Pediatric Hematology Oncology Journal最新文献_第6页

Graft failure post allogeneic hematopoietic stem cell transplant in pediatric and young adults at a single centre in N. India 同种异体造血干细胞移植后移植失败的儿童和年轻人在印度北部的一个中心

Pediatric Hematology Oncology Journal

Pub Date : 2025-06-01 Epub Date: 2025-06-04 DOI: 10.1016/j.phoj.2025.100465

Vaibhav Chadha, Garima Nirmal, Nikhil Gupta, Shruti Verma, Eby P. Baby, Gaurav Kharya

Background

Graft failure (GF) is a rare complication post hematopoietic stem cell transplant (HSCT) and failure to achieve a stable engraftment leads to increased risk of morbidity and mortality.

Procedure

We performed a retrospective observational study, on a cohort of patients transplanted from January 2019 to November 2024 to analyse potential risk factors for GF. All consecutive patients from 1 till 21 years of age who underwent allogeneic HSCT during the study period were included. Univariate analysis was done to determine the risk factors for GF. Overall survival (OS) was calculated using the Kaplan-Meier method and the differences in subgroups were assessed by log-rank test.

Results

336 patients between 1 and 21 years of age underwent allogeneic HSCT, out of which 16 (4.76 %) experienced GF. Eleven (68.75 %) had primary graft failure (PGF) and 5 (31.25 %) secondary graft failure (SGF). Univariate analysis of risk factors contributing to GF showed that cryopreservation of stem cell product significantly increased the risk of GF, which was 14.63 % (6/41) in cryopreserved infused product vs 3.38 % (10/290) in freshly infused product, P value=0.001. Given the small number of patients suffering graft failure, it was not possible to conclusively establish by multivariate analysis the relevance of other factors. At a median follow up of 794 days (22–2920), overall survival (OS) of patients with GF was significantly lower as compared to non-GF cohort (38.1 % vs 76.1 %, P value = 0.004).

Conclusion

We concluded that infusion of cryopreserved stem cell product remains a significant risk factor for GF which subsequently reflects poor OS, it was not possible to clearly define the impact of other variables on GF. Based on this analysis, moving ahead, we intend to change the policy to use freshly harvested stem cell products for all our allogeneic HSCT recipients.

移植失败（GF）是造血干细胞移植（HSCT）后罕见的并发症，不能实现稳定的移植会增加发病率和死亡率的风险。我们对一组2019年1月至2024年11月移植的患者进行了回顾性观察研究，以分析GF的潜在危险因素。所有在研究期间连续接受同种异体造血干细胞移植的患者，年龄从1岁到21岁。单因素分析确定GF的危险因素。总生存期（OS）采用Kaplan-Meier法计算，亚组间差异采用log-rank检验。结果336例1 ~ 21岁的患者接受了同种异体造血干细胞移植，其中16例（4.76%）发生GF。原发性移植物衰竭（PGF） 11例（68.75%），继发性移植物衰竭（SGF） 5例（31.25%）。单因素分析显示，干细胞产品冷冻保存显著增加GF的风险，冷冻输注的产品为14.63%(6/41)，新鲜输注的产品为3.38% (10/290)，P值=0.001。由于移植物衰竭的患者数量较少，因此不可能通过多变量分析确定其他因素的相关性。在中位随访794天（22-2920天）时，GF患者的总生存率（OS）明显低于非GF患者（38.1% vs 76.1%， P值= 0.004）。结论：输注冷冻保存的干细胞产品仍然是GF的重要危险因素，这随后反映了不良的OS，其他变量对GF的影响无法明确定义。基于这一分析，下一步，我们打算改变政策，为所有同种异体造血干细胞移植受者使用新鲜收获的干细胞产品。

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引用次数: 0

Co-occurrence of ovarian Yolk Sac Tumor and pancreatic solid pseudopapillary neoplasm in a pediatric patient: A case report 小儿卵巢卵黄囊肿瘤合并胰腺实性假乳头状肿瘤1例报告

Pediatric Hematology Oncology Journal

Pub Date : 2025-06-01 DOI: 10.1016/j.phoj.2025.100457

A. Roggero , L. Piro , D. Paoloni , F. Palo , S. Avanzini , V. Capra , P. De Marco , S. Sorrentino , E. Arkhangelskaya , J. Ferro , V.G. Vellone , M. Conte

Background

Multiple malignant neoplasms in pediatric patients are rare, posing diagnostic and therapeutic challenges. This case report details a 12-year-old girl with a Yolk Sac Tumor (YST) found to have a Solid Pseudopapillary Neoplasm (SPN) of the pancreas, highlighting management complexities.

Case report

A 12-year-old girl presented with pelvic pain and dysuria. Imaging revealed a right ovarian mass, confirmed as YST. A partial ovariectomy was performed. Persistent abdominal pain led to further investigation, revealing a pancreatic lesion and residual ovarian mass. Multidisciplinary management included salpingo-oophorectomy and distal pancreatectomy, achieving complete tumor resection. Genetic testing, including Whole Exome Sequencing of 400 cancer predisposition genes, found no significant variants.

Conclusion

The synchronous occurrence of YST and SPN in pediatric patients, without pathogenic variants, is extremely rare. Management involved surgery, chemotherapy for YST, and individualized SPN treatment. Long-term follow-up is essential due to the malignancy potential of both tumors.

背景：小儿多发恶性肿瘤非常罕见，这给诊断和治疗带来了挑战。本病例报告详细描述了一名12岁女孩的卵黄囊肿瘤（YST），发现胰腺有实性假乳头状肿瘤（SPN），突出了治疗的复杂性。病例报告：一名12岁女孩以盆腔疼痛和排尿困难表现。影像显示右侧卵巢肿块，确认为YST。行部分卵巢切除术。持续腹痛导致进一步检查，发现胰腺病变和卵巢残余肿块。多学科治疗包括输卵管卵巢切除术和远端胰腺切除术，实现肿瘤完全切除。基因测试，包括400个癌症易感性基因的全外显子组测序，没有发现显著的变异。结论小儿YST和SPN同时发生，无致病变异，极为罕见。治疗包括手术、YST化疗和个体化SPN治疗。由于两种肿瘤的恶性潜能，长期随访是必要的。

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引用次数: 0

Administration of high dose methotrexate monitoring a single serum methotrexate level at 72 hours 给予高剂量甲氨蝶呤监测72小时单个血清甲氨蝶呤水平

Pediatric Hematology Oncology Journal

Pub Date : 2025-06-01 Epub Date: 2025-05-21 DOI: 10.1016/j.phoj.2025.100456

Saksham Singh , Prakruthi Kaushik , A.R. Arun Kumar , Nuthan Kumar , Shalaka Mahajan

Background

When administering high dose Methotrexate (HD-MTX), in children with high-risk Acute lymphoblastic leukemia (ALL), serial monitoring of serum Methotrexate (MTX) levels till they are less than <0.4 μmol/L at 42 hrs is regarded as standard of care in avoiding HD-MTX toxicity. We studied the feasibility of administering HD-MTX in children with high-risk Acute lymphoblastic leukemia (ALL), with a single monitoring level of serum MTX level at 72 h.

Materials and methods

This is a retrospective study from patients treated at the Department of Paediatric Oncology from January to December 2019 at a regional cancer centre in South India. Patients aged <15 years with diagnosis of B (high risk) or T lineage Acute lymphoblastic leukemia (ALL) and Lymphoblastic Non-Hodgkin lymphoma (NHL) who received HDMTX were included in the study. A solitary serum MTX level was done at 72 h after starting the infusion. The most common side effects of HD-MTX were noted and correlated with age, sex, grade of nutrition, dose of Methotrexate (3g versus 5g) and Methotrexate levels at 72 h (<0.05 versus >/ = 0.05 μmol/L). Data was entered in excel sheet and analyzed by appropriate statistical tests. P < 0.05 was taken as significant.

Results

Children who received higher dose of MTX (5g/m²) were found to have significantly more episodes of diarrhea, thrombocytopenia and hyperbilirubinemia as opposed to 3g/m2 (p = 0.02,0.043 and 0.035 respectively). There was no significant difference in clinical toxicities in those whose 72-h serum MTX levels were </>0.05 μmol/L. However, patients with delayed excretion had significantly higher levels of serum transaminases and increase in creatinine.

Conclusion

The results of our study showed that prolonged hydration along with extended leucovorin rescue with single level of serum MTX at 72 h is feasible, but the impact on efficacy is unknown and this way of HD-MTX administration needs to be validated in larger studies along with comparisons with levels at other time points.

背景：高风险急性淋巴细胞白血病（ALL）患儿在给予高剂量甲氨蝶呤（HD-MTX）治疗时，连续监测42小时血清甲氨蝶呤（MTX）水平至低于0.4 μmol/L，被视为避免HD-MTX毒性的标准护理。我们研究了在高风险急性淋巴细胞白血病（ALL）儿童中使用HD-MTX的可行性，在72 h时监测血清MTX水平。材料和方法这是一项回顾性研究，研究对象是2019年1月至12月在印度南部地区癌症中心儿科肿瘤科接受治疗的患者。年龄15岁，诊断为B（高风险）或T系急性淋巴母细胞白血病（ALL）和淋巴母细胞非霍奇金淋巴瘤（NHL）并接受HDMTX治疗的患者纳入研究。在开始输注后72小时单独测定血清MTX水平。HD-MTX最常见的副作用与年龄、性别、营养等级、甲氨蝶呤剂量（3g vs 5g）和72 h时甲氨蝶呤水平（0.05 vs 0.05 μmol/L）相关。将数据输入到excel表格中，并通过适当的统计检验进行分析。P & lt;0.05为显著性。结果MTX高剂量组（5g/m2）腹泻、血小板减少和高胆红素血症发生率显著高于3g/m2组（p分别为0.02、0.043和0.035）。72h血清MTX水平为<；/>；0.05 μmol/L组的临床毒性无显著差异。然而，延迟排泄的患者血清转氨酶水平明显升高，肌酐升高。结论我们的研究结果表明，延长水合时间并延长亚叶酸素抢救在72 h时单水平血清MTX是可行的，但对疗效的影响尚不清楚，这种HD-MTX给药方式需要在更大规模的研究中进行验证，并与其他时间点的水平进行比较。

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引用次数: 0

Pseudo-Thrombotic Microangiopathy (Pseudo-TMA): a rare manifestation of vitamin B12 deficiency in a child 假性血栓性微血管病（假性tma）：儿童维生素B12缺乏的一种罕见表现

Pediatric Hematology Oncology Journal

Pub Date : 2025-06-01 Epub Date: 2025-05-20 DOI: 10.1016/j.phoj.2025.100455

Mohd Arif, Nazish Malik

Vitamin B12 is vital for physiological functions, and its deficiency is relatively frequent in individuals residing in lower-middle-income countries (LMIC). Vitamin B12 deficiency can manifest with mild or severe symptoms and we report an unusual presentation of Vitamin B12 deficiency in an 11-year-old vegan child. The child presented with pseudo-thrombotic microangiopathy (Pseudo-TMA), marked by hemolytic anemia, thrombocytopenia, and schistocytosis. A thorough history, examination, investigations and peripheral smear review confirmed severe macrocytic anemia with pancytopenia, hypersegmented neutrophils, schistocytes and reticulocytopenia. Management included stabilization with blood transfusion, parenteral vitamin B12, and oral multivitamins. A favorable response highlighted the importance of careful clinical evaluation in correctly diagnosing a rare presentation of a hematologic disorder in a child.

维生素B12对生理功能至关重要，在中低收入国家（LMIC）的个体中，维生素B12缺乏的情况相对常见。维生素B12缺乏症可以表现为轻微或严重的症状，我们报告一个不寻常的维生素B12缺乏症的表现在一个11岁的素食儿童。患儿表现为假性血栓性微血管病（假性tma），以溶血性贫血、血小板减少和血吸虫病为特征。全面的病史、检查、调查和外周涂片检查证实严重的巨细胞性贫血伴全血细胞减少、超节段性中性粒细胞、裂细胞和网状细胞减少。治疗方法包括输血、静脉注射维生素B12和口服多种维生素。一个良好的反应强调了认真的临床评估在正确诊断罕见的血液系统疾病的儿童的重要性。

引用次数: 0

A novel SPTB variant in a Cambodian child with hereditary spherocytosis without a family history 一种新的SPTB变异在柬埔寨儿童遗传性球形红细胞增多症无家族史

Pediatric Hematology Oncology Journal

Pub Date : 2025-06-01 Epub Date: 2025-04-19 DOI: 10.1016/j.phoj.2025.04.005

Chean Sophâl, Kim Leanghay, Chin Soey

Background

Hereditary spherocytosis (HS) is a form of congenital hemolytic anemia resulting from red cell membrane protein deficiency. Most cases (75 %) will have a family history of HS, but for those with no family history, there may be a delay in diagnosis.

Case report

Herein, we report a 3 ½ years old boy of Cambodian origin who presented with anemia, jaundice, and hepato-splenogaly with no family history of hemolysis. The blood film showed spherocytosis and polychromasia with a negative direct agglutination test (DAT). Genomic DNA analysis of the SPTB gene (NM_001355436.2) revealed a novel, unreported heterozygous variant, c.1720dup, (p.Glu574GlyfsTer3), confirming as de novo variant and caused HS. Treatment focuses on supportive care, including folic acid supplementation and transfusion as needed.

Conclusion

This is the first case report of HS resulting from a novel heterozygous SPTB variant in Cambodia. HS should be considered in the differential diagnosis of hemolytic anemia, regardless of the patient's ethnic background.

背景：遗传性球形红细胞增多症（HS）是一种由红细胞膜蛋白缺乏引起的先天性溶血性贫血。大多数病例（75%）有HS家族史，但对于那些没有家族史的人，诊断可能会延迟。病例报告其中，我们报告了一个3岁半的柬埔寨裔男孩，他表现为贫血，黄疸和肝脾肿大，没有溶血家族史。血膜显示球形红细胞增多和多色增多，直接凝集试验（DAT）阴性。对SPTB基因（NM_001355436.2）的基因组DNA分析发现了一种新的、未报道的杂合变异，c.1720dup, p.Glu574GlyfsTer3，确认为新变异并引起HS。治疗的重点是支持性护理，包括叶酸补充和必要的输血。结论这是柬埔寨首例由新型SPTB杂合变异引起的HS病例。无论患者的种族背景如何，在溶血性贫血的鉴别诊断中应考虑HS。

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引用次数: 0

Challenges in prenatal diagnosis and genetic counselling in compound heterozygosity for beta thalassemia and hereditary persistence of fetal hemoglobin (HPFH) 地中海贫血复合杂合性与胎儿血红蛋白遗传持续性产前诊断与遗传咨询面临的挑战

Pediatric Hematology Oncology Journal

Pub Date : 2025-06-01 Epub Date: 2025-06-04 DOI: 10.1016/j.phoj.2025.100460

Dolat Singh Shekhawat , Shagufta Anjum , Nayan Tada , Charu Sharma , Pratibha Singh , Kuldeep Singh

Background

Elevated levels of Fetal hemoglobin (HbF) in pregnancy can raise significant challenges in diagnosis and approach. We share an interesting clinical scenario to discuss the importance of increased HbF during pregnancy and effective genetic counselling.

Case report

A 29 years old primigravida presented at 16 weeks for routine antenatal care. Her HbF levels were elevated at 14.5 % and high performance liquid chromatography (HPLC) of her partner revealed HbA2 levels of 5.6 % and HbF levels of 0.8 %. HPLC findings suggested a possible diagnosis of either heterozygosity for delta-beta thalassemia or hereditary persistence of HbF in the mother and beta thalassemia trait in the father. Hemoglobinopathy gene panel sequencing was performed for the father, mother and fetus, while Multiplex Ligation-Dependent Probe Amplification (MLPA) testing was conducted for the mother and fetus. The HBB gene sequencing revealed a heterozygous c.27_28insG mutation in both the father and fetus. The MLPA test on the mother found a heterozygous deletion of the HBB to HBG1 (HBB, HBD, HBBP, and HBG1) region, also present in the fetus. This indicated that the fetus had both a point mutation and a deletion in a compound heterozygous state, suggesting a high likelihood of being affected by beta thalassemia major or intermedia. Comprehensive genetic counselling was done. After understanding the genetic scenario, the couple chose to terminate the pregnancy.

Conclusion

HPLC can efficiently screen for hemoglobinopathies, but comprehensive molecular investigations are essential for precise diagnosis and optimal medical care. Practical genetic counselling aids couples in making informed decisions about future pregnancies.

背景：妊娠期胎儿血红蛋白（HbF）水平升高会给诊断和治疗方法带来重大挑战。我们分享一个有趣的临床场景来讨论妊娠期间HbF增加的重要性和有效的遗传咨询。病例报告一例29岁初产妇在16周时出现常规产前护理。她的HbF水平升高了14.5%，她的伴侣的高效液相色谱（HPLC）显示HbA2水平为5.6%，HbF水平为0.8%。HPLC结果提示可能诊断为- β地中海贫血的杂合性或母亲的HbF遗传持久性和父亲的-地中海贫血特征。对父亲、母亲和胎儿进行血红蛋白病基因面板测序，对母亲和胎儿进行多重结扎依赖探针扩增（MLPA）检测。HBB基因测序结果显示，父亲和胎儿均存在c.27_28insG杂合突变。母亲的MLPA检测发现HBB到HBG1 （HBB， HBD， HBBP和HBG1）区域的杂合缺失，也存在于胎儿中。这表明胎儿在复合杂合状态下同时存在点突变和缺失，表明极有可能受到重度或中度β地中海贫血的影响。进行了全面的遗传咨询。在了解了遗传情况后，这对夫妇选择了终止妊娠。结论高效液相色谱法可有效筛查血红蛋白病变，但全面的分子研究对准确诊断和优化医疗护理至关重要。实用的遗传咨询帮助夫妇对未来怀孕做出明智的决定。

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引用次数: 0

Factor X deficiency presenting as an intracranial bleed in a young infant X因子缺乏表现为婴儿颅内出血

Pediatric Hematology Oncology Journal

Pub Date : 2025-06-01 Epub Date: 2025-05-19 DOI: 10.1016/j.phoj.2025.100454

Sanyukta Sandeep Ghodke , Rishab Bhurat , Dhaarani Jayaraman , Sri Gayathri Shanmugam , Febe Renjitha Suman , Ramya Uppuluri , Rajakumar Padur Sivaraman , Julius Xavier Scott

Inherited Factor X deficiency is a rare bleeding disorder. It is inherited in autosomal recessive manner. The genotype and the phenotype are variable. The management is tailored as per individual patient. We hereby report an infant with severe Factor X deficiency who presented with recurrent intracranial bleeding needing prophylactic replacement of Factor X in the form of Fresh Frozen Plasma (FFP). She is currently 18 months of age and is having age-appropriate growth and development.

遗传性X因子缺乏症是一种罕见的出血性疾病。它以常染色体隐性遗传方式遗传。基因型和表现型是可变的。管理是根据每个病人量身定制的。我们在此报告一个严重的因子X缺乏婴儿，他表现为复发性颅内出血，需要以新鲜冷冻血浆（FFP）的形式预防性替代因子X。她现在18个月大，正在进行与年龄相适应的生长和发育。

引用次数: 0

Plasmablastic lymphoma presenting as sino-nasal mass in a child: a case report 儿童浆母细胞淋巴瘤表现为鼻鼻肿块1例

Pediatric Hematology Oncology Journal

Pub Date : 2025-06-01 Epub Date: 2025-04-11 DOI: 10.1016/j.phoj.2025.04.002

Arjun Kachhwaha, Kavya Ronanki, Prisla Maria Dalton, Nikhil Nagpal, Uttam Kumar Nath

Background

Plasmablastic lymphoma (PBL) is a very aggressive non-Hodgkin lymphoma that mostly occurs in immunocompromised individuals, especially those affected with human immunodeficiency virus (HIV) infection, and is rarely reported in children.

Case presentation

An 8-year-old female case of HIV on highly active antiretroviral therapy (HAART) for the last 2 years presented with epistaxis, and a left sino-nasal mass for the last 6 months and a rapidly progressing left orbital mass for one month. Endoscopic debulking surgery revealed the diagnosis of PBL. She was managed with CODOX-M (cyclophosphamide, vincristine, doxorubicin, high-dose methotrexate) alternating with IVAC (ifosfamide, etoposide, and high-dose cytarabine) for 2 cycles each. The patient achieved complete morphological remission, confirmed on positron emission tomography-computed tomography (PET/CT) and local radiation was then given. HAART was withheld temporarily during the CODOX-M cycle owing to significant drug interaction and liver toxicity but continued during IVAC. The patient has been in remission for the 13 months following completion of therapy.

Conclusion

PBL is an aggressive disease that requires intensive chemotherapy. It is challenging to monitor adverse effects and drug-drug interaction while on chemotherapy and HAART together. Close monitoring and follow-up are needed, as over half of patients will relapse post-remission.

背景：浆母细胞淋巴瘤（PBL）是一种侵袭性很强的非霍奇金淋巴瘤，主要发生在免疫功能低下的个体，尤其是感染人类免疫缺陷病毒（HIV）的个体，在儿童中很少报道。病例介绍：一名8岁女性HIV患者，接受高效抗逆转录病毒治疗（HAART） 2年，表现为鼻出血，左侧鼻中肿块持续6个月，左侧眼眶肿块持续1个月。内镜下减积手术诊断为PBL。患者接受CODOX-M（环磷酰胺、长春新碱、阿霉素、高剂量甲氨蝶呤）和IVAC（异环磷酰胺、依托泊苷和高剂量阿糖胞苷）交替治疗，各2个周期。经正电子发射断层扫描-计算机断层扫描（PET/CT）证实，患者形态学完全缓解，然后给予局部放疗。由于显著的药物相互作用和肝毒性，HAART在CODOX-M周期内暂时停止，但在IVAC期间继续进行。患者在治疗结束后的13个月里病情得到缓解。结论pbl是一种侵袭性疾病，需要强化化疗。在化疗和HAART同时进行时，监测不良反应和药物-药物相互作用具有挑战性。需要密切监测和随访，因为超过一半的患者在缓解后会复发。

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引用次数: 0

Cytokine production patterns in patients with sickle cell disease and avascular necrosis of the femoral head 镰状细胞病和股骨头缺血性坏死患者的细胞因子产生模式

Pediatric Hematology Oncology Journal

Pub Date : 2025-06-01 Epub Date: 2025-05-31 DOI: 10.1016/j.phoj.2025.100462

Fawaz Azizieh , Raj Raghupathy , Renu Gupta , Akmal Zahra , Hanan Al-Abboh , Huda Alsahhaf , Rubina Fatima , Adekunle Adekile

Background

An imbalance in pro- and anti-inflammatory cytokines has been suggested to contribute to tissue damage in sickle disease (SCD) following recurrent ischemia, which leads to several complications including avascular necrosis (AVN) of the femoral head. This study aimed to investigate the profiles of cytokines produced by mitogen-stimulated peripheral blood mononuclear cells (PBMC) in SCD patients with or without AVN.

Methods

The patients were recruited from the outpatient hematology clinics of Mubarak al-Kabeer Hospital, Kuwait. They were screened for AVN using magnetic resonance imaging (MRI). Levels of peripheral blood mononuclear cell (PBMC)-secreted cytokines were estimated in 31 AVN-negative and 16 AVN-positive SCD patients. Four pro-inflammatory cytokines (IL-1−β, IL-6, IL-17A, and TNF-α) and three anti-inflammatory cytokines (IL-4, IL-10, and TGF-β) were assayed in a multiplex ELISA.

Results

Mitogen-activated PBMCs from the patients who were AVN-positive secreted significantly higher levels of the pro-inflammatory cytokines TGF-β, and IL-4 compared to AVN-negative patients. Similarly, three ratios (IL-17A/IL-4, TNF-α/IL-4, and, IL-17/TGF-β) were significantly higher in AVN-negative, compared to AVN-positive patients, thus showing a pro-inflammatory bias in the former. The multivariate pattern plot shows that points of AVN-positive data are clustered closely, separating them from the AVN-negative data.

Conclusion

Our data suggest that it may be worthwhile to explore levels and ratios of pro- to anti-inflammatory cytokines produced by mitogen-stimulated PBMC in patients with SCD with regards to prognosis and outcomes. The multivariate pattern analysis of seven cytokines revealed a pattern that can be used as a predictive tool to delineate those patients that may develop AVN.

研究背景：促炎性和抗炎性细胞因子的失衡可能导致镰状病（SCD）复发性缺血后的组织损伤，从而导致股骨头无血管坏死（AVN）等并发症。本研究旨在探讨有丝分裂原刺激的外周血单个核细胞（PBMC）在伴有或不伴有AVN的SCD患者中产生的细胞因子的特征。方法选取科威特Mubarak al-Kabeer医院血液科门诊患者。采用磁共振成像（MRI）筛查AVN。测定了31例avn阴性和16例avn阳性SCD患者外周血单核细胞（PBMC）分泌的细胞因子水平。四种促炎细胞因子（IL-1−β、IL-6、IL-17A和TNF-α）和三种抗炎细胞因子（IL-4、IL-10和TGF-β）采用多重ELISA检测。结果与avn阴性患者相比，avn阳性患者smitogen活化的PBMCs分泌的促炎因子TGF-β和IL-4水平显著升高。与avn阳性患者相比，avn阴性患者IL-17A/IL-4、TNF-α/IL-4、IL-17/TGF-β 3个比值明显高于avn阳性患者，可见avn阴性患者有促炎倾向。多元模式图显示，avn阳性数据的点紧密聚集，将它们与avn阴性数据分开。结论我们的数据表明，探讨促丝裂原刺激的PBMC产生的促炎性因子和抗炎性因子的水平和比例与SCD患者的预后和结局可能是值得的。7种细胞因子的多变量模式分析揭示了一种模式，可以作为预测工具来描述那些可能发展为AVN的患者。

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引用次数: 0

Triple – negative essential thrombocythemia in a child: A diagnostic challenge 儿童三阴性原发性血小板增多症：一个诊断挑战

Pediatric Hematology Oncology Journal

Pub Date : 2025-06-01 Epub Date: 2025-05-13 DOI: 10.1016/j.phoj.2025.100453

Neha Goel, Deepak Kumar Jha, Sanghamitra Ray, Sumit Mehndiratta, Nidhi Chopra, Amitabh Singh

Background

Essential thrombocythemia (ET) is a well-defined entity that is characterized by the presence of splenomegaly, uncontrolled hematopoiesis, and is independent of control of growth factors. The annual incidence of ET in children has been estimated to be around 0.004–0.11 per 100,000 children aged between 0 and 16 years of age.

Case report

A 10-year-old girl child presented with hemetemesis and was found to have extreme thrombocytosis. There was no significant family history, and her parents' hemogram was within normal limits. The child was diagnosed as a case of 'triple negative' (JAK2-V617F, CALR and MPL mutation negative) essential thrombocythemia on whole exome sequencing. Since the child was asymptomatic, no treatment was initiated. The child has been followed up every two weeks for up to six months, and continued to have asymptomatic thrombocytosis.

Conclusion

The case increases awareness amongst pediatric hematologists regarding this rare entity in childhood. This case also reemphasizes the importance of detailed work up in order to reach an accurate diagnosis.

原发性血小板增多症（ET）是一种定义明确的实体，其特征是脾肿大，造血不受控制，并且独立于生长因子的控制。据估计，0至16岁儿童ET的年发病率约为0.004-0.11 / 10万。病例报告一个10岁的女孩提出了呕血和发现有极端的血小板增多。无明显家族史，父母血象在正常范围内。根据全外显子组测序，该儿童被诊断为“三阴性”（JAK2-V617F、CALR和MPL突变阴性）原发性血小板减少症。由于该儿童无症状，没有开始治疗。该儿童每两周随访长达6个月，并继续有无症状的血小板增多。结论：该病例提高了儿科血液学家对儿童罕见血液病的认识。这个病例也再次强调了详细工作的重要性，以达到准确的诊断。

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引用次数: 0