Pub Date : 2025-06-01DOI: 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.
{"title":"Co-occurrence of ovarian Yolk Sac Tumor and pancreatic solid pseudopapillary neoplasm in a pediatric patient: A case report","authors":"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","doi":"10.1016/j.phoj.2025.100457","DOIUrl":"10.1016/j.phoj.2025.100457","url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Case report</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100457"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144270859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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。
{"title":"Graft failure post allogeneic hematopoietic stem cell transplant in pediatric and young adults at a single centre in N. India","authors":"Vaibhav Chadha, Garima Nirmal, Nikhil Gupta, Shruti Verma, Eby P. Baby, Gaurav Kharya","doi":"10.1016/j.phoj.2025.100465","DOIUrl":"10.1016/j.phoj.2025.100465","url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Procedure</h3><div>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.</div></div><div><h3>Results</h3><div>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).</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100465"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144262187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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.
{"title":"Challenges in prenatal diagnosis and genetic counselling in compound heterozygosity for beta thalassemia and hereditary persistence of fetal hemoglobin (HPFH)","authors":"Dolat Singh Shekhawat , Shagufta Anjum , Nayan Tada , Charu Sharma , Pratibha Singh , Kuldeep Singh","doi":"10.1016/j.phoj.2025.100460","DOIUrl":"10.1016/j.phoj.2025.100460","url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Case report</h3><div>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 <em>HBB</em> 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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100460"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144270858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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.
{"title":"Cytokine production patterns in patients with sickle cell disease and avascular necrosis of the femoral head","authors":"Fawaz Azizieh , Raj Raghupathy , Renu Gupta , Akmal Zahra , Hanan Al-Abboh , Huda Alsahhaf , Rubina Fatima , Adekunle Adekile","doi":"10.1016/j.phoj.2025.100462","DOIUrl":"10.1016/j.phoj.2025.100462","url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100462"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144270856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Angiomyomatous hamartoma of lymph nodes (AMH-LN) is an uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph nodes (LN). [1]
Case report
We present a 16-year-old male who initially came to us with bilateral inguinal lymphadenopathy. Histological evaluation suggested a diagnosis of non-Hodgkin lymphoma, while immunohistochemical analysis indicated findings consistent with Castleman disease. However, further comprehensive imaging, repeated histopathological examination, and immunohistochemical studies ultimately revealed an unexpected diagnosis of angiomyomatous hamartoma (AMH) of the lymph nodes.
Conclusion
The case underscores the necessity of multidisciplinary approache to avoid misdiagnosis and unnecessary interventions in pediatric and adolescent patients presenting with lymphadenopathy. This rare benign condition highlighted the importance of careful histological evaluation in diagnosing or ruling out malignancies.
{"title":"Angiomyomatous hamartoma masquerading as lymphoproliferative disease in a teenager","authors":"Kamila Askarova , Malika Shukurova , Shaxnoz Mamadjanova","doi":"10.1016/j.phoj.2025.100459","DOIUrl":"10.1016/j.phoj.2025.100459","url":null,"abstract":"<div><h3>Background</h3><div>Angiomyomatous hamartoma of lymph nodes (AMH-LN) is an uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph nodes (LN). [1]</div></div><div><h3>Case report</h3><div>We present a 16-year-old male who initially came to us with bilateral inguinal lymphadenopathy. Histological evaluation suggested a diagnosis of non-Hodgkin lymphoma, while immunohistochemical analysis indicated findings consistent with Castleman disease. However, further comprehensive imaging, repeated histopathological examination, and immunohistochemical studies ultimately revealed an unexpected diagnosis of angiomyomatous hamartoma (AMH) of the lymph nodes.</div></div><div><h3>Conclusion</h3><div>The case underscores the necessity of multidisciplinary approache to avoid misdiagnosis and unnecessary interventions in pediatric and adolescent patients presenting with lymphadenopathy. This rare benign condition highlighted the importance of careful histological evaluation in diagnosing or ruling out malignancies.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 3","pages":"Article 100459"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144366199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-20DOI: 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.
{"title":"Pseudo-Thrombotic Microangiopathy (Pseudo-TMA): a rare manifestation of vitamin B12 deficiency in a child","authors":"Mohd Arif, Nazish Malik","doi":"10.1016/j.phoj.2025.100455","DOIUrl":"10.1016/j.phoj.2025.100455","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100455"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-19DOI: 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.
{"title":"Factor X deficiency presenting as an intracranial bleed in a young infant","authors":"Sanyukta Sandeep Ghodke , Rishab Bhurat , Dhaarani Jayaraman , Sri Gayathri Shanmugam , Febe Renjitha Suman , Ramya Uppuluri , Rajakumar Padur Sivaraman , Julius Xavier Scott","doi":"10.1016/j.phoj.2025.100454","DOIUrl":"10.1016/j.phoj.2025.100454","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100454"},"PeriodicalIF":0.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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.
{"title":"Triple – negative essential thrombocythemia in a child: A diagnostic challenge","authors":"Neha Goel, Deepak Kumar Jha, Sanghamitra Ray, Sumit Mehndiratta, Nidhi Chopra, Amitabh Singh","doi":"10.1016/j.phoj.2025.100453","DOIUrl":"10.1016/j.phoj.2025.100453","url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Case report</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":101004,"journal":{"name":"Pediatric Hematology Oncology Journal","volume":"10 2","pages":"Article 100453"},"PeriodicalIF":0.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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