Journal of Pediatric Hematology/Oncology最新文献

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Elevated Interleukin-6 Levels as a Potential Marker of Neonatal Morbidity in Full-term Infants With Polycythemia: A Prospective Study. 白细胞介素-6 水平升高是多血症足月儿新生儿发病率的潜在标志:一项前瞻性研究。
IF 0.9 4区 医学
Journal of Pediatric Hematology/Oncology Pub Date : 2024-11-08 DOI: 10.1097/MPH.0000000000002968
Reyhan Tamer, Şerife Suna Oğuz Ünal, Can Yilmaz Yozgat
{"title":"Elevated Interleukin-6 Levels as a Potential Marker of Neonatal Morbidity in Full-term Infants With Polycythemia: A Prospective Study.","authors":"Reyhan Tamer, Şerife Suna Oğuz Ünal, Can Yilmaz Yozgat","doi":"10.1097/MPH.0000000000002968","DOIUrl":"https://doi.org/10.1097/MPH.0000000000002968","url":null,"abstract":"<p><strong>Objective: </strong>To research and show that interleukin-6 (IL-6) and c-reactive protein (CRP), which can be used as infection markers, are also higher among newborns with polycythemia. The study took place in the neonatal intensive care unit of Zekai Tahir Burak Maternity Teaching and Research Hospital.</p><p><strong>Patients and methods: </strong>Infants with a gestational age of >37 weeks were included in the study. Infants with chorioamnionitis, perinatal asphyxia, and positive blood culture were excluded from the study. Blood samples were obtained six hours after the delivery from the peripheral vein of the infants for measurements of central hematocrit, blood culture, IL-6, and CRP. Infants with a venous hematocrit value of >65% were grouped as the \"polycythemia group,\" and the ones with a venous hematocrit value of <65% were designated as the \"control group.\" Observation of significantly higher levels of CRP and IL-6 among newborns admitted to the neonatal intensive care unit due to different causes (such as respiratory distress, hypoglycemia, and feeding intolerance), but significantly higher IL-6 levels in newborns with polycythemia.</p><p><strong>Results: </strong>Thirty-five newborns (18 infants in the polycythemia group and 17 infants in the control group) were enrolled in the study. The IL-6 values for the polycythemia group were higher than the upper normal limits (mean ± 2SD, 37.6 ± 55 vs 12 ± 5 pg/dL, respectively; P = 0.00). The IL-6 values of the polycythemia group were found to be higher than the IL-6 values of the control group, with a mean ± 2SD of 37.6 ± 55 vs 6.3 ± 3.4 pg/dL, respectively; this was significant (P = 0.00). Although the CRP values of the polycythemia group were found to be slightly higher than those of the control group (a mean ± 2SD of 3.06 ± 4.07 vs 1.54 ± 2.21 mg/dL, respectively, P > 0.05), this was not significant.</p><p><strong>Conclusions: </strong>This study found a significant and robust statistical correlation between IL-6 and v. Hct values (P = 0.01, rs = 0.641). Contrary to IL-6 levels, however, a meaningful relationship was not found between CRP and v.htc values (P = 0.286; rs = 0.184).</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hepatoblastoma in a 13-month-old Male With Oculofaciocardiodental Syndrome. 一名 13 个月大的患有眼耳鼻畸形综合征的男婴体内的肝母细胞瘤
IF 0.9 4区 医学
Journal of Pediatric Hematology/Oncology Pub Date : 2024-11-07 DOI: 10.1097/MPH.0000000000002973
Kriti Kumar, Chitra Prasad, Diana Masse, Jennifer Seelisch
{"title":"Hepatoblastoma in a 13-month-old Male With Oculofaciocardiodental Syndrome.","authors":"Kriti Kumar, Chitra Prasad, Diana Masse, Jennifer Seelisch","doi":"10.1097/MPH.0000000000002973","DOIUrl":"https://doi.org/10.1097/MPH.0000000000002973","url":null,"abstract":"<p><strong>Background: </strong>Oculofaciocardiodental (OFCD) syndrome is an X-linked dominant condition that is typically lethal in males.</p><p><strong>Observations: </strong>A 13-month-old male patient with OFCD syndrome presented with hepatoblastoma. He received chemotherapy per standard of care and had a surgical resection with few complications. He received sodium thiosulfate for otoprotection and dexrazoxane for cardioprotection. Five years after diagnosis, he remains well and in remission.</p><p><strong>Conclusions: </strong>Malignancies have been reported in patients with OFCD syndrome; however, our patient is the only male with OFCD syndrome described with hepatoblastoma. Given the rarity of this condition, malignancy may be part of the spectrum of disease.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Case Report of Dinutuximab-induced Atypical Hemolytic Uremic Syndrome. 地纽昔单抗诱发非典型溶血性尿毒症病例报告
IF 0.9 4区 医学
Journal of Pediatric Hematology/Oncology Pub Date : 2024-11-07 DOI: 10.1097/MPH.0000000000002966
Letha Huang, Danielle Miller, Fouad Hajjar
{"title":"Case Report of Dinutuximab-induced Atypical Hemolytic Uremic Syndrome.","authors":"Letha Huang, Danielle Miller, Fouad Hajjar","doi":"10.1097/MPH.0000000000002966","DOIUrl":"https://doi.org/10.1097/MPH.0000000000002966","url":null,"abstract":"<p><p>Limited evidence exists describing the relationship between the development of atypical hemolytic uremic syndrome (aHUS) and the administration of dinutuximab. This case report describes a 20-year-old male with neuroblastoma who experienced aHUS post-dinutuximab administration. The patient presented with uncontrolled hypertension and renal dysfunction, ultimately receiving a definitive diagnosis of aHUS through a renal biopsy. The patient required complement-directed therapy with eculizmab and later transitioned to ravulizumab. This case further describes a sequential relationship between dinutuximab administration and aHUS development.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Retrospective Comparison of Targeted Anticancer Drugs Predicted by the CNS-TAP Tool Versus Those Selected by a Molecularly Driven Tumor Board in Children With DIPG. 中枢神经系统靶向治疗工具(CNS-TAP)预测的靶向抗癌药物与分子驱动肿瘤委员会(Molecularly Driven Tumor Board)为 DIPG 儿童患者选择的靶向抗癌药物的回顾性比较。
IF 0.9 4区 医学
Journal of Pediatric Hematology/Oncology Pub Date : 2024-11-06 DOI: 10.1097/MPH.0000000000002964
Holly J Roberts, Karthik Ravi, Bernard L Marini, Allison Schepers, Cassie Kline, Lindsay Kilburn, Michael Prados, Sara A Byron, Julie Sturza, Sabine Mueller, Carl Koschmann, Andrea T Franson
{"title":"Retrospective Comparison of Targeted Anticancer Drugs Predicted by the CNS-TAP Tool Versus Those Selected by a Molecularly Driven Tumor Board in Children With DIPG.","authors":"Holly J Roberts, Karthik Ravi, Bernard L Marini, Allison Schepers, Cassie Kline, Lindsay Kilburn, Michael Prados, Sara A Byron, Julie Sturza, Sabine Mueller, Carl Koschmann, Andrea T Franson","doi":"10.1097/MPH.0000000000002964","DOIUrl":"https://doi.org/10.1097/MPH.0000000000002964","url":null,"abstract":"<p><p>The recent trial Pediatric Neuro-Oncology Consortium 003 (PNOC003) utilized a molecular tumor board to recommend personalized treatment regimens based on tumor sequencing results in children with DIPG. We separately developed the Central Nervous System Targeted Agent Prediction (CNS-TAP) tool, which numerically scores targeted anticancer agents using preclinical, clinical, and patient-specific data. We hypothesized that highly scored agents from CNS-TAP would overlap with the PNOC003 tumor board's recommendations. For each of the 28 participants, actionable genetic alterations were derived from PNOC003 genomic reports and input to CNS-TAP to identify the highest scoring agents. These agents were then compared with PNOC003 recommendations, with a resultant concordance percentage calculated. Overall, 38% of the total agents recommended by the tumor board were also selected by CNS-TAP, with higher concordance (63%) in a subanalysis including only targeted anticancer agents. Furthermore, nearly all patients (93%) had at least 1 drug chosen by both methods. We demonstrate overlap between agents recommended by CNS-TAP and PNOC003 tumor board, though this does not appear to improve survival. We do observe some discordance, highlighting strengths and limitations of each method. We propose that a combination of expert opinion and data-driven tools may improve targeted treatment recommendations for children with DIPG.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vanishing Bile Duct Syndrome in Pediatric Hodgkin Lymphoma: First Statistical Analysis of All Published Cases in Children and a Case Report. 小儿霍奇金淋巴瘤胆管消失综合征:首次对所有已发表的儿童病例进行统计分析并进行病例报告。
IF 0.9 4区 医学
Journal of Pediatric Hematology/Oncology Pub Date : 2024-11-06 DOI: 10.1097/MPH.0000000000002969
Rahat Ul Ain, Aiman Gull, Bushra Mohsin, Zonaira Rathore, Mahwish Faizan
{"title":"Vanishing Bile Duct Syndrome in Pediatric Hodgkin Lymphoma: First Statistical Analysis of All Published Cases in Children and a Case Report.","authors":"Rahat Ul Ain, Aiman Gull, Bushra Mohsin, Zonaira Rathore, Mahwish Faizan","doi":"10.1097/MPH.0000000000002969","DOIUrl":"https://doi.org/10.1097/MPH.0000000000002969","url":null,"abstract":"<p><p>Hodgkin lymphoma with vanishing bile duct syndrome is a rare paraneoplastic syndrome and has never been studied in the pediatric population. The objectives of this study were to determine the clinical characteristics of this rare condition in children through a literature review, and a descriptive analysis of all published cases with the index case report. All reported cases fulfilling the inclusion criteria were found through a literature search, and analyzed in descriptive statistics. A total of 10 cases were included in the study with a median age of 9.5 years and a male-to-female ratio of 9:1. The median duration of symptoms was 5.5 weeks with 3 cases having jaundice before the symptoms of lymphoma. The median bilirubin level was 8.4 mg/dL. Seven cases received modified chemotherapy, and 5 used ursodeoxycholic acid. The survival rate was 50%. Normalization of liver functions after the lymphoma treatment was observed in 4 cases and was the only statistically significant factor (P=0.01) associated with the outcome. This is a rare entity in the pediatric population with a guarded prognosis comparable to the adult counterparts but a marked male predominance.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142622714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pediatric Plasmablastic Lymphoma in the Setting of CD70 Deficiency. 缺乏 CD70 的小儿浆细胞性淋巴瘤
IF 0.9 4区 医学
Journal of Pediatric Hematology/Oncology Pub Date : 2024-11-01 Epub Date: 2024-09-05 DOI: 10.1097/MPH.0000000000002948
Kubra Baskin, Ozge Vural, Sule Haskologlu, Baran Erman, Pinar Uyar Gocun, Arzu Okur, Figen Dogu, Faruk Guclu Pinarli, Aydan Ikinciogullari
{"title":"Pediatric Plasmablastic Lymphoma in the Setting of CD70 Deficiency.","authors":"Kubra Baskin, Ozge Vural, Sule Haskologlu, Baran Erman, Pinar Uyar Gocun, Arzu Okur, Figen Dogu, Faruk Guclu Pinarli, Aydan Ikinciogullari","doi":"10.1097/MPH.0000000000002948","DOIUrl":"10.1097/MPH.0000000000002948","url":null,"abstract":"<p><p>Combined immunodeficiency due to CD70 deficiency is characterized by increased susceptibility to infections, hypogammaglobulinemia, and malignancy. These patients typically present with chronic Epstein Barr virus (EBV) viremia, severe EBV-related hemophagocytic lymphohistiocytosis, lymphoproliferation, and Hodgkin and non-Hodgkin lymphomas. Plasmablastic lymphoma (PBL) is an extremely rare malignancy in all ages and is predominantly seen in male adults with human immunodeficiency virus infection. EBV infection, immunosuppression, solid organ transplantation, and age-related immune deterioration are also suspected causes of PBL. Nevertheless, there is scarce data about its association with primary immunodeficiencies in the literature. Here, we present the first case of a CD70 -deficient pediatric patient with PBL.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"438-441"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Metachronous Bilateral Adrenal Neuroblastoma: A Case Report and Literature Review. 同种双侧肾上腺神经母细胞瘤:病例报告和文献综述。
IF 0.9 4区 医学
Journal of Pediatric Hematology/Oncology Pub Date : 2024-11-01 Epub Date: 2024-09-30 DOI: 10.1097/MPH.0000000000002954
Serena Tropia, Angela Guarina, Giulia Angela Restivo, Fabrizio Di Francesco, Angela Trizzino, Paolo D'Angelo
{"title":"Metachronous Bilateral Adrenal Neuroblastoma: A Case Report and Literature Review.","authors":"Serena Tropia, Angela Guarina, Giulia Angela Restivo, Fabrizio Di Francesco, Angela Trizzino, Paolo D'Angelo","doi":"10.1097/MPH.0000000000002954","DOIUrl":"10.1097/MPH.0000000000002954","url":null,"abstract":"<p><p>A baby presented with a large right adrenal mass, multiple hepatic lesions and diffuse bone marrow infiltration when she was just over 1 month old. After needle biopsy and a histologic definition of neuroblastoma, she underwent chemotherapy and a subsequent complete resection. Three years after diagnosis, a large left adrenal localized mass was detected. The patient underwent complete surgical excision, and a diagnosis of poorly differentiated neuroblastoma with multiple lymph nodes involvement was defined. Adjuvant chemotherapy was initiated. To our knowledge, it is the first case report of metachronous bilateral adrenal neuroblastomas harboring completely different genetic expression profiles.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"429-432"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Anticoagulation for Septic Cerebral Venous Thrombosis in Childhood. 儿童化脓性脑静脉血栓的抗凝治疗。
IF 0.9 4区 医学
Journal of Pediatric Hematology/Oncology Pub Date : 2024-11-01 Epub Date: 2024-09-09 DOI: 10.1097/MPH.0000000000002949
Hareen Seerha, Kristin Maher, Dwight Barry, Catherine Amlie-Lefond
{"title":"Anticoagulation for Septic Cerebral Venous Thrombosis in Childhood.","authors":"Hareen Seerha, Kristin Maher, Dwight Barry, Catherine Amlie-Lefond","doi":"10.1097/MPH.0000000000002949","DOIUrl":"10.1097/MPH.0000000000002949","url":null,"abstract":"<p><p>Anticoagulation is recommended for most children with cerebral venous thrombosis (CVT) to prevent venous infarction and promote recanalization. An exception is CVT associated with head and neck infection (septic CVT), for which treatment of infection without concomitant use of anticoagulation is recommended. Despite this, the use of anticoagulation in septic CVT is controversial, and children with septic CVT are often anticoagulated due to concerns about thrombus progression and persistence despite infection treatment. A retrospective study of children with septic CVT cared for at Seattle Children's Hospital between 2009 and 2023 was conducted to assess the safety and outcome of anticoagulation. Among 40 children with septic CVT, 25 (63%) received anticoagulation. None had bleeding complications. Performance of follow-up venous imaging was inconsistent and more commonly pursued in patients treated with anticoagulation. A total of 23/40 (58%) patients were evaluable at 1 month, among whom 26% (6/23) had resolution of thrombus and 74% (17/23) had persistence. A total of 22/40 (55%) patients were evaluable at 3 months, among whom 77% (17/22) had resolution of thrombus and 23% (5/22) had persistence. This supports the safety of anticoagulation, but further studies are needed to determine whether anticoagulation improves outcomes after septic CVT.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"404-408"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Paroxysmal Cold Hemoglobinuria: Mild to Catastrophic-Spectrum of a Rare Hemolytic Anemia of Childhood. 阵发性冷性血红蛋白尿:儿童期罕见溶血性贫血的轻度至重度谱系。
IF 0.9 4区 医学
Journal of Pediatric Hematology/Oncology Pub Date : 2024-11-01 Epub Date: 2024-09-25 DOI: 10.1097/MPH.0000000000002953
Sneha Agarwala, Manas Kalra, Anupam Sachdeva, Kanav Anand, Rasika Setia
{"title":"Paroxysmal Cold Hemoglobinuria: Mild to Catastrophic-Spectrum of a Rare Hemolytic Anemia of Childhood.","authors":"Sneha Agarwala, Manas Kalra, Anupam Sachdeva, Kanav Anand, Rasika Setia","doi":"10.1097/MPH.0000000000002953","DOIUrl":"10.1097/MPH.0000000000002953","url":null,"abstract":"<p><p>Paroxysmal cold hemoglobinuria (PCH) is among the rarest forms of autoimmune hemolytic anemia, most often seen in young children. PCH is caused by a biphasic immunoglobulin G antibody that binds to red cells at low temperatures and causes complement-mediated lysis as the temperature is raised. Diagnosis is based on high clinical suspicion followed by confirmation of the presence of Donath-Landsteiner antibodies. We have described 3 cases diagnosed with PCH over a span of 1 year, 2 cases presented with acute kidney injury with variable severity and needed hemodialysis. Another case showed prompt recovery with supportive treatment, suggesting variable severity of PCH. This report intends to generate awareness of this rare condition which is often misdiagnosed as nonspecific autoimmune hemolytic anemia and leads to unnecessary prolonged immunosuppressive therapy. It also emphasizes the rare possibility of the need for prompt renal replacement therapy in an otherwise benign self-limiting disorder.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"415-418"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spindle Cell Neoplasm With a Novel MN1::TAF3 Fusion: A Rare Case in a Toddler. 新型 MN1::TAF3 融合的纺锤形细胞肿瘤:幼儿中的罕见病例。
IF 0.9 4区 医学
Journal of Pediatric Hematology/Oncology Pub Date : 2024-11-01 Epub Date: 2024-10-07 DOI: 10.1097/MPH.0000000000002955
Jesse White, Kerri Becktell, Amanda Hopp, Nicole Liberio, Yajuan J Liu, Jennifer Hadjiev
{"title":"Spindle Cell Neoplasm With a Novel MN1::TAF3 Fusion: A Rare Case in a Toddler.","authors":"Jesse White, Kerri Becktell, Amanda Hopp, Nicole Liberio, Yajuan J Liu, Jennifer Hadjiev","doi":"10.1097/MPH.0000000000002955","DOIUrl":"10.1097/MPH.0000000000002955","url":null,"abstract":"<p><p>Spindle cell tumors in the pediatric population are uncommonly reported. This case discusses an 18-month-old who presented initially with unilateral ptosis and was found to have an orbital spindle cell tumor. Pathology evaluation of the tissue was extensive with nonspecific morphologic and immunohistochemical features. Molecular testing demonstrated an MN1::TAF3 fusion on RNA sequencing, which has not been previously described in the literature in association with spindle cell neoplasms. This case highlights the challenging nature of classifying and treating a tumor with a novel fusion.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"442-445"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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