scholarly journals Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

2017 ◽  
Vol 2017 ◽  
pp. 1-13 ◽  
Author(s):  
Carlos Sánchez-Montenegro ◽  
Alejandra Vilanova-Sánchez ◽  
Saturnino Barrena-Delfa ◽  
Jair Tenorio ◽  
Fernando Santos-Simarro ◽  
...  
Keyword(s):  
Overall Survival ◽  
Pediatric Patients ◽  
De Novo ◽  
Case Reports ◽  
Tumor Location ◽  
Costello Syndrome ◽  
Missense Mutations ◽  
Review Of The Literature ◽  
Age Of Diagnosis ◽  
Umbilical Ligament

Costello syndrome is caused by heterozygous de novo missense mutations in the protooncogene HRAS with tumor predisposition, especially rhabdomyosarcoma. We here report two pediatric patients with Costello syndrome and umbilical ligament rhabdomyosarcoma. A review of the literature published in English in MEDLINE from January 1971 to June 2016 using the search terms “Costello syndrome” and “rhabdomyosarcoma” was performed, including two new cases that we describe. Twenty-six patients with Costello syndrome and rhabdomyosarcoma were recorded with mean age of diagnosis of 2 years and 8 months. The most common tumor location was the abdomen/pelvis, including four out of ten of those in the umbilical ligament. The most common histological subtype was embryonal rhabdomyosarcoma. Overall survival was 43%. A total of 17 rhabdomyosarcomas in pediatric patients arising in the umbilical ligament were recorded with mean age of diagnosis of 3 years and 4 months. Overall survival was 69%. Costello syndrome is a poorly known disorder in pediatric oncology but their predisposition to malignancies implies the need for a new perspective on early diagnosis and aggressive medical and surgical treatment.

scholarly journals Incidence and Outcomes of Pediatric Myelodysplastic Syndrome in the US

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 1285-1285
Author(s):  
Ana Xavier ◽  
Matthew A. Kutny ◽  
Luciano J Costa
Keyword(s):  
Overall Survival ◽  
Myelodysplastic Syndrome ◽  
Pediatric Patients ◽  
De Novo ◽  
The United States ◽  
Refractory Anemia ◽  
Histological Subtype ◽  
Risk Of Death

Background There is lack of epidemiological data on pediatric myelodysplastic syndrome (p-MDS) in the literature. MDS became reportable to the Surveillance, Epidemiology and End Results (SEER) Program in 2001, providing an opportunity to estimate the incidence and survival of pediatric patients with MDS in the United States. Methods We utilized data from the National Cancer Institute SEER-18 to determine the incidence and long term overall survival (OS) of pediatric patients (ages 0 to 20 years) diagnosed with de novo MDS or therapy-related MDS. Inclusion criteria was diagnosis of MDS (International Classification of Diseases-Oncology, Third Edition, ICD-O-4 codes 9980/3, 9991/3, 9992/3, 9982/3, 9985/3, 9983/3, 9986/3, 9986/3, 9989/3, 9985/3, 9975/3, and 9987/3) between 2001 and 2011. Follow up was updated through the end of 2011 (November 2013 submission). Overall survival was estimated using the method of Kaplan-Meier. A Cox proportional hazard model was used to compare the effects of age, race, gender, histological subtype, and etiology (de novovs. therapy-related) on survival. Results The incidence of p-MDS was 1.16 cases/1 million population*year. A greater incidence occurred in children younger than 1 year of age possibly reflecting congenital bone marrow failure syndromes (Figure 1). A total of 314 p-MDS cases were included in the analysis with median follow up of 31 months (range 0-131). Median age of patients was 9 years; 167 (53.3%) had MDS unclassifiable (NOS), 40 (12.7%) had therapy-related MDS (t-MDS), 44 (14%) had refractory anemia with excess blasts (RAEB), 32 (10.3%) had refractory anemia (RA), 17 (5.4%) had refractory cytopenia with multilineage dysplasia (RCMD), 6 (1.9%) had refractory anemia with ring sideroblasts (RARS), 5 (1.6%) had refractory anemia with excess blasts in transformation (RAEBT), and 3 (0.9%) had MDS associated with isolated del(5q). Male patients comprised 154 (49%) of cases. Racial groups included white (218, 69.4%), 52 (15.7%) black, 37 (11.8%) of other races, and 7 (2.3%) the race was unknown. The 5 year-OS for the entire cohort was 68% (95% C.I.=62.3-73.7). Patients with t-MDS had significantly worse 5 year-OS (41.2%; 95%C.I.=23.8-58.6) compared to those with de novo MDS (71.3%; 95%C.I.=65.3-77.2; P=0.004, Figure 2). In multivariate analysis of age, race, gender, histological subtype, and etiology (de novovs. therapy-related) utilizing Cox regression model, only t-MDS was associated with higher risk of death (HR=2.07, 95% C.I.=1.25-3.42, P=0.005). Conclusions Pediatric MDS is a rare disorder, with higher incidence among children younger than 1 year of age. Over two thirds of p-MDS patients will become long-term survivors, although significantly inferior outcome is seen in t-MDS. Figure 1 Figure 1. Figure 2 Figure 2. Disclosures No relevant conflicts of interest to declare.

TET2 Mutations Are Associated with Poor Outcome in Pediatric AML: A Report From the Children's Oncology Group

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 569-569
Author(s):  
Matthew A. Kutny ◽  
Todd A. Alonzo ◽  
Robert B. Gerbing ◽  
Daniel Geraghty ◽  
Alan S. Gamis ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
De Novo ◽  
Splice Site Mutation ◽  
Missense Mutations ◽  
Site Mutation ◽  
Nonsense Mutations ◽  
Free Survival ◽  
Significant Difference ◽  
De Novo Aml ◽  
Pediatric Aml

Abstract Abstract 569FN2 Mutations of the TET2 gene are implicated in abnormal epigenetic regulation in myeloid cancers. Recent studies of adults with AML have suggested that TET2 mutations (TET2/Mut) are associated with an inferior outcome. However, the prognostic role of TET2/Mut in pediatric AML has not been previously described. We sequenced the entire coding region of the TET2 gene in 403 pediatric patients with de novo AML treated on Children's Cancer Group study CCG-2961 (n=169) and Children's Oncology Group study AAML03P1 (n=234). Patients with synonymous mutations and previously reported polymorphisms were considered to be TET2 wild type (TET2/WT). TET2/Mut were identified in 5.2% of patients (25 mutations in 21 patients). Four patients had two distinct mutations: 2 patients had 2 missense mutations, 1 patient had 2 nonsense mutations, and 1 patient had 1 nonsense mutation and 1 splice site mutation. There were 14 different missense mutations, 4 of these each present in 2 patients. There were 5 different nonsense mutations, 1 insertion with frame shift, and 1 splice site mutation. These mutations were scattered throughout the gene from amino acids 171 to 1973. Presence of TET2/Mut was correlated with patient demographics, laboratory characteristics, and clinical outcome. There was no significant difference in gender, median age, presenting WBC count, or FAB classification between patients with or without TET2/Mut. There was a higher percentage of black patients in the TET2/Mut than the TET2/WT group (31.6% vs. 12.6%, P=0.031); there was no significant difference in other racial or ethnic groups. TET2/Mut was not associated with known high risk cytogenetic or molecular markers. There was a higher association of TET2 mutations with favorable risk t(8;21) which was present in 30% of TET2/Mut patients versus 13% of TET2/WT patients (P=0.045). TET2 mutations were not associated with other cytogenetic abnormalities or molecular mutations (FLT3/ITD, CEBPA, NPM1, or WT1 mutations). TET2/Mut and TET2/WT patients had similar clinical remission (CR) rates at the end of induction course 1 (90.5% vs. 80%, P=0.39) and end of induction course 2 (81.0% vs. 79.7%, P=1.00). TET2/Mut patients had an event-free survival (EFS) at 5 years from diagnosis of 29%±20% vs. 45% ±5% for TET2/WT patients (P=0.087). In patients who achieved an initial CR, those with TET2/Mut had a disease-free survival (DFS) at 5 years from remission of 32% ±21% vs. 52% ±6% for TET2/WT patients (P=0.027). Corresponding relapse risk at 5 years from remission was 53% ±23% for TET2/Mut patients vs. 37% ±6% for TET2/WT patients (P=0.10). Due to the association of TET2 mutations with t(8;21), we inquired whether TET2/Mut have prognostic significance within the favorable risk core binding factor (CBF) subgroup of leukemia. Of the 91 patients with CBF leukemia, 9 patients (9.9%) had TET2/Mut. CBF patients with TET2/Mut had lower 5-year EFS (44%±33%) than TET2/WT patients (59%±11%, P=0.084). As CBF patients are considered a low risk group, they do not receive stem cell transplant consolidation in more contemporary clinical protocols. Therefore, we performed clinical outcome evaluation after censoring CBF patients at the time of transplant and found that TET2/Mut patients had an EFS of 39%±35% vs. 57%±12% for TET2/WT patients (P=0.042). In summary, TET2 mutations are present in 5.2% of pediatric patients with de novo AML. Although TET2/Mut are not associated with known high risk markers, patients with these mutations have poor 5-year DFS and show a strong trend toward worse 5-year EFS. TET2/Mut may also be predictive of poor outcome in patients with CBF leukemia. Further evaluation of this molecular abnormality in patients treated on current pediatric cooperative group studies is warranted. Disclosures: No relevant conflicts of interest to declare.

Pediatric Myelodysplastic Syndromes and Allogeneic Hematopoietic Progenitor Cell Transplantation (HPCT): A Single Center Perspective.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 1780-1780
Author(s):  
Jeffrey R. Andolina ◽  
Morris Kletzel ◽  
David Jacobsohn ◽  
William T. Tse ◽  
Jennifer Schneiderman ◽  
...  
Keyword(s):  
Overall Survival ◽  
Myelodysplastic Syndromes ◽  
Peripheral Blood ◽  
Pediatric Patients ◽  
De Novo ◽  
Relapse Free Survival ◽  
Myeloablative Conditioning ◽  
Free Survival ◽  
Unrelated Donors ◽  
Conditioning Regimens

Abstract Abstract 1780 Poster Board I-806 Introduction Myelodysplastic syndromes (MDS) in pediatrics comprise a heterogenous group of disorders that are poorly understood and difficult to treat. Allogeneic HPCT remains the only curative treatment, but published outcomes in children are limited. Methods We performed a retrospective review of pediatric patients with MDS who received an allogeneic HPCT on IRB approved protocols between 1992 and 2009 at Children's Memorial Hospital (Chicago, IL). Results The study population consisted of 23 consecutive patients. Median age at transplant was 9.2 years (range 4.6-17.2 years) and median time to transplant from diagnosis was 4.3 months (range 2.2-9.9 months). Nine patients (39%) had de novo MDS, whereas 14 of 23 (61%) patients had treatment-related MDS, and 4 patients in this group had received a previous autologous transplant for a previous malignancy. All patients had a documented cytogenetic abnormality: monosomy 7/7q- in 12 patients (52%), trisomy 8 in 3 (13%), translocation (6;9) in 3 (13%), and others in 5 (22%). Donors were HLA matched siblings in 8 cases (35%), 8/8 loci HLA matched unrelated donors in 6 (26%), and the remaining 9 (39%) were 6-7/8 loci HLA mismatched unrelated donors. HPC source was peripheral blood in 13 patients (57%), cord blood in 7 (30%), and bone marrow in 3 (13%). Fourteen of 23 (61%) patients received a myeloablative conditioning regimen with TBI/Cy in 9 (31%), Bu/Cy in 4 (17%), and Flu/Bu/low-dose TBI in 1. Reduced intensity conditioning (RIC) regimens were used for the remaining 9 (39%) and consisted of Flu/Bu/ATG. Indications for RIC transplant included patient choice in 4 patients, prior autologous transplants in 3 patients, and comorbid conditions in 2 patients. Twenty patients (90%) had evidence of engraftment, with only 1 death prior to day 100. Seven patients (30%) died secondary to transplant-related complications, including infection in 4, GVHD in 2, and toxic epidermolysis in 1. Of the 4 patients that had received a prior transplant, 3 died from transplant-related mortality. Grade 2-4 acute and chronic graft-versus-host disease (GVHD) was seen in 9 (39%) and 11 (48%) patients, respectively. For the entire group, estimated five year relapse-free survival (RFS) and overall survivals (OS) were 47% [95% CI: 28%, 67%] and 50% [95% CI: 25.1%, 71.1%], respectively. Two patients had graft failure, which included 1 patient who received cord blood and 1 patient who received peripheral blood with RIC. Five patients suffered a relapse of original disease, including 3 patients who received RIC. These 3 patients each received a second myeloablative transplant; 2 of these patients remain alive and disease-free. Treatment-related MDS was associated with decreased RFS in comparison to non-treatment-related MDS (33% [95% CI: 11%, 58%]) vs. 70% [95% CI: 22%, 92%], p=0.05). In contrast, five year OS rates reached 80% for those with de novo MDS. There was no significant difference in overall survival between patients who received RIC versus myeloablative conditioning (p=0.17), but RIC regimens were associated with decreased relapse-free survival in comparison to myeloablative conditioning regimens (22% [95% CI: 3%, 51%] vs. 68% [95% CI: 34%, 87%], p=0.02). On univariate analysis, there was no correlation of relapse-free or overall survival with blast count at diagnosis, IPSS score, type of cytogenetic abnormality, receiving AML-like chemotherapy for MDS, CMV serostatus, donor type and HLA match, cell dose, and time to transplant. Conclusions Allogeneic HPCT is a curative option for pediatric MDS. In this series of high risk patients we achieved OS approaching 80% in patients with de novo MDS. Those who received RIC had an increased relapse rate but were salvaged by myeloablative conditioning regimens and had comparable outcomes to the myeloablative group. The role of RIC regimen transplants in pediatric MDS needs to be studied further. Larger series of pediatric patients are needed to establish a prognostic scoring system to predict outcome and select appropriate conditioning regimens to further improve survival in allogeneic HPCT for MDS. Disclosures No relevant conflicts of interest to declare.

scholarly journals Surgical debridement of corneal shield ulcers in pediatric patients: two case reports and a review of the literature

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Ricardo Alexandre Stock ◽  
Silvia Letícia Teixeira Lazzari ◽  
Isadora Proner Martins ◽  
Elcio Luiz Bonamigo
Keyword(s):  
Pediatric Patients ◽  
Case Reports ◽  
Surgical Debridement ◽  
Review Of The Literature

Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature

2019 ◽  
Vol 32 (3) ◽  
pp. 305-310 ◽  
Author(s):  
Thomas E. Forman ◽  
Anna-Kaisa Niemi ◽  
Priya Prahalad ◽  
Run Zhang Shi ◽  
Laura M. Nally
Keyword(s):  
Side Effects ◽  
Pediatric Patients ◽  
De Novo ◽  
Clinical Course ◽  
Review Of The Literature ◽  
Calcium Sensing Receptor ◽  
Case Presentation ◽  
Calcium Sensing ◽  
Calcium Phosphorus ◽  
Pharmacologic Agents

Abstract Background Neonatal severe hyperparathyroidism (NSHPT) is commonly treated with either parathyroidectomy or pharmacologic agents with varying efficacy and numerous side effects. Reports of using cinacalcet for NSHPT have increased, however, the effective dose for pediatric patients from the onset of symptoms through infancy has not been established. Case presentation We describe the clinical course of a newborn with a de novo R185Q mutation in the calcium-sensing receptor (CASR) gene, causing NSHPT. The infant received cinacalcet from the first days of life until 1 year of age. Conclusions Cinacalcet therapy effectively controlled the patient’s serum calcium, phosphorus, and parathyroid hormone (PTH) levels without side effects.

scholarly journals Management of Peritoneal Dialysis Catheters that Erode into Bowel: Two Pediatric Case Reports and a Review of the Literature

2016 ◽  
Vol 36 (6) ◽  
pp. 680-684 ◽  
Author(s):  
Troy A. Markel ◽  
Karen W. West
Keyword(s):  
Peritoneal Dialysis ◽  
Pediatric Patients ◽  
Case Reports ◽  
Rare Complication ◽  
Intestinal Injury ◽  
Catheter Removal ◽  
Review Of The Literature ◽  
Pediatric Case ◽  
Definitive Repair

Erosion of peritoneal dialysis (PD) catheters into the intestine is a rare complication of PD. Herein, we convey the first reports of 2 pediatric patients undergoing PD who were found to have the catheter eroding into their intestines. They were treated minimally with catheter removal and antibiotics. Definitive repair of the intestinal injury was not performed. These are the first pediatric patients reported with PD catheter erosion. Perforating injuries may be self-limiting, and therefore a more minimal approach may be considered in certain patient populations who do not express overt signs of peritonitis or illness.

Post-radioiodine De Novo Onset Graves’ Ophthalmopathy: Case Reports and a Review of the Literature

2014 ◽  
Vol 30 (3) ◽  
pp. 227-231 ◽  
Author(s):  
Ruchika Batra ◽  
Senthil Kumar Krishnasamy ◽  
Harit Buch ◽  
Soupramanien Sandramouli
Keyword(s):  
De Novo ◽  
Case Reports ◽  
Review Of The Literature ◽  
Graves Ophthalmopathy

scholarly journals Intravenous and Oral Posaconazole Pharmacokinetics in a Five-Year-Old With Mucor: A Case Report and Review of the Literature

2019 ◽  
Vol 24 (6) ◽  
pp. 528-533
Author(s):  
Matthew O. Ruland ◽  
Tosha A. Egelund ◽  
John S. Ng ◽  
Scott M. Bradfield ◽  
Eric F. Egelund
Keyword(s):  
Poor Prognosis ◽  
Pediatric Patients ◽  
Case Reports ◽  
Case Series ◽  
Dosage Forms ◽  
Therapeutic Drug ◽  
Review Of The Literature ◽  
Safety And Efficacy ◽  
Attractive Option ◽  
Pediatric Use

Posaconazole is a lipophilic triazole antifungal that exhibits variable absorption when administered orally. It possesses a broad spectrum of activity against various fungi, such as Aspergillus and traditionally resistant molds such as Rhizopus and Mucor, which carry a poor prognosis. Unfortunately, the tablet and suspension formulations of posaconazole are Food and Drug Administration approved for treatment of fungal diseases only in patients older than 13 years of age. Furthermore, the approval of the IV formulation is exclusively for adult patients. Nevertheless, the extended spectrum of activity and available dosage forms make it an attractive option for pediatric use. The data that exist to guide dosing of posaconazole in young pediatric patients are limited primarily to case series and case reports. Thus, we recommend therapeutic drug monitoring to ensure both safety and efficacy in pediatric patients. Herein we describe our experience with both oral and IV posaconazole in the salvage therapy of a 5-year-old female with extensive cutaneous Mucor. In contrast to previous reports, which show larger doses may be necessary to obtain therapeutic concentrations in pediatric patients as compared with adults, our patient reached targeted concentrations with weight-based dosing.

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