Pediatric Hematology Oncology Journal最新文献_第4页

Juvenile myelomonocytic leukemia masquerading as Langerhans cell histiocytosis: An immuno-morphologic dilemma 伪装成朗格汉斯细胞组织细胞增生症的幼年髓单核细胞白血病：免疫形态学难题

Pediatric Hematology Oncology Journal Pub Date : 2024-09-10 DOI: 10.1016/j.phoj.2024.09.002

Kala Gnanasekaran Kiruthiga , Sarita Verma Kokane , Kannan Subramanian , Avinash Pradhan , Ravi Godbole

{"title":"Juvenile myelomonocytic leukemia masquerading as Langerhans cell histiocytosis: An immuno-morphologic dilemma","authors":"Kala Gnanasekaran Kiruthiga , Sarita Verma Kokane , Kannan Subramanian , Avinash Pradhan , Ravi Godbole","doi":"10.1016/j.phoj.2024.09.002","DOIUrl":"10.1016/j.phoj.2024.09.002","url":null,"abstract":"<div><h3>Background</h3><p>Non-neoplastic, reactive proliferation of Langerhans cells is observed in leukemias, pseudo-lymphomas, carcinomas, etc. Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative neoplasm with a few overlapping clinical features to Langerhans cell histiocytosis (LCH). JMML involving the lymph nodes may show the proliferation of Langerhans cells.</p></div><div><h3>Case report</h3><p>A two year old boy presented with fever, hepatosplenomegaly and elevated total leukocyte count with monocytosis. Bone marrow revealed dysplasia in erythroids and myeloids. Axillary lymph node showed sheets of macrophages in sinuses and paracortical areas (S100, CD68 and CD 1a positive) admixed with eosinophils, mimicking LCH. Molecular analysis revealed somatic heterozygous, missense mutation in PTPN11 exon 3, a known pathogenic hot spot mutation in JMML.</p></div><div><h3>Conclusion</h3><p>The treatment and prognosis of JMML and LCH are different. JMML may have a clinical and morphological overlap with LCH and hence can be misdiagnosed. This paper highlights the similarities and differences between the two diseases with a case illustration.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 267-270"},"PeriodicalIF":0.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000767/pdfft?md5=43f40bbf610c4051192f16e37e3244aa&pid=1-s2.0-S2468124524000767-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142243679","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

Mucor thriving on iron in beta thalassemia major: A case of rhino-orbital mucormycosis 重型地中海贫血症患者的黏菌血症：一例鼻眶粘孢子菌病

Pediatric Hematology Oncology Journal Pub Date : 2024-09-10 DOI: 10.1016/j.phoj.2024.09.003

Dhaarani Jayaraman , Harshavardhan Mahalingam , Naga Geetha Rani Mangam , Swati Narasimhan , Padmasani Venkat Ramanan , K. Stephen Sudhakar , Prasanna Kumar S , Banu Keerthana , Manu Vidhya Harikumar , Anupama Jyoti Kindo , T.K. Shruthi , Niranjan Ragavan , Julius Xavier Scott

引用次数: 0

Editorial Board Information 编辑委员会信息

Pediatric Hematology Oncology Journal Pub Date : 2024-09-01 DOI: 10.1016/S2468-1245(24)00069-X

引用次数: 0

Prenatally detected adrenal immature teratoma: A case report and review of literature 产前发现的肾上腺未成熟畸胎瘤：病例报告和文献综述

Pediatric Hematology Oncology Journal Pub Date : 2024-08-29 DOI: 10.1016/j.phoj.2024.08.004

Nishkala Rao , Amrit Kaur , Arunkumar A.R. , Prakruthi S.K. , Vinay Jadhav , Suma M.N.

引用次数: 0

Unmasking Evans syndrome: A rare presentation of Schimke immune-osseous dysplasia 揭开埃文斯综合征的面纱：席姆克免疫骨发育不良症的罕见表现

Pediatric Hematology Oncology Journal Pub Date : 2024-08-17 DOI: 10.1016/j.phoj.2024.08.003

Swathi Krishna, Purva Kanvinde, Ritika Khurana, Minnie Bodhanwala, Sangeeta Mudaliar

{"title":"Unmasking Evans syndrome: A rare presentation of Schimke immune-osseous dysplasia","authors":"Swathi Krishna, Purva Kanvinde, Ritika Khurana, Minnie Bodhanwala, Sangeeta Mudaliar","doi":"10.1016/j.phoj.2024.08.003","DOIUrl":"10.1016/j.phoj.2024.08.003","url":null,"abstract":"<div><h3>Background</h3><p>Evans syndrome is an autoimmune condition that manifests as two or more autoimmune cytopenia. We present a case of Evans syndrome diagnosed with an underlying skeletal dysplasia; Schimke immune-osseous dysplasia (SIOD). The condition is characterized by spondyloepiphyseal dysplasia, progressive nephropathy, and T-cell immunodeficiency with cytopenia. Notably, our patient did not exhibit any signs of renal involvement.</p></div><div><h3>Case report</h3><p>A five-and-a-half-year-old female child presented with a short history of bleeding manifestations along with a history of poor weight and height gain. She was subsequently diagnosed with Evans syndrome secondary to an underlying SMARCAL1 mutation, which could be well controlled with oral steroids.</p></div><div><h3>Conclusion</h3><p>SIOD is a rare multisystem disorder affecting the skeletal, renal, immune, and vascular systems. Autoimmune cytopenia was the chief presentation of our patient. Such entities should be suspected in patients with growth failure, bone deformities, and hematological involvement. Early genetic testing will help to reduce disease-related comorbidities and aid in rationalizing treatment strategies.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 250-254"},"PeriodicalIF":0.0,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000652/pdfft?md5=329bfa59485f181b7f3426969d2b1d7d&pid=1-s2.0-S2468124524000652-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142040810","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

Autoimmune hemolytic anemia in children 儿童自身免疫性溶血性贫血

Pediatric Hematology Oncology Journal Pub Date : 2024-08-10 DOI: 10.1016/j.phoj.2024.08.002

Dinesh Chandra , Varun Capoor , Ayoniza Maitri , Rahul Naithani

引用次数: 0

Unusual cause of haemolytic anaemia: Glucose phosphate isomerase deficiency 溶血性贫血的不寻常原因：葡萄糖磷酸异构酶缺乏症

Pediatric Hematology Oncology Journal Pub Date : 2024-08-09 DOI: 10.1016/j.phoj.2024.08.001

Mukesh Dhankar, Piali Mandal, Robin Singh

{"title":"Unusual cause of haemolytic anaemia: Glucose phosphate isomerase deficiency","authors":"Mukesh Dhankar, Piali Mandal, Robin Singh","doi":"10.1016/j.phoj.2024.08.001","DOIUrl":"10.1016/j.phoj.2024.08.001","url":null,"abstract":"<div><h3>Introduction</h3><p>Glucose phosphate isomerase (GPI) deficiency is a rare autosomal recessive disorder that causes hereditary nonspherocytic hemolytic anemia (HNSHA). It is caused by homozygous or compound heterozygous mutation of the GPI gene on chromosome 19q13. Approximately 57 GPI mutations have been reported at the molecular level.</p></div><div><h3>Case report</h3><p>A 4-years and 6-month-old boy presented with progressive pallor along with multiple blood transfusion requirements since four months of age. He had hemolytic anemia associated with macrocytosis, reticulocytosis, neutropenia, and hyperbilirubinemia. Whole-exome sequencing showed that he carried a specific variant in the GPI gene, denoted as c.1040G > A p.Arg347His, which is a homozygous autosomal recessive inherited pathogenic mutation found in exon 12.</p></div><div><h3>Conclusion</h3><p>This report highlights the clinical features and molecular etiology of an Indian patient with GPI deficiency, a rare cause of hereditary hemolytic anemia. A specific variant in the GPI gene was identified through whole-exome sequencing, which is linked to HNSHA. Patients with GPI deficiency require medical management during childhood to monitor for potential complications and prevent hemolytic crises. With optimal management, patients with GPI deficiency can lead a relatively healthy life with normal expectations of growth and development.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 283-286"},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000639/pdfft?md5=fb06472d52e70f8c690372f8d883447d&pid=1-s2.0-S2468124524000639-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142272663","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

Autosomal dominant multicentric infantile myofibromatosis: A case report 常染色体显性多中心性婴儿肌纤维瘤病：病例报告

Pediatric Hematology Oncology Journal Pub Date : 2024-07-31 DOI: 10.1016/j.phoj.2024.07.007

Jessica Justus Kurian, Megan R. Lyle

{"title":"Autosomal dominant multicentric infantile myofibromatosis: A case report","authors":"Jessica Justus Kurian, Megan R. Lyle","doi":"10.1016/j.phoj.2024.07.007","DOIUrl":"10.1016/j.phoj.2024.07.007","url":null,"abstract":"<div><h3>Background</h3><p>Infantile myofibromatosis (IM) is a rare disorder of benign fibrous tumors, where severity and prognosis depend on the location of tumors, particularly if visceral organs are affected. Most cases of IM are sporadic. However, some familial cases of multicentric IM have been reported, primarily involving genes <em>PDGFRB</em> and <em>NOTCH3</em>.</p></div><div><h3>Case report</h3><p>We describe the clinical features and clinical course of two African American siblings with autosomal dominant multicentric IM caused by a novel mutation in the platelet-derived growth factor receptor β (<em>PDGFRB</em>) gene, c.1679C > T, resulting in p.Pro560Leu. This mutation was inherited from their mother, who was an asymptomatic carrier.</p></div><div><h3>Conclusion</h3><p>The <em>PDGFRB</em> gene mutation, c.1679C > T, is a novel mutation that causes multicentric IM with an autosomal dominant inheritance pattern. It is difficult to determine whether chemotherapy regimens are effective or whether tumor development and recession proceed along their natural course despite medical intervention.</p></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"9 4","pages":"Pages 231-234"},"PeriodicalIF":0.0,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2468124524000627/pdfft?md5=7eeff7e765809b5297309cd0b8a33079&pid=1-s2.0-S2468124524000627-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141985161","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

Voxelotor (GBT440) in pediatric sickle cell disease: A review Voxelotor（GBT440）在小儿镰状细胞病中的应用：综述

Pediatric Hematology Oncology Journal Pub Date : 2024-07-31 DOI: 10.1016/j.phoj.2024.07.006

Sri Lakshmi Jamalapur , Alexander K. Glaros , Yaddanapudi Ravindranath

引用次数: 0

Homozygous hemoglobin Lepore disease in a child: A case report 儿童同型血红蛋白莱波尔病：病例报告

Pediatric Hematology Oncology Journal Pub Date : 2024-07-23 DOI: 10.1016/j.phoj.2024.07.005

Rimjhim Sonowal , Aditi Das , Atanu Kumar Dutta , Nihar Ranjan Mishra

引用次数: 0