Abstract Objective The purpose of our study is to review our 15-year experience with pediatric patients who have been diagnosed with neuroblastoma, and to determine their most frequent head and neck ...manifestations and symptoms. Study design Retrospective chart review of electronic medical record. Setting An academic, tertiary care pediatric hospital. Subjects and Methods IRB approval from the Office of Research Integrity at Children’s Mercy Hospital was obtained. The hospital tumor database was analyzed to identify patients with neuroblastoma, ganglioneuroblastoma, and esthesioneuroblastoma diagnosed between 1997 to 2012. We recorded the various clinical signs and symptoms these patients displayed at their initial presentation, focusing on patients with head and neck involvement. We then determined the relative incidence of these various findings. Results Our review yielded 118 patients diagnosed with neuroblastoma, ganglioneuroblastoma, or esthesioneuroblastoma over our 15 year study period. 7 of the 118 patients were diagnosed with primary tumors of the head and neck. Another 19 patients had metastatic head and neck involvement. For those with primary disease, presence of a neck mass and signs of Horner’s syndrome were the most common findings. For metastatic disease, craniofacial bony metastasis was the most frequent finding in our study. Conclusions Based on our data, there are a handful of findings that occur frequently in pediatric head and neck neuroblastoma. Any persistent neck mass, unexplained Horner’s syndrome, or periorbital ecchymosis should be carefully evaluated. This study should serve as an aid for the otolaryngologist to be aware of the possible manifestations of this malignancy in children.
Deregulation of the mTOR pathway may play an important role in tumor biology when the APC/β‐catenin pathway is disrupted in desmoid‐type fibromatosis (DT). A pilot study was conducted to determine ...whether sirolimus can block the mTOR pathway (primary aim) as well as determine whether it can safely be given in the preoperative setting, decrease tumor size/recurrence, and decrease tumor‐associated pain in children and young adults (secondary aims) with DT. Nine subjects ages 5–28 years were enrolled from 2014 to 2017 across four centers. Sirolimus was feasible and was associated with a nonstatistically significant decrease in pS706K activation.
Abstract Background Inflammatory myofibroblastic tumor (IMFT) is an uncommon neoplasm in children. Methods Retrospective review from 1993 to 2014 of patients ≤ 18 years of age with a histopathologic ...diagnosis of IMFT treated at two tertiary centers. Results Thirty-two patients were diagnosed with IMFT. Mean (± SD) age was 9.3 ± 5.7 years at diagnosis. Tumor location was variable: abdomen/pelvis (28%), head/neck region (22%), intrathoracic (22%), genitourinary (9%), bowel (6%) liver (6%), and musculoskeletal (6%). Median follow-up was 2.6 ± 4.6 years, with 3 recurrences and 2 deaths, which occurred only after recurrence. Positive microscopic margin after resection was associated with recurrence, compared to those that had a negative margin (40% vs. 0%, p = 0.04). Recurrence was associated with increased mortality (67% vs 0%, p = 0.01). Time from first symptoms to resection was shorter in those with recurrence (25.8 ± 22 vs. 179 ± 275 days, p = 0.01) and in nonsurvivors (44.0 ± 8.0 vs. 194.3 ± 53.4 days, p = 0.02). Adjuvant chemotherapy, not including steroid monotherapy, either given before or after resection, was administered more often to nonsurvivors (100% vs 4%, p = 0.009), and use of corticosteroids was also higher in the nonsurvivors (100% vs. 15%, p = 0.04). Conclusions IMFT is a rare pediatric neoplasm with variable locations. Complete excision is critical for cure. Proposed guidelines for diagnosis, treatment and surveillance of theses tumors in children are reported.
Imerslund-Gräsbeck syndrome is an autosomal recessive disorder of vitamin B12 malabsorption presenting with megaloblastic anemia and mild proteinuria in childhood. The disorder is caused by biallelic ...pathogenic variants in the CUBN or AMN genes, which encode proteins involved in B12 absorption. We present the case of a 17-month-old boy with failure to thrive, pancytopenia, and fevers. His megaloblastic anemia was overlooked leading to unnecessary invasive testing. Findings on bone marrow biopsy prompted investigation for genetic disorders of B12 metabolism. Exome sequencing uncovered 1 known pathogenic variant and 1 novel likely pathogenic variant in CUBN, confirming the diagnosis of Imerslund-Gräsbeck syndrome.
Ovarian immature teratoma is a germ cell tumor that comprises less than 1% of ovarian cancers and is treated with surgical debulking and chemotherapy depending on stage. Growing teratoma syndrome ...(GTS) is the phenomenon of the growth of mature teratoma elements with normal tumor markers during or following chemotherapy for treatment of a malignant germ cell tumor. These tumors are associated with significant morbidity and mortality due to invasive and compressive growth as well as potential for malignant transformation. Current treatment modality is surgical resection. We discuss a 12-year-old female who presented following resection of a pure ovarian immature teratoma (grade 3, FIGO stage IIIC). Following chemotherapy and resection of a pelvic/liver recurrence demonstrating mature teratoma, she underwent molecular genetics based chemotherapeutic treatment. No standardized management protocol has been established for the treatment of GTS. The effect of chemotherapeutic agents for decreasing the volume of and prevention of expansion is unknown. We review in detail the history, diagnostic algorithm, and previous reported pediatric cases as well as treatment options for pediatric patients with GTS.
Abstract Congenital rhabdomyosarcoma of the tongue is exceedingly rare. Fibromatosis of the tongue is also rare, and very difficult to distinguish from the spindle cell variant of rhabdomyosarcoma. ...Both appear histologically as spindle neoplasms replacing normal striated musculature of the tongue. The treatment protocol for the former has been developed by the Intergroup Rhabdomyosarcoma Studies (IRS) I–IV and requires surgery, radiation, and chemotherapy. For fibromatosis, complete surgical excision is usually adequate without additional therapy, although some cases of aggressive fibromatosis also require chemotherapy. With significant differences in appropriate treatment and prognosis, each entity must not be mistaken for the other. We review the differences in radiologic, histologic, and immunohistochemical (IHC) features of both entities.
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