Lauri-Matti Kulmala, Henri Aarnivala, Tytti Pokka, Anu Huurre, Liisa Järvelä, Sauli Palmu, Tuuli Pöyhönen, Riitta Niinimäki
Background
Thrombocytopenia is a common hematologic finding in children and adolescents. Immune thrombocytopenia (ITP) is the most common cause of this finding, but the differential diagnosis includes a growing list of genetic disorders. We aimed to report differences in phenotypes of patients with ITP, inherited platelet disorder (IPD)/primary immunodeficiency disorder (PID), and other causes, with a focus on differentiating ITP from inherited thrombocytopenia.
Procedure
This retrospective, population-based observational cohort from 2006 to 2020 involved 506 Finnish children under 16 years of age presenting with isolated thrombocytopenia.
Results
Of the 506 participants, 79.7% had ITP, 6.7% had IPD/PID, and 13.6% had other causes of thrombocytopenia. A platelet count of ≤12 × 109/L best distinguished between ITP and other reasons with a sensitivity of 60% and a specificity of 80%. Among patients with the lowest platelet count of less than 10 × 109/L, 95.9% had ITP, 3.3% had IPD/PID, and 0.8% had other causes. Severe bleeding events were reported in 20 patients (4.0%), but there were no cases of intracranial or fatal bleeding due to thrombocytopenia. Up to 50% of patients with a high suspicion of inherited thrombocytopenia remained without a specific diagnosis despite genetic testing.
Conclusions
ITP remains the most common cause of thrombocytopenia. A platelet count of ≤12 × 109/L often leads to an ITP diagnosis. Genetic disorders are rare but should be suspected in patients with persisting thrombocytopenia, especially with platelet counts constantly above 12 × 109/L, a positive family history, or atypical clinical features.
{"title":"Immune or inherited thrombocytopenia? A population-based cohort study on children and adolescents presenting with a low platelet count","authors":"Lauri-Matti Kulmala, Henri Aarnivala, Tytti Pokka, Anu Huurre, Liisa Järvelä, Sauli Palmu, Tuuli Pöyhönen, Riitta Niinimäki","doi":"10.1002/pbc.31363","DOIUrl":"10.1002/pbc.31363","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Thrombocytopenia is a common hematologic finding in children and adolescents. Immune thrombocytopenia (ITP) is the most common cause of this finding, but the differential diagnosis includes a growing list of genetic disorders. We aimed to report differences in phenotypes of patients with ITP, inherited platelet disorder (IPD)/primary immunodeficiency disorder (PID), and other causes, with a focus on differentiating ITP from inherited thrombocytopenia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Procedure</h3>\u0000 \u0000 <p>This retrospective, population-based observational cohort from 2006 to 2020 involved 506 Finnish children under 16 years of age presenting with isolated thrombocytopenia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 506 participants, 79.7% had ITP, 6.7% had IPD/PID, and 13.6% had other causes of thrombocytopenia. A platelet count of ≤12 × 10<sup>9</sup>/L best distinguished between ITP and other reasons with a sensitivity of 60% and a specificity of 80%. Among patients with the lowest platelet count of less than 10 × 10<sup>9</sup>/L, 95.9% had ITP, 3.3% had IPD/PID, and 0.8% had other causes. Severe bleeding events were reported in 20 patients (4.0%), but there were no cases of intracranial or fatal bleeding due to thrombocytopenia. Up to 50% of patients with a high suspicion of inherited thrombocytopenia remained without a specific diagnosis despite genetic testing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>ITP remains the most common cause of thrombocytopenia. A platelet count of ≤12 × 10<sup>9</sup>/L often leads to an ITP diagnosis. Genetic disorders are rare but should be suspected in patients with persisting thrombocytopenia, especially with platelet counts constantly above 12 × 10<sup>9</sup>/L, a positive family history, or atypical clinical features.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31363","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Understanding the 2020 pediatric cancer deficit: Insights from the National Childhood Cancer Registry","authors":"Jason Semprini, Erin M. Mobley","doi":"10.1002/pbc.31345","DOIUrl":"10.1002/pbc.31345","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Erin Gordon, Mirjam van den Brink, Nina van der Linden, Karen Ringwald-Smith, Breeana Gardiner, Alexia J. Murphy-Alford
Background
Optimal nutrition in pediatric oncology can influence cancer-related outcomes. To establish an understanding of nutrition practice and perceptions of best practice, we queried nutrition providers practicing in pediatric oncology care centers in high-income countries.
Methods
An electronic, multidisciplinary, cross-sectional survey of nutrition practices was conducted among pediatric oncology nutrition practitioners. Final analysis included 110 surveys from 71 unique institutions and included practitioners from Europe, the United States, Canada, Australia/New Zealand, South America, and the Middle East/Asia.
Results
The majority of institutions (97%) reported having dietitians; 72% had designated oncology dietitians. Approximately half of the practitioners (47%) reported feeling their institutions were inadequately staffed. The majority (78%) of institutions completed nutrition risk screening, but there was no consensus on specific screening practices. Half (50%) of the institutions that screened for nutrition risk did so in both inpatient and outpatient settings. The majority (80%) of institutions completed a nutrition assessment close to the time of diagnosis. Those that did not cite lack of staff and/or lack of time, lack of standardized approach, and consult only level of nutritional care as primary barriers. The most common topic of nutrition education provided to patients/families was nutrition-related symptom management (68%).
Conclusion
While most institutions reported having pediatric oncology dietitians, we found a lack of standardized practice and perceived inadequate staffing. In addition, what providers perceived to be best practice did not always align with day-to-day clinical practice. Ongoing efforts are needed to develop evidence-based guidelines, including staffing recommendations, to support specialized care in this population.
{"title":"Pediatric oncology nutritional practices in high-income countries: A survey from the International Society of Paediatric Oncology (SIOP)","authors":"Erin Gordon, Mirjam van den Brink, Nina van der Linden, Karen Ringwald-Smith, Breeana Gardiner, Alexia J. Murphy-Alford","doi":"10.1002/pbc.31353","DOIUrl":"10.1002/pbc.31353","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Optimal nutrition in pediatric oncology can influence cancer-related outcomes. To establish an understanding of nutrition practice and perceptions of best practice, we queried nutrition providers practicing in pediatric oncology care centers in high-income countries.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>An electronic, multidisciplinary, cross-sectional survey of nutrition practices was conducted among pediatric oncology nutrition practitioners. Final analysis included 110 surveys from 71 unique institutions and included practitioners from Europe, the United States, Canada, Australia/New Zealand, South America, and the Middle East/Asia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The majority of institutions (97%) reported having dietitians; 72% had designated oncology dietitians. Approximately half of the practitioners (47%) reported feeling their institutions were inadequately staffed. The majority (78%) of institutions completed nutrition risk screening, but there was no consensus on specific screening practices. Half (50%) of the institutions that screened for nutrition risk did so in both inpatient and outpatient settings. The majority (80%) of institutions completed a nutrition assessment close to the time of diagnosis. Those that did not cite lack of staff and/or lack of time, lack of standardized approach, and consult only level of nutritional care as primary barriers. The most common topic of nutrition education provided to patients/families was nutrition-related symptom management (68%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>While most institutions reported having pediatric oncology dietitians, we found a lack of standardized practice and perceived inadequate staffing. In addition, what providers perceived to be best practice did not always align with day-to-day clinical practice. Ongoing efforts are needed to develop evidence-based guidelines, including staffing recommendations, to support specialized care in this population.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142372478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Li W, Shi M, Zhou P, et al. Extramedullary infiltration in pediatric acute myeloid leukemia: Results from the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) initiative. Pediatr Blood Cancer. 2024;71(7):e31014. doi:10.1002/pbc.31014.
First, in“Figure 1 C, D”, the description of the horizontal coordinate was incorrectly labeled “days after relapse”, and the correct statement should be “Time (days)”.
Second, the header of the “Table 2” was erroneously stated as “With EMI at (n = 123)”, and the correct statement should be “With EMI at diagnosis (n = 123)”
{"title":"Correction to “Extramedullary infiltration in pediatric acute myeloid leukemia: Results from the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) initiative”","authors":"","doi":"10.1002/pbc.31333","DOIUrl":"10.1002/pbc.31333","url":null,"abstract":"<p>Li W, Shi M, Zhou P, et al. Extramedullary infiltration in pediatric acute myeloid leukemia: Results from the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) initiative. <i>Pediatr Blood Cancer</i>. 2024;71(7):e31014. doi:10.1002/pbc.31014.</p><p>First, in“Figure 1 C, D”, the description of the horizontal coordinate was incorrectly labeled “days after relapse”, and the correct statement should be “Time (days)”.</p><p>Second, the header of the “Table 2” was erroneously stated as “With EMI at (n = 123)”, and the correct statement should be “With EMI at diagnosis (n = 123)”</p><p>We apologize for these errors.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31333","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142372477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heba A. Ahmed, Elsayed Abdelkreem, Elham O. Hamed, Nagwa M. Abo Elmahassen, Mustafa Adel A. Younis
Objectives: To investigate whether (cluster of differentiation) CD40-1C>T (rs1883832) contributes to predisposition and treatment response of primary immune thrombocytopenia (pITP) in children.
Methods: A case–control study that included 100 children with newly diagnosed pITP and 50 age- and sex-matched healthy controls. CD40 rs1883832 was genotyped using TaqMan allele discrimination real-time polymerase chain reaction (PCR). Patients were categorized into responders and non-responders according to their response to corticosteroids and thrombopoietin-receptor agonists (TPO-RA) at 3-month intervals.
Results: The genotypic distribution of the CD40 rs1883832 was significantly different among cases and controls (CC 48% vs. 30%; CT 44% vs. 42%; TT 8% vs. 28%; p = .003). Compared with controls, children with newly diagnosed pITP had significantly higher C allele frequency (70% vs. 51%; odds ratio [OR] 2.2, 95% confidence interval [CI]: 1.3–3.8; p = .001). The association between C allele frequency and pITP risk was evident in females (OR 4.3, 95% CI: 2.1–8.8; p < .001), but not in males (OR 0.9, 95% CI: 0.4–2.1; p = .822). Compared with responders, the C allele frequency was significantly higher among non-responders to corticosteroids (87% vs. 66%; OR 3.4, 95% CI: 1.2–11.7; p = .012), but not to TPO-RA (92% vs. 85%; OR 2, 95% CI: 0.2–107; p = .550).
Conclusion: CD40 rs1883832 polymorphism may contribute to predisposition and response to upfront corticosteroids therapy of pediatric pITP. These findings improve our understanding of the compound pathophysiology of ITP, suggest important clinical potentials, and open the door for further research on the mechanistic role of CD40 rs1883832 in ITP development and progression.
{"title":"Frequency of CD40-1C>T polymorphism (rs1883832) and association with response to treatment in children with primary immune thrombocytopenia","authors":"Heba A. Ahmed, Elsayed Abdelkreem, Elham O. Hamed, Nagwa M. Abo Elmahassen, Mustafa Adel A. Younis","doi":"10.1002/pbc.31356","DOIUrl":"10.1002/pbc.31356","url":null,"abstract":"<p><b>Objectives</b>: To investigate whether (cluster of differentiation) <i>CD40</i>-1C>T (rs1883832) contributes to predisposition and treatment response of primary immune thrombocytopenia (pITP) in children.</p><p><b>Methods</b>: A case–control study that included 100 children with newly diagnosed pITP and 50 age- and sex-matched healthy controls. <i>CD40</i> rs1883832 was genotyped using TaqMan allele discrimination real-time polymerase chain reaction (PCR). Patients were categorized into responders and non-responders according to their response to corticosteroids and thrombopoietin-receptor agonists (TPO-RA) at 3-month intervals.</p><p><b>Results</b>: The genotypic distribution of the <i>CD40</i> rs1883832 was significantly different among cases and controls (CC 48% vs. 30%; CT 44% vs. 42%; TT 8% vs. 28%; <i>p =</i> .003). Compared with controls, children with newly diagnosed pITP had significantly higher C allele frequency (70% vs. 51%; odds ratio [OR] 2.2, 95% confidence interval [CI]: 1.3–3.8; <i>p </i>= .001). The association between C allele frequency and pITP risk was evident in females (OR 4.3, 95% CI: 2.1–8.8; <i>p</i> < .001), but not in males (OR 0.9, 95% CI: 0.4–2.1; <i>p =</i> .822). Compared with responders, the C allele frequency was significantly higher among non-responders to corticosteroids (87% vs. 66%; OR 3.4, 95% CI: 1.2–11.7; <i>p </i>= .012), but not to TPO-RA (92% vs. 85%; OR 2, 95% CI: 0.2–107; <i>p</i> = .550).</p><p><b>Conclusion</b>: <i>CD40</i> rs1883832 polymorphism may contribute to predisposition and response to upfront corticosteroids therapy of pediatric pITP. These findings improve our understanding of the compound pathophysiology of ITP, suggest important clinical potentials, and open the door for further research on the mechanistic role of <i>CD40</i> rs1883832 in ITP development and progression.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Optic pathway gliomas (OPG) are rare tumors in children. Lesion extent, visual functions, neurofibromatosis 1 (NF1), and age are factors that guide treatment. This study evaluates the clinical characteristics, treatment, and outcome of children and adolescents with OPG treated over a 31-year period in a single center.
Methods
Ninety-five patients with OPG diagnosed between January 1990 and December 2021 were retrospectively evaluated. First-line chemotherapy regimen consisted of vincristine and carboplatinum for 1 year. Radiotherapy was not used as first-line treatment and tried to be avoided in the ones who progressed after first-line treatment.
Results
Ninety-five children (44 male, 51 female) with a median age of 52 (1–216) months were evaluated. Sixty-three (66.3%) had NF1 and 10 (10,5%) diencephalic syndrome. The most common presenting symptoms were visual abnormalities and/or proptosis, nistagmus, and behavioral changes. Twenty-one (22.1%) patients with NF1 had stable disease throughout the follow-up period and received no treatment. Sixty-three of 74 patients received treatment at diagnosis and 11 due to progression during follow-up. Only one adolescent received radiotherapy at progression. Patients who progressed, received further line systemic treatment (vinblastine; bevacizumab; vincristine–cisplatinum–etoposide). Ten-year overall survival in all patients, in patients with NF1, and without NF1 were 97.2%, 98%, and 95.8% (p > .05), respectively; 10-year progression-free survival (PFS) in all patients, in patients with NF1, and without NF1 were 71.6%, 85.7%, and 54.2% (p = .001), respectively.
Conclusions
In children with symptomatic/progressive OPG, chemotherapy consisting of vincristine–carboplatinum (VC) is effective. Radiotherapy may be avoided, especially in patients with NF1.
{"title":"Optic pathway gliomas in children: Clinical characteristics, treatment, and outcome of 95 patients in a single center over a 31-year period. Can we avoid radiotherapy?","authors":"Rejin Kebudi, Ulku Miray Yildirim, Ayça İribaş, Samuray Tuncer","doi":"10.1002/pbc.31337","DOIUrl":"10.1002/pbc.31337","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Optic pathway gliomas (OPG) are rare tumors in children. Lesion extent, visual functions, neurofibromatosis 1 (NF1), and age are factors that guide treatment. This study evaluates the clinical characteristics, treatment, and outcome of children and adolescents with OPG treated over a 31-year period in a single center.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Ninety-five patients with OPG diagnosed between January 1990 and December 2021 were retrospectively evaluated. First-line chemotherapy regimen consisted of vincristine and carboplatinum for 1 year. Radiotherapy was not used as first-line treatment and tried to be avoided in the ones who progressed after first-line treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ninety-five children (44 male, 51 female) with a median age of 52 (1–216) months were evaluated. Sixty-three (66.3%) had NF1 and 10 (10,5%) diencephalic syndrome. The most common presenting symptoms were visual abnormalities and/or proptosis, nistagmus, and behavioral changes. Twenty-one (22.1%) patients with NF1 had stable disease throughout the follow-up period and received no treatment. Sixty-three of 74 patients received treatment at diagnosis and 11 due to progression during follow-up. Only one adolescent received radiotherapy at progression. Patients who progressed, received further line systemic treatment (vinblastine; bevacizumab; vincristine–cisplatinum–etoposide). Ten-year overall survival in all patients, in patients with NF1, and without NF1 were 97.2%, 98%, and 95.8% (<i>p</i> > .05), respectively; 10-year progression-free survival (PFS) in all patients, in patients with NF1, and without NF1 were 71.6%, 85.7%, and 54.2% (<i>p</i> = .001), respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In children with symptomatic/progressive OPG, chemotherapy consisting of vincristine–carboplatinum (VC) is effective. Radiotherapy may be avoided, especially in patients with NF1.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31337","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Stefan S. Bielack, Vanessa Mettmann, Stefanie Hecker-Nolting, Arndt Borkhardt, Jendrik Hardes, Leo Kager, Thekla von Kalle, Matthias Kevric, Ewa Koscielniak, Christian P. Kratz, Thomas Kühne, Michaela Nathrath, Claudia Rossig, Benjamin Sorg, Monika Sparber-Sauer, Mathias Werner, Claudia Blattmann
Background
Osteosarcoma may arise as a secondary malignancy following rhabdomyosarcoma (RMS). We utilized the Cooperative Osteosarcoma Study Group (COSS) database to better understand this association.
Patients and methods
The COSS database (1980-05/2023) was searched for patients whose osteosarcoma was preceded by RMS. Eligible patients were analyzed for patient-, tumor-, and treatment-related variables as well as outcomes.
Results
The search revealed 28 eligible osteosarcomas (27 high-grade central, one periosteal; male:female = 16:12; median age RMS 2.1 [range: 0.9–10.0] years, osteosarcoma 13.5 [7.2–29.0] years). Genetic tumor-predisposition syndromes were documented in 12 patients. One patient had had a distinct malignancy prior to RMS, two intermittently, seven following osteosarcoma. Local RMS treatment had included radiotherapy in 20/26 cases (two unknown). Secondary osteosarcoma sites were extremity 13, trunk seven, head and neck eight; 15 osteosarcomas were radiation-associated. There was only one case of primary osteosarcoma metastases. Osteosarcoma treatment included chemotherapy (27), surgery (26), or radiotherapy (2). A macroscopically complete remission of all osteosarcoma sites was achieved in 24 cases. Median follow-up was 5.8 (range: 0.5–18.4) years after osteosarcoma and 8.1 (1.0–15.4) years for 14 survivors. Actuarial 5-year overall and event-free survival were 66% (standard error 9%) and 45% (10%), respectively. Five of 14 deaths were caused by further malignancies.
Conclusion
This series offers a benchmark for patients who develop a secondary osteosarcoma after RMS. Affected patients are generally still in the pediatric age. The results obtained strongly argue for genetic predisposition testing in RMS and against therapeutic leniency in comparable situations.
{"title":"Osteosarcoma as a secondary malignancy following rhabdomyosarcoma: A report of 28 affected patients from the Cooperative Osteosarcoma Study Group (COSS)","authors":"Stefan S. Bielack, Vanessa Mettmann, Stefanie Hecker-Nolting, Arndt Borkhardt, Jendrik Hardes, Leo Kager, Thekla von Kalle, Matthias Kevric, Ewa Koscielniak, Christian P. Kratz, Thomas Kühne, Michaela Nathrath, Claudia Rossig, Benjamin Sorg, Monika Sparber-Sauer, Mathias Werner, Claudia Blattmann","doi":"10.1002/pbc.31344","DOIUrl":"10.1002/pbc.31344","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Osteosarcoma may arise as a secondary malignancy following rhabdomyosarcoma (RMS). We utilized the Cooperative Osteosarcoma Study Group (COSS) database to better understand this association.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients and methods</h3>\u0000 \u0000 <p>The COSS database (1980-05/2023) was searched for patients whose osteosarcoma was preceded by RMS. Eligible patients were analyzed for patient-, tumor-, and treatment-related variables as well as outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The search revealed 28 eligible osteosarcomas (27 high-grade central, one periosteal; male:female = 16:12; median age RMS 2.1 [range: 0.9–10.0] years, osteosarcoma 13.5 [7.2–29.0] years). Genetic tumor-predisposition syndromes were documented in 12 patients. One patient had had a distinct malignancy prior to RMS, two intermittently, seven following osteosarcoma. Local RMS treatment had included radiotherapy in 20/26 cases (two unknown). Secondary osteosarcoma sites were extremity 13, trunk seven, head and neck eight; 15 osteosarcomas were radiation-associated. There was only one case of primary osteosarcoma metastases. Osteosarcoma treatment included chemotherapy (27), surgery (26), or radiotherapy (2). A macroscopically complete remission of all osteosarcoma sites was achieved in 24 cases. Median follow-up was 5.8 (range: 0.5–18.4) years after osteosarcoma and 8.1 (1.0–15.4) years for 14 survivors. Actuarial 5-year overall and event-free survival were 66% (standard error 9%) and 45% (10%), respectively. Five of 14 deaths were caused by further malignancies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This series offers a benchmark for patients who develop a secondary osteosarcoma after RMS. Affected patients are generally still in the pediatric age. The results obtained strongly argue for genetic predisposition testing in RMS and against therapeutic leniency in comparable situations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31344","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) is a type of pediatric HLH that occurs frequently in Asia. Although immunochemotherapy based on etoposide and hormone has improved survival rates, there are still about 30% of HLH patients that do not respond. The objective of the article is to examine the efficacy and safety of programmed cell death protein 1 (PD-1) inhibitors for children with relapsed/refractory (r/r) EBV-HLH.
Methods
A retrospective case note review of four pediatric patients with r/r EBV-HLH who were treated with PD-1 inhibitors at Sun Yat-sen Memorial Hospital, Sun Yat-sen University.
Results
All four patients responded to PD-1 inhibitors and achieved partial response after their first infusion. Plasma EBV DNA copy number and HLH-related monitoring indicators decreased in all of these patients. All patients received allogeneic hematopoietic stem cell transplantation (allo-HSCT), and two were still alive at the last follow-up on December 30, 2022. Two patients died because of transplantation-related complications. Serious side effects included increased liver enzymes and edema in two patients.
Conclusion
PD-1 inhibitors are an effective salvage therapy and can provide a bridge to allo-HSCT for pediatric patients with r/r EBV-HLH. However, side effects should be monitered.
{"title":"Treatment of pediatric refractory or relapsed Epstein–Barr virus-associated hemophagocytic syndrome with PD-1 inhibitors","authors":"Shu-Yi Guo, Jian Wang, Jian-Pei Fang, Jia-Ying Lei, Xiao-Qin Wu, Kun-Yin Qiu, Dun-Hua Zhou","doi":"10.1002/pbc.31340","DOIUrl":"10.1002/pbc.31340","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) is a type of pediatric HLH that occurs frequently in Asia. Although immunochemotherapy based on etoposide and hormone has improved survival rates, there are still about 30% of HLH patients that do not respond. The objective of the article is to examine the efficacy and safety of programmed cell death protein 1 (PD-1) inhibitors for children with relapsed/refractory (r/r) EBV-HLH.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective case note review of four pediatric patients with r/r EBV-HLH who were treated with PD-1 inhibitors at Sun Yat-sen Memorial Hospital, Sun Yat-sen University.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>All four patients responded to PD-1 inhibitors and achieved partial response after their first infusion. Plasma EBV DNA copy number and HLH-related monitoring indicators decreased in all of these patients. All patients received allogeneic hematopoietic stem cell transplantation (allo-HSCT), and two were still alive at the last follow-up on December 30, 2022. Two patients died because of transplantation-related complications. Serious side effects included increased liver enzymes and edema in two patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>PD-1 inhibitors are an effective salvage therapy and can provide a bridge to allo-HSCT for pediatric patients with r/r EBV-HLH. However, side effects should be monitered.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Juri Fuchs, Lucas Rabaux-Eygasier, Fabian Ruping, Markus Kessler, Patrick Günther, Katrin Hoffmann, Zoltan Czigany, Christoph Michalski, Geraldine Hery, Arianeb Mehrabi, Sophie Branchereau
Background
There is ongoing debate regarding liver transplantation (LT) versus liver resection (LR) for locally advanced hepatoblastoma. However, comparative studies are lacking. Consequently, a significant evidence gap persists, hindering the establishment of consensus guidelines. This study aimed to compare LT and LR for locally advanced hepatoblastoma, using predefined inclusion criteria to ensure comparable intervention groups.
Methods
According to current Children's Oncology Group (COG) and SIOPEL (European Childhood Liver Tumour Study Group) recommendations, hepatoblastoma that requires LT evaluation was defined as either PRETEXT (PRE-Treatment EXTent of tumor) IV F+, POST-TEXT (POST-Treatment EXTent of tumor) IV, POST-TEXT P+, and/or POST-TEXT V+. A systematic literature search (Medline/Web-of-Science/Embase) was performed. Only patients who met the aforementioned criteria were included. Patient data were extracted individually and pooled.
Results
A total of 189 patients with locally advanced hepatoblastoma from 55 studies met the specified criteria, with 111 undergoing LT and 78 LR. There were no significant differences between the two groups in age, alpha-fetoprotein (AFP), and PRETEXT stages. Local recurrence was more common after LR (14% vs. 3% in LT, p = .008), while distant recurrence was more often observed after LT (16% vs. 5% in LR, p = .035). Overall survival (OS) and event-free survival (EFS) did not differ significantly between LT and LR (5-year OS: LT = 75.3% [95% confidence interval: 66.5–85.2], LR = 87.6% [80.4–95.6], p = .140; 5-year EFS: LT = 68.5% [59.3–79.1], LR = 71.1% [60.7–83.3], p = .700).
Conclusion
Real-life data revealed that a considerable number of patients with locally advanced hepatoblastoma underwent LR. This analysis suggests that outcomes are similar and favorable for both approaches. LR can therefore be considered an effective alternative to LT in selected cases even in locally advanced hepatoblastoma.
{"title":"Reappraisal of liver resection as an alternative to transplantation in locally advanced hepatoblastoma: A systematic review and analysis of pooled individual patient data","authors":"Juri Fuchs, Lucas Rabaux-Eygasier, Fabian Ruping, Markus Kessler, Patrick Günther, Katrin Hoffmann, Zoltan Czigany, Christoph Michalski, Geraldine Hery, Arianeb Mehrabi, Sophie Branchereau","doi":"10.1002/pbc.31339","DOIUrl":"10.1002/pbc.31339","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>There is ongoing debate regarding liver transplantation (LT) versus liver resection (LR) for locally advanced hepatoblastoma. However, comparative studies are lacking. Consequently, a significant evidence gap persists, hindering the establishment of consensus guidelines. This study aimed to compare LT and LR for locally advanced hepatoblastoma, using predefined inclusion criteria to ensure comparable intervention groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>According to current Children's Oncology Group (COG) and SIOPEL (European Childhood Liver Tumour Study Group) recommendations, hepatoblastoma that requires LT evaluation was defined as either PRETEXT (PRE-Treatment EXTent of tumor) IV F+, POST-TEXT (POST-Treatment EXTent of tumor) IV, POST-TEXT P+, and/or POST-TEXT V+. A systematic literature search (Medline/Web-of-Science/Embase) was performed. Only patients who met the aforementioned criteria were included. Patient data were extracted individually and pooled.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 189 patients with locally advanced hepatoblastoma from 55 studies met the specified criteria, with 111 undergoing LT and 78 LR. There were no significant differences between the two groups in age, alpha-fetoprotein (AFP), and PRETEXT stages. Local recurrence was more common after LR (14% vs. 3% in LT, <i>p</i> = .008), while distant recurrence was more often observed after LT (16% vs. 5% in LR, <i>p</i> = .035). Overall survival (OS) and event-free survival (EFS) did not differ significantly between LT and LR (5-year OS: LT = 75.3% [95% confidence interval: 66.5–85.2], LR = 87.6% [80.4–95.6], <i>p </i>= .140; 5-year EFS: LT = 68.5% [59.3–79.1], LR = 71.1% [60.7–83.3], <i>p </i>= .700).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Real-life data revealed that a considerable number of patients with locally advanced hepatoblastoma underwent LR. This analysis suggests that outcomes are similar and favorable for both approaches. LR can therefore be considered an effective alternative to LT in selected cases even in locally advanced hepatoblastoma.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"71 12","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31339","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142351637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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