Pediatric Hematology Oncology Journal最新文献

{"title":"Kikuchi’s disease with secondary histiocytic lymphohistiocytosis","authors":"Pooja Pallavi,&nbsp;H.S. Rajani,&nbsp;D. Usha Rani,&nbsp;D. Narayanappa,&nbsp;N. Rashmi","doi":"10.1016/j.phoj.2024.03.011","DOIUrl":"https://doi.org/10.1016/j.phoj.2024.03.011","url":null,"abstract":"<div><h3>Background</h3><p>Kikuchi–Fujimoto disease (KFD) presents with painful cervical lymphadenopathy, persistent high-grade fever, leukopenia, and deranged liver function tests. KFD usually has a benign course and is self-limiting but may sometimes cause fatal complications such as secondary histiocytic lymphohistiocytosis (HLH).</p></div><div><h3>Case report</h3><p>We report a 13-year-old boy, a known case of thalassemia major on regular blood transfusions with post-splenectomy status and on chelators. He presented with persistent high-grade fever and cervical lymphadenopathy. The initial diagnosis of KFD was confirmed by lymph node biopsy. Given persistent fever, bicytopenia, and high ferritin levels, HLH was considered. Lymph node biopsy confirmed the diagnosis of KFD with secondary HLH. The child had neurological manifestations in the form of convulsions. He recovered with steroids and supportive care.</p></div><div><h3>Conclusions</h3><p>This case report emphasizes that although KFD is benign, complications, including secondary HLH and neurological complications, may occur that need to be recognized and managed.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 120-124"},"PeriodicalIF":0.0,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000305/pdfft?md5=1c6427995d94d12967d10489c29746fe&pid=1-s2.0-S2468124524000305-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140555388","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}

{"title":"Coagulopathy in pediatric acute promyelocytic leukemia in Bangladesh: A single-center, prospective study","authors":"Eshita Reza Khan ,&nbsp;Ferdousi Begum ,&nbsp;Afiqul Islam ,&nbsp;K.M. Ahasan Ahmed","doi":"10.1016/j.phoj.2024.03.012","DOIUrl":"10.1016/j.phoj.2024.03.012","url":null,"abstract":"<div><h3>Background</h3><p>Acute promyelocytic leukemia (APL) is one of the most curable subtypes of acute myeloid leukemia in childhood. It usually presents with a characteristic coagulopathy. The aim of the study was to determine the extent and outcome of this coagulation disorder.</p></div><div><h3>Methods</h3><p>This prospective observational study was conducted at Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, and included PML:RAR-α (Promyelocytic Leukemia-Retinoic Acid Receptor-α) positive APL cases. At presentation, all patients were assessed with coagulation parameters and followed up clinically and hematologically while treated with ATRA (all-trans-retinoic acid)-based chemotherapy. The presence of disseminated intravascular coagulation (DIC) was determined using the DIC scoring system of the International Society on Thrombosis and Hemostasis (ISTH).</p></div><div><h3>Results</h3><p>Among 20 APL cases, the mean DIC score was 5.75 ± 0.6. DIC was detected in 90% (n = 18/20) of the patients. The incidence of fatal thrombo-hemorrhagic complications was 15% (n = 3/20). Though hemorrhagic complications are common, thrombosis may also occur in pediatric APL.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 114-119"},"PeriodicalIF":0.0,"publicationDate":"2024-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000317/pdfft?md5=b8b79b6dc8378e6d78d2a5cc80d6a083&pid=1-s2.0-S2468124524000317-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140406810","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}

{"title":"Improving outcomes of hematopoietic stem cell transplant for leukemia in children and young adults in resource-limited setting","authors":"Garima Nirmal ,&nbsp;Subhashish Paul ,&nbsp;Vaibhav Chadha ,&nbsp;Shreyasi Das ,&nbsp;Mohit Chaudhary ,&nbsp;Manju Joseph ,&nbsp;Bharti Sharma ,&nbsp;Himshikha Yadav ,&nbsp;K.K. Swathymon ,&nbsp;Iskandarov Kamol ,&nbsp;Gaurav Kharya","doi":"10.1016/j.phoj.2024.02.006","DOIUrl":"10.1016/j.phoj.2024.02.006","url":null,"abstract":"<div><h3>Introduction</h3><p>Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative approach in patients with relapsed and high-risk leukemia. This retrospective analysis aimed to investigate outcomes and risk factors associated with HSCT in children and young adults with hematological malignancies in a resource-limited setting.</p></div><div><h3>Methods</h3><p>We retrospectively evaluated 48 pediatric and young adult patients diagnosed with hematological malignancies who underwent HSCT at our institution between April 2017 and Jan 2023.</p></div><div><h3>Result</h3><p>The median age of the cohort was 10 years (6 months - 21 years), and the majority of patients underwent transplants for acute lymphoblastic leukemia (ALL) (n = 24; 50 %) and acute myeloid leukemia (n = 18; 37.5%). Median time to neutrophil and platelet engraftment were 15 days (range 9–28) and 18 days (range 9–40), respectively. One patient had primary graft failure. Cytomegalovirus reactivation occurred in 21 patients (43.8%). Seventeen patients received escalated donor lymphocyte infusion (DLI). With a median follow-up of 902 days (52–2490), the probability of event free survival and overall survival (OS) was 65.9% and 69.4%. OS for lymphoid and myeloid malignancies were 64.7% and 75.2%, respectively. Kaplan-Meier probabilities of OS for patients in first complete remission (CR), CR2, CR3, or with refractory disease were 80%, 76.2%, 0%, and 40%, respectively (p = 0.02). OS of the patients undergoing matched sibling donor (n = 17) or haploidentical HSCT (n = 31) was 70.6% and 69%, respectively (p = 0.989).</p></div><div><h3>Conclusions</h3><p>Our study demonstrates excellent outcomes of patients with hematological malignancies undergoing allogeneic HSCT with similar outcomes in HLA-identical sibling donors and haploidentical first-degree family donors. Prophylactic DLI might be considered in patients with high-risk leukemia to prevent relapse, including ALL.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 105-113"},"PeriodicalIF":0.0,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000111/pdfft?md5=c28127a570508f1c4114db9ea4c7e717&pid=1-s2.0-S2468124524000111-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140276960","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}

{"title":"An uncommon inborn error of immunity in an adolescent with Hodgkin lymphoma and bronchiectasis","authors":"Sangeetha Ramdas ,&nbsp;Sidharth Totadri ,&nbsp;Priyanka Medhi ,&nbsp;Elanthenral Sigamani ,&nbsp;Arun Kumar Arunachalam ,&nbsp;Leni Grace Mathew","doi":"10.1016/j.phoj.2024.03.008","DOIUrl":"10.1016/j.phoj.2024.03.008","url":null,"abstract":"<div><h3>Background</h3><p>Individuals with inborn errors of immunity (IEI) have an increased risk of developing malignancies compared to their peers. We report a case of Hodgkin <u>l</u>ymphoma in an adolescent with CD27 deficiency.</p></div><div><h3>Case report</h3><p>A 15-year-old girl presented with cervical swelling and breathlessness for 3 days. Her past history was remarkable, with a history of recurrent respiratory infections. On examination, she had grade 2 clubbing, bilateral cervical lymphadenopathy, hepatosplenomegaly, and bilateral coarse crepitations. Biopsy showed overlapping immunomorphological features of classic Hodgkin lymphoma (HL), with features intermediate between diffuse large B-cell lymphoma and HL. A staging PET-CT revealed a stage III disease and bronchiectatic changes in bilateral lungs. The serum immunoglobulin levels showed hypogammaglobulinemia. Next generation sequencing demonstrated a homozygous missense variant in the CD27 gene (c.319C&gt;T; p.Arg107Cys). She was treated with ABVD/COPDac chemotherapy along with supportive care. She is currently 16 months post-treatment.</p></div><div><h3>Conclusion</h3><p>CD 27 deficiency is a rare IEI with a common variable immunodeficiency phenotype and a high propensity to develop lymphomas. Clinical suspicion, early detection, and management are warranted to prevent complications and mortality.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 3","pages":"Pages 125-128"},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000202/pdfft?md5=e50cbebf6fa8609f912f426c85a76377&pid=1-s2.0-S2468124524000202-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140275089","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}

{"title":"Emergency management of a 13-year-old patient with primary mediastinal B cell lymphoma: Extracorporeal membrane oxygenation and superior vena cava stent prior to chemotherapy","authors":"Salvador R. Maffei ,&nbsp;Gary Stapleton ,&nbsp;Katherine Doane ,&nbsp;James Thomas ,&nbsp;M Hossein Tcharmtchi ,&nbsp;Julienne Brackett ,&nbsp;Saleh Bhar","doi":"10.1016/j.phoj.2024.03.010","DOIUrl":"https://doi.org/10.1016/j.phoj.2024.03.010","url":null,"abstract":"<div><h3>Background</h3><p>Primary mediastinal B cell lymphoma (PMBCL) is a rare type of non-Hodgkin's lymphoma, and prompt diagnosis and initiation of chemotherapy are necessary to limit compression of cardiovascular structures.</p></div><div><h3>Case report</h3><p>A 13-year-old patient was diagnosed with PMBCL, resulting in acute hypoxemic respiratory failure and cardiogenic shock with clinical pericardial tamponade. Chemotherapy was initiated after veno-arterial extracorporeal membrane oxygenation and subsequent endovascular stenting of the superior vena cava (SVC) to optimize cardiac output due to malignant SVC syndrome.</p></div><div><h3>Conclusion</h3><p>We discuss the challenges of diagnosis and emergency management of pediatric patients with PMBCL and review the existing relevant literature for SVC syndrome secondary to PMBCL.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 3","pages":"Pages 129-132"},"PeriodicalIF":0.0,"publicationDate":"2024-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000299/pdfft?md5=3055232a31419eafdc7570941430d2f9&pid=1-s2.0-S2468124524000299-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140621924","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}

{"title":"Patient-related factors and outcome of retinoblastoma in Calabar, Nigeria: A single-center, retrospective study","authors":"Elizabeth D. Nkanga ,&nbsp;Anthony C. Nlemadim ,&nbsp;Mattan Arazi ,&nbsp;Dennis G. Nkanga ,&nbsp;Roseline E. Duke ,&nbsp;Ido D. Fabian ,&nbsp;Essemfon D. Nkanga ,&nbsp;Friday A. Odey ,&nbsp;Martin M. Meremikwu","doi":"10.1016/j.phoj.2024.03.007","DOIUrl":"10.1016/j.phoj.2024.03.007","url":null,"abstract":"<div><h3>Background</h3><p>Retinoblastoma is associated with mortality in resource-poor nations due to disparities and poor access to treatment. The aim was to determine the relationships between patient-related factors and clinical outcomes of retinoblastoma in a tertiary hospital in Nigeria.</p></div><div><h3>Material and methods</h3><p>It was a retrospective study of all children diagnosed and treated for retinoblastoma from January 2017 through December 2022. Information obtained from their records included bio-socioeconomic data, symptoms, lag time from initial symptoms, staging, treatment, and survival outcome.</p></div><div><h3>Results</h3><p>Fifty-three patients, aged 6–88 months on first hospital presentation were recruited. There were 29 (54.7%) females. Twenty (37.7%) patients died. The majority were the last child of their parents (62.3%) with a low socioeconomic class (86.8%) and lived in rural areas (50.9%). The median (interquartile) age at diagnosis [24 (18–36) months, <em>p</em> = 0.005] and lag time [13 (6–20) months, <em>p</em> = 0.274] were lower in those who survived than in those who died. The prevalence of bilateral disease (20.8%, <em>p</em> <strong>=</strong> 0.002), brain metastasis (22.6%, <em>p</em> <strong>&lt;</strong> 0.001), stage IV disease (18.9%, <em>p</em> <strong>=</strong> 0.01) and relapse (34%, <em>p</em> <strong>&lt;</strong> 0.001) was higher among the patients who died. The median (interquartile) overall survival (OS) was 22 (11.8–32.2) months with a 1-year OS of 63%. Treatment with only chemotherapy [HR 4.76 (95% CI: 1.7–13.1)], incomplete chemotherapy [HR 5.61 (95% CI: 1.3–24.7)], relapse [HR 5.98 (95% CI: 1.4–25.9)] and eye surgery delayed after 3 chemotherapy cycles [HR 8.22 (95% CI: 1.1–62.2)] were predictors of mortality.</p></div><div><h3>Conclusion</h3><p>Most patients with retinoblastoma arrived at our treatment center approximately 14 months following the first symptom. Most (84.9%) presented with proptosis. The majority were of a low social class (86.8%), had a secondary level of education only (47.2%), and lived in rural areas (50.9%). The 3-year overall survival was 29%.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 87-94"},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000196/pdfft?md5=e4c830646754795f877ed0907e3dc1e1&pid=1-s2.0-S2468124524000196-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140275035","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}

{"title":"Pediatric inflammatory multisystem syndrome in a patient with Hodgkin lymphoma: A case report","authors":"Carlos Julian Díaz-Torres ,&nbsp;Irina Katia Cano Flores ,&nbsp;Julio A. Poterico","doi":"10.1016/j.phoj.2024.03.009","DOIUrl":"10.1016/j.phoj.2024.03.009","url":null,"abstract":"<div><h3>Background</h3><p>The inflammatory state of Hodgkin lymphoma can generate increases in inflammatory markers that can sometimes be attributed to an infection in these immunosuppressed patients. During the COVID-19 pandemic, the diagnosis and treatment of patients with hematological malignancies was complicated by the presence of SARS-CoV2. It could range from an asymptomatic presentation to a multisystem inflammatory syndrome known as the Pediatric inflammatory multisystem syndrome (PIMS).</p></div><div><h3>Case report</h3><p>We present the case of a girl who, during the COVID-19 pandemic, was treated at our institution for lymphadenopathy and persistent fever. The febrile syndrome was attributed to intercurrent infection; however, despite antimicrobial coverage, fever persisted, and inflammatory markers increased. Although SARS-CoV2 was not detected in the samples, PIMS was clinically suspected. Treatment with human immunoglobulin and acetylsalicylic acid was administered. An improvement in the inflammatory parameters was observed, which allowed ruling out an opportunistic infection and initiating chemotherapy.</p></div><div><h3>Conclusion</h3><p>A patient diagnosed with lymphoma and presenting with PIMS could have a synergic interaction of both conditions, resulting in an adverse outcome.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 95-100"},"PeriodicalIF":0.0,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000214/pdfft?md5=fcc97a4d35714b17da085869ada28f48&pid=1-s2.0-S2468124524000214-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140274894","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}

{"title":"A unique case series of pediatric autoimmune hemolytic anemia","authors":"Sanghamitra Ray ,&nbsp;Anuradha Rai ,&nbsp;Manish Kumar ,&nbsp;Diganta Saikia","doi":"10.1016/j.phoj.2024.03.002","DOIUrl":"10.1016/j.phoj.2024.03.002","url":null,"abstract":"<div><h3>Background</h3><p>Autoimmune hemolytic anemia (AIHA) is a group of hematological disorders where there is autoantibody mediated destruction of red blood cells. It can be life threatening if not appropriately treated. Early diagnosis and work up and timely multipronged management is the key to success.</p></div><div><h3>Case report</h3><p>We report four cases of diverse etiology - one each of post SARS-CoV-2 AIHA, idiopathic AIHA, drug-induced AIHA and common variable immunodeficiency (CVID) associated Evans syndrome. All were treated with steroids as the first line agent while the child with CVID required additional immunosuppressive therapy.</p></div><div><h3>Conclusion</h3><p>This case series re-emphasizes the need to look for diverse etiologies in AIHA. The role of whole exome sequencing is discussed for a definitive diagnosis if accessible in selected cases.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 78-81"},"PeriodicalIF":0.0,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000147/pdfft?md5=8a162d2e563334b3cbd5712070d71b6e&pid=1-s2.0-S2468124524000147-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140279321","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}

{"title":"Isosexual precocious pseudopuberty during mitotane treatment in a child with adrenocortical carcinoma: A case report","authors":"Maria Riedmeier ,&nbsp;Sonir Antonini ,&nbsp;Clemens Benoit ,&nbsp;Cheri L. Deal ,&nbsp;Fassnacht Martin ,&nbsp;Bonald C. Figueiredo ,&nbsp;Elmas Nazli Gonc ,&nbsp;Christoph Härtel ,&nbsp;Jan Idkowiak ,&nbsp;Max Kurlbaum ,&nbsp;Ronald de Krijger ,&nbsp;Raul C. Ribeiro ,&nbsp;Jaydira del Rivero ,&nbsp;Paul-Gerhardt Schlegel ,&nbsp;Lester D.R. Thompson ,&nbsp;Bilgehan Yalcin ,&nbsp;Verena Wiegering","doi":"10.1016/j.phoj.2024.03.005","DOIUrl":"10.1016/j.phoj.2024.03.005","url":null,"abstract":"<div><h3>Background</h3><p>Mitotane is employed as adjuvant therapy in managing adrenocortical carcinoma in pediatric patients. While various adverse effects, such as estrogen-like manifestations, are well-documented in adults, there is limited knowledge regarding pediatric-specific toxicity. This report details an uncommon case of isosexual precocious pseudopuberty induced during childhood due to the estrogen-like effects of mitotane.</p></div><div><h3>Case report</h3><p>A 2.8-year-old female diagnosed with adrenocortical carcinoma (pT4 pN0 M0) underwent adjuvant treatment with mitotane and cytotoxic chemotherapy following incomplete resection (tumor stage III). Approximately eight months into mitotane treatment, she exhibited signs of puberty (Tanner stage 2), including progressive breast development, uterine enlargement, vaginal discharge, and an advancement of bone age by nearly two years. Gonadotrophin-dependent puberty and endogenous estrogen production were ruled out. The precocious pseudopuberty was attributed to previously reported estrogen-like effects of mitotane therapy. Subsequent administration of the aromatase inhibitor anastrozole in combination with mitotane led to a reduction in clinical signs of puberty.</p></div><div><h3>Conclusion</h3><p>Monitoring for estrogen-like effects of mitotane is crucial, particularly in pre-pubertal children, to avert potentially irreversible changes associated with precocious pseudopuberty. Aromatase inhibitors may serve as a prompt therapeutic option, enabling the continuation of mitotane treatment.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 74-77"},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000172/pdfft?md5=bb12fece58d29e51f39003b70aca4599&pid=1-s2.0-S2468124524000172-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140276979","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}

{"title":"An unusual association of deletion of SMARCB1 in a patient with intracranial yolk sac tumor: A case-report","authors":"A. Gupte ,&nbsp;E. Al-Antary ,&nbsp;K. Regling ,&nbsp;W.J. Kupsky ,&nbsp;D. Altinok ,&nbsp;C. Koschmann ,&nbsp;S. Camelo-Piragua ,&nbsp;K. Bhambhani","doi":"10.1016/j.phoj.2024.03.004","DOIUrl":"10.1016/j.phoj.2024.03.004","url":null,"abstract":"<div><h3>Background</h3><p>Deletion of <em>SMARCB1</em>/loss of INI is a well-known association in atypical rhabdoid teratoid tumors (ATRT) in the brain, rhabdoid tumors in the kidney, and less common tumors, including sinonasal INI1 deficient carcinoma, gastric undifferentiated carcinoma, undifferentiated uterine sarcomas, and poorly differentiated chordomas.</p></div><div><h3>Case report</h3><p>We describe homozygous deletion of the <em>SMARCB1</em> gene in a patient diagnosed with pineal yolk sac tumor, which is a rare entity. The association highlights the importance of INI1 staining when the clinical course is not progressing as expected and raises a critical management question: should this rare entity be treated aggressively, like ATRT, versus the conventional approach to intracranial yolk sac tumor?</p></div><div><h3>Conclusion</h3><p>This case highlights the importance of INI1 staining in pediatric primitive central nervous system tumors as some germ cell markers are expressed in rhabdoid tumors at the stem cell level, implicating the germ cell origin of ATRT, which can complicate the diagnosis.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 2","pages":"Pages 82-86"},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000160/pdfft?md5=e5ff084ee88c8ecda39db3215871a0a5&pid=1-s2.0-S2468124524000160-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140280739","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}