with a medical history of well controlled hypertension and dyslipidaemia died after long hours of transportation for medical care in a hospital in Lagos. He tested positive for SARS-CoV-2 on ante- and postmortem nasopharyngeal swabs. Autopsy revealed pneumonia with diffuse alveolar damage, disseminated intravascular coagulopathy and hypovolaemic shock.</p></div><div><h3>Conclusions</h3><p>Autopsy can be performed on decedents who died from or with SARS-CoV-2 infection in a low resource environment such as ours. A standard autopsy room was used while deploying recommended infection prevention control and regular decontamination. The clinical details, autopsy findings such as diffuse alveolar damage and airway inflammation were consistent with a COVID-19 related pathology. While the decedent had ‘controlled’ co-morbidity, he succumbed to multi-organ failure occasioned by shock and disseminated intravascular coagulopathy.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200524","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39011525","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: 3
Rare presentation of SMARCA4-deficient thoracic tumor diagnosed with palatal tonsil biopsy 腭扁桃体活检诊断SMARCA4缺陷型胸部肿瘤的罕见表现
Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200508
Naomi Kudo , Akira Kurose , Ryutaro Hara , Junko Takahata , Kengo Hasui , Atsushi Sato , Atsushi Matsubara
{"title":"Rare presentation of SMARCA4-deficient thoracic tumor diagnosed with palatal tonsil biopsy","authors":"Naomi Kudo ,&nbsp;Akira Kurose ,&nbsp;Ryutaro Hara ,&nbsp;Junko Takahata ,&nbsp;Kengo Hasui ,&nbsp;Atsushi Sato ,&nbsp;Atsushi Matsubara","doi":"10.1016/j.ehpc.2021.200508","DOIUrl":"10.1016/j.ehpc.2021.200508","url":null,"abstract":"<div><p>SMARCA4-deficient thoracic tumor (SMARCA4-DTT) is a relatively new pathological entity with highly aggressive characteristics. With mass lesions developing in the thoracic region, patients tend to complain of chest symptoms, such as dyspnea or chest pain. Here, we encountered a rare case of SMARCA4-DTT presenting to the otolaryngology clinic with painful throat and diagnosed by palatal tonsil biopsy.</p><p>A 47-year-old male patient with heavy smoking habit presented to a nearby clinic due to sore throat occurring a few days before presentation. Antibiotic therapy was prescribed for the treatment of acute tonsillitis. However, the pain exacerbated, and mass lesion in the submandibular region started to develop. The patient was referred to our department for detailed examination due to suspected pharyngeal malignancy. Right tonsil biopsy was performed, and the patient was diagnosed with SMARCA4-deficient tumor. Computed tomography illustrated compressive mass lesion in the mediastinum and multiple swelling of systemic lymph nodes. Although radiotherapy and chemotherapy were performed, the lesion rapidly progressed, and brain metastasis also occurred. The patient followed a poor disease course and died 91 days after the first symptom.</p><p>SMARCA4-deficient tumor has been reported in other sites, such as ovary, uterus, and gastrointestinal tract. The purpose of the present article is to make literature review on clinicopathological characteristics of SMARCA4-deficient tumors in various sites while reporting the rare presentation of SMARCA4-DTT.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200508","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44604767","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
Novel fusion KTN1-PRKD1 in cribriform adenocarcinoma of salivary glands located in the parotid gland: Case report including cytologic findings 新型融合KTN1-PRKD1在腮腺筛状腺癌中的应用:包括细胞学结果的病例报告
Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200496
T. Jassim , T. Sheng , S. Zhang , S. Wei , S. Arnold , A. Kejner , T.J. Bocklage , J.C. Dueber
{"title":"Novel fusion KTN1-PRKD1 in cribriform adenocarcinoma of salivary glands located in the parotid gland: Case report including cytologic findings","authors":"T. Jassim ,&nbsp;T. Sheng ,&nbsp;S. Zhang ,&nbsp;S. Wei ,&nbsp;S. Arnold ,&nbsp;A. Kejner ,&nbsp;T.J. Bocklage ,&nbsp;J.C. Dueber","doi":"10.1016/j.ehpc.2021.200496","DOIUrl":"10.1016/j.ehpc.2021.200496","url":null,"abstract":"<div><h3>Background</h3><p>Cribriform adenocarcinoma of salivary glands (CASG) is a rare, predominantly minor salivary gland tumor first described in 1999. Because the tumor shares morphologic and molecular features with polymorphous adenocarcinoma (PAC), in 2017, the World Health Organization (WHO) included CASG within the spectrum of PAC. Almost 75% of CASG harbor molecular alterations in the <em>PRKD</em> (Protein kinase D) gene family, and some cases show <em>ARID1A</em> (AT-rich interaction domain 1A)-<em>PRKD1</em> or <em>DDX3X (</em>DEAD-Box Helicase 3 X-Linked)-<em>PRKD1</em> fusions.</p></div><div><h3>Case presentation</h3><p>A 39-year-old man presented with headache and painless right cheek mass of two years duration. Imaging showed a well-circumscribed, lobulated 1.7-centimeter mass located in the superficial lobe of the right parotid gland. Fine needle aspiration (FNA) of the mass revealed a “salivary gland neoplasm of uncertain malignant potential” (SUMP). Histopathology and immunohistochemical features of the resected tumor showed a primary salivary gland neoplasm with perineural invasion suggestive of cribriform adenocarcinoma of the salivary glands (CASG). Whole exome sequencing (WES) and transcriptome sequencing (RNAseq) of the tumor revealed a novel, intrachromosomal gene fusion: <em>KTN1</em> (Kinectin1)-<em>PRKD1</em>. Sanger sequencing and Florescent insitu hybridization (FISH) break apart probe results subsequently confirmed the presence of the fusion. The patient recovered from surgery without complications.</p></div><div><h3>Conclusion</h3><p>We report a novel fusion <em>KTN1-PRKD1</em> in Cribriform Adenocarcinoma of the Salivary Glands located in the parotid gland. Importantly, this <em>KTN1</em> fusion partner may account for other reports of intrachromosomal fusions in CASG in which the <em>PRKD1</em> gene partner was not identified.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200496","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45726242","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
Simultaneous colonic T-cell lymphoma and graft-versus-host disease: A rare diagnosis 同时发生结肠T细胞淋巴瘤和移植物抗宿主病的罕见诊断
Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200507
Savanah D. Gisriel , Kenneth W. Hung , Demetrios T. Braddock , Stuart Seropian , Francine M. Foss , Marie E. Robert , Mina L. Xu
{"title":"Simultaneous colonic T-cell lymphoma and graft-versus-host disease: A rare diagnosis","authors":"Savanah D. Gisriel ,&nbsp;Kenneth W. Hung ,&nbsp;Demetrios T. Braddock ,&nbsp;Stuart Seropian ,&nbsp;Francine M. Foss ,&nbsp;Marie E. Robert ,&nbsp;Mina L. Xu","doi":"10.1016/j.ehpc.2021.200507","DOIUrl":"10.1016/j.ehpc.2021.200507","url":null,"abstract":"<div><p>Cutaneous T-cell lymphoma (CTCL) presenting as mycosis fungoides is typically localized to the skin and occasional draining lymph nodes. We present a 46-year-old man with refractory CTCL status-post allogeneic stem cell transplant who was biopsied for diarrhea and abdominal pain. These gastrointestinal biopsies revealed not only graft-versus-host-disease but also a clonal atypical lymphoid infiltrate with the same morphology and immunophenotype as the patient’s known CTCL. We discuss the differential diagnosis of CTCL metastatic to the intestinal mucosa versus post-transplant lymphoproliferative disorder and present a review of the literature. This case demonstrates challenging diagnostic workups in limited tissue samples as well as critical clinical implications.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200507","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41565947","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
Large cell neuroblastoma – Phenotypical variant of MYC-driven neuroblastoma: Report of 2 cases with different molecular characteristics 大细胞神经母细胞瘤- myc驱动的神经母细胞瘤的表型变异:2例不同分子特征的报告
Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200493
Tamás Tornóczky , Bálint Kaszás , Gábor Ottóffy , Diána Hosnyánszki , Réka Simon , Florette K. Hazard , Hiroyuki Shimada
{"title":"Large cell neuroblastoma – Phenotypical variant of MYC-driven neuroblastoma: Report of 2 cases with different molecular characteristics","authors":"Tamás Tornóczky ,&nbsp;Bálint Kaszás ,&nbsp;Gábor Ottóffy ,&nbsp;Diána Hosnyánszki ,&nbsp;Réka Simon ,&nbsp;Florette K. Hazard ,&nbsp;Hiroyuki Shimada","doi":"10.1016/j.ehpc.2021.200493","DOIUrl":"10.1016/j.ehpc.2021.200493","url":null,"abstract":"<div><p>Two rare cases of large cell neuroblastoma (LCN) are reported. Case 1 (8-year-old male) showed the appearance of Neuroblastoma, poorly differentiated subtype with a high MKI (Mitosis-Karyorrhexis Index) and Case 2 (7-year-old male) was Neuroblastoma, undifferentiated subtype with a low MKI. Both cases were classified into the Unfavorable Histology Group according to the International Neuroblastoma Pathology Classification and their tumors were characteristically composed of neuroblastic cells with enlarged and often pale or vacuolated nuclei containing one or few prominent nucleoli. While LCN is a phenotypical variant of MYC-driven neuroblastoma overexpressing MYC-family protein, the two tumors presented in this report had different molecular characteristics: One had n-<em>MYC</em> oncogene amplification with n-MYC protein overexpression (Case 1), and the other had c-MYC protein overexpression without genomic amplification (Case 2). It was also noted that the tumor cells in Case 2 demonstrated “aberrant” desmin expression by immunostaining.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200493","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48522432","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: 2
Rare presentations and literature review of Rosai Dorfman disease of the breast 乳腺Rosai Dorfman病的罕见报告及文献回顾
Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200503
Asha Reddy , Shalaka Joshi , Palak Popat , Tanuja Shet
{"title":"Rare presentations and literature review of Rosai Dorfman disease of the breast","authors":"Asha Reddy ,&nbsp;Shalaka Joshi ,&nbsp;Palak Popat ,&nbsp;Tanuja Shet","doi":"10.1016/j.ehpc.2021.200503","DOIUrl":"10.1016/j.ehpc.2021.200503","url":null,"abstract":"<div><h3>Introduction</h3><p>Rosai-Dorfman disease (RDD) is a rare, idiopathic, proliferative disorder of histiocytes usually involving head-neck lymph nodes. It can also involve extra nodal sites like skin, nasal sinuses, and soft tissue. It rarely affects the breast.</p></div><div><h3>Case presentation</h3><p>We present three unusual case scenarios of breast RDD. One presented with breast lump, clinico-radiologically mimicking early breast cancer. The second case was thought to be de-novo metastatic breast cancer, but was found to have disseminated RDD of breast, lymph nodes and bones. The third patient was that of cervical lymphadenopathy in a breast cancer survivor masquerading as recurrence. In all 3, histopathology showing emperipolesis and immunohistochemical staining with S100 clinched the diagnosis.</p></div><div><h3>Discussion</h3><p>The diagnosis of RDD is made by histopathology. The classic histological picture consists of a lymphoid rich associated infiltrate, atypical nuclei of the histiocytes and lack of fat necrosis or acute inflammatory cells. These histiocytes typically stain positive with S100 and CD168 on immunohistochemistry.<!--> <!-->Hence, an excision biopsy is often necessary, and mostly the only treatment needed. However, if the disease is disseminated or has massive lymphadenopathy, a course of oral steroids or chemotherapy is indicated.</p></div><div><h3>Conclusion</h3><p>RDD of the breast usually has an indolent, benign, and non-aggressive course that requires minimum treatment. A high index of suspicion and accurate histopathological diagnosis is utmost important for proper management.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200503","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43064382","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
Cap polyposis of the colon: A report of 2 cases with unique clinical presentations but similar histopathologic findings 结肠帽状息肉病2例,临床表现独特,病理组织相似
Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200506
S. Krisztian Kovacs MD, Kristina A. Matkowskyj MD, PhD
{"title":"Cap polyposis of the colon: A report of 2 cases with unique clinical presentations but similar histopathologic findings","authors":"S. Krisztian Kovacs MD,&nbsp;Kristina A. Matkowskyj MD, PhD","doi":"10.1016/j.ehpc.2021.200506","DOIUrl":"10.1016/j.ehpc.2021.200506","url":null,"abstract":"<div><p>Cap polyposis is a rare, non-neoplastic disease characterized by multiple inflammatory polyps that are covered by a “cap” of fibrinopurulent granulation tissue and in most cases are located between the distal colon and the rectum. Patients usually present with bloody diarrhea, mucoid stools, and constipation. Endoscopically, mucosal polypoid structures are seen in the colon covered with a characteristic superficial, adherent white “cap” with normal intervening mucosa. Cap polyposis affects patients over a wide age range and, in rare instances, may also affect children. We report 2 cases of cap polyposis in the descending and rectosigmoid colon of a 6-year-old girl and in the rectosigmoid colon of a 61-year-old woman who have been followed for 8 and 6 years, respectively. Initial clinical examination and imaging, including computed tomography and colonoscopy revealed changes suspicious for inflammatory bowel disease and malignancy. Subsequent and repeated histopathological examinations however, revealed cap polyposis without definitive evidence of infection, chronic mucosal architectural changes, mucosal prolapse or dysplasia. We believe that this the first report of a pediatric patient with diffuse involvement of the descending and rectosigmoid colon by multiple inflammatory cap polyps mimicking inflammatory bowel disease. Furthermore, the unusual clinical presentation in both patients made the final diagnosis of cap polyposis challenging. When typical morphologic features of inflammatory-type polyposis present without evidence of mucosal prolapse, inflammatory bowel disease, inflammation or malignancy, a high index of suspicion for cap polyposis is warranted for timely recognition and treatment.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200506","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46348511","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
ALK-positive histiocytosis of the umbilicus with KIF5B-ALK fusion: A case report and review of the literature 脐带alk阳性组织细胞增生合并KIF5B-ALK融合:1例报告及文献复习
Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200504
Yili Zhu , Jun Fan , Huaxiong Pan , Bo Huang , Ying Wu , Heshui Shi , Xiu Nie
{"title":"ALK-positive histiocytosis of the umbilicus with KIF5B-ALK fusion: A case report and review of the literature","authors":"Yili Zhu ,&nbsp;Jun Fan ,&nbsp;Huaxiong Pan ,&nbsp;Bo Huang ,&nbsp;Ying Wu ,&nbsp;Heshui Shi ,&nbsp;Xiu Nie","doi":"10.1016/j.ehpc.2021.200504","DOIUrl":"10.1016/j.ehpc.2021.200504","url":null,"abstract":"<div><h3>Background</h3><p>Since the first report in 2008 of cases of anaplastic lymphoma kinase (ALK)-positive histiocytosis,<!--> <!-->originally described as a systemic, self-limiting disease in infants, the range of ALK-positive histiocytosis has been expanded to include localized diseases in older children and adults.</p></div><div><h3>Case presentation</h3><p>We present the case of an 18-year-old woman with a periumbilical painless mass for 5 months who underwent resection of the mass. Pathological examination showed that the tumour consisted predominantly of fascicular to storiform growth of nonatypical spindle cells admixed with lymphocytic infiltrates. The tumour spindle cells were diffusely positive for CD68, CD163 and ALK. Further molecular tests revealed an ALK gene fusion with Kinesin Family Member 5B (KIF5B) (E24)-ALK (E20), confirming ALK-positive histiocytosis. Follow-up at one and a half years after resection showed no tumour recurrence.</p></div><div><h3>Conclusion</h3><p>Remission of ALK-positive histiocytosis in local lesions can be achieved by complete resection, and clinical follow-up shows a favourable prognosis.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200504","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43493792","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: 2
Sibling donor-derived myeloid sarcoma after hematopoietic stem cell transplant 造血干细胞移植后同胞供者来源的髓系肉瘤
Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200512
Janelle Otsuji, Nicole Girard , Catherine Spier, Deborah Fuchs, Li-Wen Lai
{"title":"Sibling donor-derived myeloid sarcoma after hematopoietic stem cell transplant","authors":"Janelle Otsuji,&nbsp;Nicole Girard ,&nbsp;Catherine Spier,&nbsp;Deborah Fuchs,&nbsp;Li-Wen Lai","doi":"10.1016/j.ehpc.2021.200512","DOIUrl":"10.1016/j.ehpc.2021.200512","url":null,"abstract":"<div><p>Donor-derived myeloid sarcoma (DDMS) is a rare complication which occurs when donor stem cells undergo leukemic transformation. We report here two cases of DDMS following successful allogenic hematopoietic stem cell transplant (allo-HSCT) from HLA-identical, sex-mismatched sibling donors. Both were males in their fourth decade of life and originally diagnosed in 2012 with acute myeloid leukemia (AML) with t(6;11)(q27;q23) and AML with myelodysplasia-related changes (AML-MRC), respectively. They went onto allo-HSCT from their respective haploidentical sisters as donors and achieved complete engraftment in 2014. Both were in remission until 2019 when they were diagnosed with clinical relapse of AML in the setting of DDMS, one presenting in bilateral tibiae and the other in the testis. Verifying donor origin in AML relapse is critical as transformed donor cells may have different genetic alterations and behaviors from initial AML. We reviewed the literature of donor derived myeloid sarcoma and discussed the pathogenesis of this rare late complication of HSCT.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200512","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44555059","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: 2
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信