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Background: Spinal cord compression (SCC) is a severe complication in pediatric patients with relapsed, progressing, or refractory solid malignancies. This study aims to report the presentation, treatment, and role of proactive radiation therapy in these patients., Methods: This retrospective study reviewed 28 patients with relapsed, progressing, or refractory solid tumors who were referred for radiation therapy consultation due to potential (impending) or actual spinal cord compression (pSCC and aSCC, respectively) over a 12-year period. Collected data included disease characteristics, details of SCC events, management approaches, and patient outcomes., Results: Among the 28 patients, 34 SCC events were identified (18 pSCC, 16 aSCC), with neuroblastoma being the most frequent diagnosis (46.4%). No significant differences were noted between pSCC and aSCC groups in pre-event imaging follow-up, age distribution, or malignancy status at SCC presentation. However, aSCC patients exhibited significantly more symptoms at diagnosis. Both groups received SCC-targeted therapy, with no significant differences in functional outcomes, event-free survival (EFS), or overall survival (OS). Pain assessments post treatment showed comparable improvements in both groups., Conclusions: Proactive radiotherapy for pSCC did not yield superior outcomes compared to reactive treatment for aSCC. Given the limited benefits observed, proactive RT should be considered on an individual basis, balancing potential QoL improvements against treatment burdens. Further research in larger cohorts is necessary to refine therapeutic strategies for SCC in pediatric oncology., (© 2024 The Author(s). Pediatric Blood & Cancer published by Wiley Periodicals LLC.)

Background: To expand the current knowledge of DICER1 syndrome and to propose criteria for genetic testing based on experience at a pediatric tertiary care center., Procedure: This study involved a retrospective chart review of the 78 patients (47 probands and 31 family members) seen in the Cancer Genetics Program at The Hospital for Sick Children (SickKids) who were offered genetic testing for DICER1., Results: Of 47 probands offered genetic testing for DICER1, 46 pursued testing: 11 (23.9%) carried a pathogenic variant and one proband (2.1%) carried a missense variant of uncertain significance with evidence for pathogenicity. Thirty-one family members of variant-positive probands were offered testing: eight of the 25 who agreed to testing carried their familial variant (32.0%). Overall, 20 patients were identified to have a variant in DICER1 (eight males, 12 females). Of these, 13 (65.0%) presented with clinical manifestations associated with the syndrome. The most common lesions were pleuropulmonary blastoma (PPB) (five of 20 patients, 25.0%) and pineoblastoma (three of 20 patients, 15.0%). The average age at which individuals were diagnosed with a primary neoplasm was 5.2 years (range 0.8-20 years, median 3.0). Surveillance at our institution, with a median follow-up time of 23 months, has identified PPB in two asymptomatic individuals. These lesions were identified at early stages, thus potentially reducing treatment-related morbidity and mortality., Conclusion: This study further delineates the DICER1 syndrome phenotype and demonstrates the feasibility of a DICER1 syndrome surveillance protocol for the early detection of tumors., (© 2017 Wiley Periodicals, Inc.)

To study the prevalence of pediatric cancer patients who have underlying inherited bone marrow failure syndrome (IBMFS), we retrospectively reviewed the medical records of newly diagnosed pediatric cancer patients at The Hospital for Sick Children from June 2009 to May 2010, focusing on clinical, laboratory, and treatment-related findings which may indicate underlying IBMFS. We found five (1.8%) patients out of 276 who had two or more findings suggestive of IBMFS. We conclude that a small fraction of patients with cancer have clinical features that indicate investigations to rule out underlying IBMFSs. A prospective study is needed to determine their prevalence., (© 2016 Wiley Periodicals, Inc.)

Anaplastic sarcoma of kidney (ASK) is a rare neoplasm recently associated with DICER1 mutations. We report a child with germline DICER1 mutation who developed ASK in preexisting septated renal cysts, which were likely cystic nephroma. From age 2.5 to 6 years, sonographic imaging illustrated changes in the size and number of renal cysts, followed at age 8.8 years by a mass, pathologically an ASK. Lung cysts resected in infancy were diagnosed retrospectively as pleuropulmonary blastoma. Both tumors had acquired somatic DICER1 mutations. Ultrasonographic evolution of renal cysts to ASK has not previously been documented. Children with both pulmonary and renal cysts are candidates for DICER1 mutation testing., (© 2016 Wiley Periodicals, Inc.)

Background: Malignant pleural effusion (MPE) and ascites (MA) negatively impact quality of life of palliative patients. Treatment options are limited. This study's purpose is to examine the experience with indwelling tunneled catheters (ITCs) for management of MPE/MA in children with advanced cancer., Methods: Children with MPE/MA who underwent ITC insertion (2007-2012) were retrospectively reviewed. Clinical, procedural, complication and outcome details were analyzed., Results: PleurX® ITCs (n = 12) were inserted in eight patients (5-18 years) with sarcoma (11 MPE, 1 MA), achieving symptom relief and facilitating discharge home post ITC (median 2 days). Median survival following ITC was 51 days. There were two major complications: pain (n = 1), late site infection (n = 1), and five minor complications. Drainage ceased in four patients (pleurodesis/tumor progression). At time of death, six ITCs (five patients) were still in situ., Conclusions: ITC appears to be a safe, effective treatment for MPE/MA in advanced pediatric cancer, achieving symptomatic relief and discharge home., (© 2013 Wiley Periodicals, Inc.)

Background: The clinical implications of a diagnosis of progressive transformation of germinal centers (PTGC) in children are not well known., Methods: To better understand this entity, we conducted a retrospective review of all patients aged 0-18 years diagnosed with PTGC at our center between 1998 and 2010., Results: Twenty-nine patients were identified. Median age at diagnosis was 11.5 years, and median duration of follow-up was 2.8 years. Thirteen patients (45%) had a single episode of PTGC with no other associated features. Five patients (17%) had recurrent PTGC. Four patients (14%) had PTGC associated with Hodgkin lymphoma (HL): one preceding, two concurrent, and one subsequently developed HL. The most commonly associated HL was nodular lymphocyte-predominant HL. Seven patients (24%) had PTGC associated with immune disorders, including lupus, Castleman disease, and probable autoimmune lymphoproliferative syndrome. Overall, 15 patients (52%) had more than one lymph node biopsy. The cumulative incidence of a second biopsy after a diagnosis of PTGC was 42.3% ± 12.2% at 4 years. PTGC was PET-avid in all four patients tested., Conclusions: PTGC is a nonspecific manifestation of a variety of associated conditions. There is a small risk of subsequent HL, and a larger risk of requiring multiple biopsies for recurrent PTGC. The presence of an immune disorder should be considered in patients who present with generalized lymphadenopathy, splenomegaly, immune cytopenias, and/or progression to HL. Routine surveillance imaging may not be required. Future research should determine the optimal surveillance strategy for patients with PTGC and the indications for repeat biopsies., (Copyright © 2012 Wiley Periodicals, Inc.)

Background: Children with parameningeal rhabdomyosarcoma (PM RMS) and cranial nerve palsy (CNP) are at risk for permanent neurologic dysfunction. Clinicians often consider the use of emergent therapies such as expedited radiation and/or corticosteroids; however, there is a paucity of information describing the natural history of CNP in PM RMS. We sought to describe the clinical features of patients with PM RMS plus associated CNP and to evaluate the patient, disease, and treatment-related factors that impacted neurologic recovery., Methods: We conducted a retrospective review of PM RMS cases treated at the Hospital for Sick Children between 1985 and 2010., Results: Thirty-five children were treated for PM RMS, 19 (54%) of whom presented with CNP. Children with CNP were nine times more likely to have other high-risk features (cranial base bony erosion and/or intracranial extension) at the time of presentation than children without CNP (OR 9.6, 95% CI 1.69, 54.79, P = 0.013). In addition to commencing chemotherapy, 13 patients (68%) received expedited RT and corticosteroids, four (21%) corticosteroids alone, and two (11%) received only standard chemotherapy and RT. At last follow up of the 11 survivors, neurologic recovery was complete in five (45%), partial in five (45%), and absent in one (9%)., Conclusions: In our cohort, recovery of PM RMS associated CNP was often incomplete despite multi-modal therapy. A larger cohort of patients is required to determine the utility of emergent initiation of radiation or corticosteroids. This study will facilitate the counseling of future families on the long-term neurologic recovery CNP in PM RMS., (Copyright © 2012 Wiley Periodicals, Inc.)

Hepatocellular carcinoma (HCC) and hepatoblastoma (HB) are the most common primary tumors of liver in children. The management of patients with locally advanced, unresectable disease or those with extra-hepatic distant metastases provides substantial challenges to pediatric oncologists, hepatologists, and surgeons. Herein, we critically debate the two sides of three specific controversies: (1) the role of chemotherapy in the treatment of advanced pediatric HCC; (2) the indications for liver transplantation in children with HCC, specifically, the appropriateness of using adult Milan criteria; and (3) the role of liver trasplantation in children with unresectable HB that present with metastatic disease. Pediatr Blood Cancer 2011;56:1013-1018. © 2010 Wiley-Liss, Inc., (Copyright © 2010 Wiley-Liss, Inc.)

Background: Despite concerns regarding ionizing radiation exposures from diagnostic imaging procedures in pediatric patients, many are deemed unavoidable or even mandated by treatment protocols. A prior review at our institution found patients with lymphoma had a higher median cumulative radiation exposure (191 mSv) versus other oncology subgroups (61 mSv)., Purpose: Estimations of cumulative diagnostic radiation exposures were tabulated for 5 years from the first diagnostic scan for 30 consecutive lymphoma patients diagnosed in 2001. Each individual imaging procedure was reviewed and classified as protocol mandated or discretionary (for disease surveillance, good patient care or radiologist request)., Results: Almost all patients (28/29) received chemotherapy; one had surgery only. Individual cumulative radiation exposures ranged from 10 to 642 mSv. Over 5 years, 690 procedures were performed; 303 (44%) X-rays, 203 (29%) CTs, 157 (23%) radionucleotide, and 27 (4%) interventional procedures. Of these, 238 (34%) were protocol required and 452 (66%) discretionary (224 as part of good patient care for a co-morbid illness and 228 for evaluation of possible disease progression/surveillance). A total of 86/217 (40%) studies (including 43 CTs and 38 radionucleotide scans) were performed when the recurrence risk was low (>2 years off therapy)., Conclusions: The majority of ionizing radiation procedures in this lymphoma cohort were discretionary. Given the excellent outcome of this group and the long-term risks; rational use of discretionary surveillance procedures is necessary. Guidelines for the appropriate use of surveillance imaging based on probability of risk recurrence must be developed in order to minimize ionizing radiation exposure., (2010 Wiley-Liss, Inc.)

Background: The aim of this study was to evaluate the clinical course and outcome of children with treatment related acute myeloid leukemia (tAML) and compare them to children with primary AML (pAML)., Procedure: We retrospectively reviewed the demographic, treatment, toxicity, and outcome data of children with tAML and treatment related myelodysplastic syndrome (tMDS), treated at our institution between 1975 and 2005. We compared these parameters with matched controlled children with pAML. Finally we compared overall survival (OS) for tAML with all pAML children treated at the study era in our institution., Results: Twenty-one patients with tAML (n = 19) and tMDS (n = 2) were identified. Three years event-free survival (EFS) and OS were both 14 +/- 8%. Compared to pAML patients, tAML had a higher rate of adverse cytogenetics (P < 0.008) and inferior OS (P = 0.027) but no significant difference in treatment toxicity or death. All survivors were treated with allogeneic hematopoietic stem cell transplantation (HSCT)., Conclusions: In this population based report of pediatric tAML, outcome was poor and was related to a higher probability of poor cytogenetic features rather than excessive toxicities or inability to deliver therapy. HSCT should be considered for patients with tAML. These preliminary findings should set the stage for prospective cooperative studies., ((c) 2007 Wiley-Liss, Inc.)

Cystic partially differentiated nephroblastoma (CPDN) has low malignant potential. We report a 1-year-old with stage III CPDN of the right kidney that recurred following radical nephrectomy and chemotherapy. There was evidence of tumor spillage pre-operatively and intra-operatively. During chemotherapy the disease recurred in the omentum and the peritoneum. Pathology of the recurrent resected cysts revealed a more differentiated biphasic tumor without blastemal elements. It appears that spillage of CPDN in our patient led to dissemination of disease. Chemotherapy failed to prevent recurrence but only mature elements were present following this treatment. The intensity of therapy required to treat CPDN remains undefined., ((c) 2007 Wiley-Liss, Inc.)

Background: At the Hospital for Sick Children (HSC), we have treated Ewing sarcoma (ES) with multi-agent chemotherapy, surgery and conservative use of radiotherapy for local control. Our objective was to describe the outcome and prognostic factors associated with this strategy., Procedure: We performed a retrospective chart review of children diagnosed with ES at HSC from Feb 1984 to June 1999., Results: Seventy-two evaluable children were identified. All received chemotherapy. Local control administered was surgery (n = 37), radiation (n = 23), both (n = 10) or neither (n = 2). The 7-year EFS was 66.4%. Recurrence occurred in 23 patients, 7 locally and 16 distantly. Better EFS was associated with male gender (78.5% vs. 52.1%; P = 0.007), localised disease (77.0% vs. 39.4%; P = 0.0004), extremity primary (88.2% vs. 52.8%; P = 0.005) and non-pelvic primary (75.7% vs. 18.2%; P < 0.0001)., Conclusions: Favourable outcomes were seen for patients treated with multi-agent chemotherapy, surgery and conservative use of radiotherapy. Metastatic disease rather than local control was the major cause of failure., (Copyright 2004 Wiley-Liss, Inc.)