Urachal rhabdomyosarcoma is a rare entity with a remarkably poor prognosis. Here we report on a 2-year-old male who presented with abdominal pain, fatigue, and urinary frequency. Imaging and ...subsequent surgical pathology confirmed urachal primary embryonal rhabdomyosarcoma. Our patient underwent upfront surgical resection with adjuvant chemoradiation per Children's Oncology Group protocol D9803. He is doing well 15 months after diagnosis.
Extrarenal, extracranial malignant rhabdoid tumors (MRT) are uncommon malignancies with poor prognoses that may be diagnostically challenging. Reports of soft tissue MRTs in children are rare. For ...this reason, there are no standard treatment protocols. Historically, an aggressive multimodal approach has been taken. Here, we present a case of metastatic superficial pelvic MRT in a 16-year-old girl who remains disease-free after aggressive multi-modal therapy.
Background
Posttherapy imaging studies can provide reassurance or induce anxiety regarding risk of recurrence for patients and their families. In some cases, it is difficult to determine if imaging ...findings represent posttreatment changes or residual disease. Equivocal radiographic findings can occur due to therapy‐related inflammation or residual, inactive soft tissue masses, but it is unknown if such findings indicate an increased likelihood of local recurrence. The aim of this study was to assess the value of initial posttherapy scans for predicting local relapse in patients with Ewing sarcoma (EWS) or rhabdomyosarcoma (RMS) who received radiotherapy (RT) for local control. These findings are critical to inform clinicians’ surveillance recommendations and ability to accurately counsel patients and their families.
Procedure
The primary endpoint was time to local progression (LP). Patients were classified as having posttherapy scans that were “positive” (residual disease within the RT field), “negative” (no evidence of residual disease within the RT field), or “equivocal” (no determination could be made). The value of initial posttreatment scans for predicting LP was assessed using positive predictive value (PPV) and negative predictive value (NPV).
Results
Negative imaging findings (n = 51) had an NPV of 88%, and positive imaging findings (n = 1) had a PPV of 100%. When equivocal findings (n = 16) were categorized with negative results (i.e., positive vs. equivocal/negative), the NPV was 90%. When equivocal findings were categorized with positive results (equivocal/positive vs. negative), the PPV was 12%.
Conclusion
Equivocal findings within the RT field on end‐of‐therapy imaging studies indicate no higher risk of local recurrence than negative findings. These results may contribute to appropriate surveillance schedules and accurate counseling of patients with RMS and EWS who have received RT for local control.
Cardiac angiosarcoma (AS) is an extremely rare, malignant vascular tumor with <10 cases reported in the pediatric literature. Prognosis is dismal with overall survival often <1 year from initial ...diagnosis. In this report, we present the case of a 10-year-old boy with metastatic cardiac AS who is currently alive and is the longest pediatric survivor of metastatic cardiac AS reported in the literature. This is the only published pediatric case to successfully use a combination of surgical resection, conventional chemotherapy, radiation and targeted therapies including bevacizumab and pazopanib for metastatic cardiac AS.
Ewing sarcoma is a small round blue cell malignancy arising from bone or soft tissue and most commonly affects adolescents and young adults. Metastatic and relapsed Ewing sarcoma have poor outcomes ...and recurrences remain common. Owing to the poor outcomes associated with advanced disease and the need for a clear research strategy, the Children's Oncology Group Bone Tumor Committee formed the New Agents for Ewing Sarcoma Task Force to bring together experts in the field to evaluate and prioritize new agents for incorporation into clinical trials. This group's mission was to evaluate scientific and clinical challenges in moving new agents forward and to recommend agents and trial designs to the Bone Tumor Committee. The task force generated a framework for vetting prospective agents that included critical evaluation of each drug by using both clinical and non-clinical parameters. Representative appraisal of agents of highest priority, including eribulin, dinutuximab, cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitors, anti-angiogenic tyrosine kinase inhibitors, and poly-ADP-ribose polymerase (PARP) inhibitors, is described. The task force continues to analyze new compounds by using the paradigm established.
Background
Brachytherapy (BT) delivers highly conformal radiation and spares surrounding tissues, which may limit late effects in pediatric, adolescent, and young adult (AYA) patients. We aimed to ...characterize trends in BT use for this population in the United States, focusing on patients with rhabdomyosarcoma (RMS).
Methods
The National Cancer Database was queried to identify patients ≤ 21 who were treated for solid tumor malignancies in the United States from 2004 to 2016. We obtained disease, treatment, and outcome data for patients treated with BT, in particular for RMS.
Results
99 506 pediatric and AYA patients met study inclusion. Of these, 22 586 (23%) received radiation therapy (external beam radiation therapy EBRT and/or BT) and 240 (0.2%) received BT. Among patients treated with BT, 139 (58%) underwent surgery and 58 (24%) received EBRT. A total of 3836 patients were treated for RMS during this period. Of these, 2531 (66%) received any radiation and 37 (1%) received BT (EBRT + BT in 3, BT in 34). Of patients treated with BT for RMS, 28 (76%) underwent surgery + BT. Survival data were available for 31 patients treated with BT for RMS. With a median follow‐up of 63 months, overall survival was 100% for patients with RMS of a favorable site treated with BT.
Conclusions
BT is rarely used to treat pediatric and AYA patients in the United States. Patients treated with BT for RMS experienced favorable survival, suggesting that this approach may not compromise oncologic outcomes and warrants further study as a therapeutic option in pediatric and AYA patients, specifically in RMS.
Sertoli‐Leydig cell tumors (SLCTs) are rare ovarian neoplasms in pediatric patients. More exceedingly rare are SLCTs that also contain heterologous rhabdomyosarcoma (RMS) elements. For these ...patients, there is no standardized treatment. We report four cases of pediatric SLCT with heterologous RMS elements that were successfully treated with surgical resection and adjuvant chemotherapy. All four patients are alive and remain in remission.
Background
Castleman disease (CD) is an uncommon lymphoproliferative disorder that is rare in pediatric populations; the literature describing this population is sparse. We sought to describe ...pediatric CD, including unicentric CD (UCD) and human herpes virus‐8 (HHV8)‐negative multicentric CD (MCD), in a multi‐institutional cohort.
Methods
We retrospectively reviewed 24 patients, aged 0 to 26 years at diagnosis, who were diagnosed with CD between January 1, 2005, and May 16, 2017, at two tertiary children's hospitals. Demographic and clinical data were collected.
Results
Most patients (75%, 18/24) presented with UCD. All patients with MCD were HHV8‐negative. The most common histopathologic variant was hyaline vascular (75%, 18/24). Plasma cell variant occurred in 33% (2/6 95% confidence intervals (CI), 4–78%) of patients with HHV8‐negative MCD and 17% (3/18 95% CI, 4–41%) of patients with UCD. Systemic symptoms were present in 4 of 6 of patients with HHV8‐negative MCD and 8 of 18 of patients with UCD. Anemia and laboratory inflammation occurred in both UCD and MCD patients, with nonsignificantly higher rates of anemia and elevated C‐reactive protein in MCD patients. All but two UCD patients underwent gross total resection as definitive therapy. Among HHV8‐negative MCD patients, a combination of resection, chemotherapy, and immunotherapy was used. No UCD patients and three of six HHV8‐negative MCD patients experienced disease progression/relapse prior to lasting remission. There were no deaths.
Conclusion
Pediatric patients with CD most commonly have unicentric, hyaline vascular variant disease. Pediatric patients with both UCD and MCD commonly have systemic inflammation and, despite risk of progression/relapse in MCD patients, ultimately have excellent survival.
The detection of tumor-specific nucleic acids from blood increasingly is being used as a method of liquid biopsy and minimal residual disease detection. However, achieving high sensitivity and high ...specificity remains a challenge. Here, we perform a direct comparison of two droplet digital PCR (ddPCR)-based detection methods, circulating plasma tumor RNA and circulating plasma tumor DNA (ptDNA), in blood samples from newly diagnosed Ewing sarcoma patients. First, we developed three specific ddPCR-based assays to detect EWS-FLI1 or EWS-ERG fusion transcripts, which naturally showed superior sensitivity to DNA detection on in vitro control samples. Next, we identified the patient-specific EWS-FLI1 or EWS-ERG breakpoint from five patient tumor samples and designed ddPCR-based, patient-specific ptDNA assays for each patient. These patient-specific assays show that although plasma tumor RNA can be detected in select newly diagnosed patients, positive results are low and statistically unreliable compared with ptDNA assays, which reproducibly detect robust positive results across most patients. Furthermore, the unique disease biology of Ewing sarcoma enabled us to show that most cell-free RNA is not tumor-derived, although cell-free-DNA burden is affected strongly by tumor-derived DNA burden. Here, we conclude that, even with optimized highly sensitive and specific assays, tumor DNA detection is superior to RNA detection in Ewing sarcoma patients.
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