Delaying Induction Therapy in Children With Newly Diagnosed Lymphoblastic Leukemia: Is that a Viable Strategy to Decrease Early Mortality?
No abstract available (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Letter to the Editor Source Type: research

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia
Conclusions: The patient extends the clinical variability associated to JAGN1 mutations, and this case highlights the importance of genetic investigations in patients with suspected neutropenia. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Clinical Implications of Real-time Integrative Sequencing in Management of Patients With Suspected Germline BAP1 Mutations
Germline mutation of BRCA-associated protein-1 has been implicated in the development of tumor predisposition syndrome and high risk for malignant mesothelioma, lung adenocarcinoma, uveal melanoma, and cutaneous melanoma. Here, we present the case of a patient with recurrent metastatic melanoma who was found to have germline BAP1 and somatic BRAF mutation by clinical genomic sequencing. Detection of a germline mutation prompted screening for other cancers and surveillance in family members. Prospective integrative sequencing for pediatric cancer patients may identify pathogenic germline mutations and may improve outcomes a...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Hemophagocytic Lymphohystiocytosis Associated With Type Ia Glycogen Storage Disease
Conclusions: Congenital metabolic diseases should be considered in the differential diagnosis of children with HLH. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Romiplostim for Immune Thrombocytopenia in Neuroblastoma Patients Receiving Chemotherapy
We report 2 cases of intravenous immunoglobulin refractory ITP in children receiving chemotherapy for high-risk neuroblastoma. ITP was successfully treated with the thrombopoietin-receptor-agonist romiplostim, allowing safe and timely continuation of antineuroblastoma therapies in these high-risk patients. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Respiratory Distress and Severe Anemia in a Child With Idiopathic Pulmonary Hemosiderosis
Idiopathic pulmonary hemosiderosis is an infrequent cause of pulmonary hemorrhage in children. It is classically defined by the triad of recurrent hemoptysis, iron-deficiency anemia, and diffuse parenchymal infiltration without an obvious cause. The pathogenesis remains unexplained, diagnosis may be difficult, and the clinical course exceedingly variable. A 4-year-old girl was admitted to the hospital with complaints of dyspnea, and skin and mucous membrane pallor. The suspicion of idiopathic pulmonary hemosiderosis led to the use of corticosteroid therapy with rapid improvement in clinical condition and discharge from hos...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Enteral Nutrition in Pediatric High-risk Head and Neck Cancer Patients Receiving Proton Therapy: Identifying Risk Factors and Quality of Life Concerns to Optimize Care
Conclusions: Pediatric patients with head and neck cancer can be risk-stratified based on clinical and dosimetric factors. This data, combined with parent and patient perceptions, is key to the development of rational guidelines. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

A 3-Year Retrospective Study of the Epidemiology of Acute Respiratory Viral Infections in Pediatric Patients With Cancer Undergoing Chemotherapy
Conclusions: In conclusion, we report our 3-year experience about the frequency and seasonality of respiratory viruses in children with cancer. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

Nivolumab in the Treatment of Recurrent or Refractory Pediatric Brain Tumors: A Single Institutional Experience
Successful use of immune checkpoint inhibitors in a variety of cancers has generated interest in using this approach in pediatric brain tumors. We performed a retrospective review of 10 consecutive children (6 boys, 4 girls; ages, 2 to 17 y), with recurrent or refractory pediatric brain tumors (5 high-grade glioma, 1 low-grade glioma, pineoblastoma, medulloblastoma, ependymoma, and CNS embryonal tumor, NOS) treated at Rady Children’s Hospital San Diego from 2015 to 2017 with the immune checkpoint inhibitor nivolumab (3 mg/kg every 2 wk). Eight of 10 patients received prior chemotherapy and 9 radi...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

Typhoid Fever Accompanied With Hematopoetic Lymphohistiocytosis and Rhabdomyolysis in a Refugee Child
In this study, we presented a case of hemophagocytic lymphohistiocytosis and rhabdomyolysis in a 14-year-old girl who migrated from Mosul, Iraq, 1 month ago. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

Platelet Indices Alterations in Children With Type 1 Diabetes Mellitus
Platelet (PLT) hyperactivity is a key factor which contributes to cardiovascular complications in patients with type 2 diabetes mellitus even in preclinical stages of disease. To the best of our knowledge, there is limited researches in this regard among patients with type 1 diabetes. The aim of this study was to evaluate hematologic indices indicating PLT activity in children with type 1 diabetes. This was a case-control study which was conducted on 166 inpatients in 17 Shahrivar children hospital, Rasht, Iran during April 2016 to April 2017. Cases and controls were 83 children with type 1 diabetes mellitus and 83 childre...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

Congenital Combined Deficiency of the Vitamin K-dependent Clotting Factors (VKCFD): A Novel Gamma-glutamyl Carboxylase (: GGCX: ) Mutation
Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a very rare autosomal recessive bleeding disorder. Here we report a case of a girl with novel variant in the gamma-glutamyl carboxylase (GGCX) gene leading to VKCFD. A 3-month-old girl presented to our hospital with a history of bleeding from puncture site. Laboratory evaluation showed markedly prolonged partial thromboplastin time and activated partial thromboplastin time. Activities of vitamin K-dependent factors were all low. Genetic analysis revealed a homozygous currently unreported variant in the GGCX gene further supporting a diagnosis of...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

Causes of Hypochromic Microcytic Anemia in Children and Evaluation of Laboratory Parameters in the Differentiation
Most common causes of microcytic anemia in children are iron deficiency anemia (IDA) and thalassemia. Differentiation of these and detection of coexistence is essential for genetic counseling and to set a treatment plan. Aim is to characterize the frequency of IDA and thalassemia trait (TT) in children presenting with hypochromic, microcytic anemia and to define the significance of blood count parameters in differential diagnosis. Of the 200 enrolled, 107 were male (53.5%). In total 154 had IDA (77%), 27 had β-TT (13.5%), and in 11 (5.5%) both conditions coexisted. Eight patients had α-thalassemia gene mutations...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

Serum and Urinary Hepcidin for Diagnosing Iron-deficiency Anemia in Under-5 Children
Bone marrow iron estimation remains the gold standard for diagnosing iron-deficiency anemia (IDA); serum ferritin, total iron-binding capacity, and transferrin saturation are routinely used as surrogate markers of IDA. However, these tests are marred by problems like poor specificity and sensitivity. Recently, hepcidin, a protein hormone synthesized in the liver and excreted in urine, has been shown to be related to iron status. We estimated the serum and urinary hepcidin levels in healthy children 6 to 60 months of age with (n=30) and without IDA (n=30). The mean (SD) serum hepcidin levels in children with IDA were signif...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

A Study of Congenital Protein C Deficiency With Infancy Onset of CADASIL in a Chinese Baby
Conclusions: We studied a rare case of an infat boy diagnosed with both congenital PCD and CADASIL; congenital PCD was attributable to a compound that was homozygous for (A-G)-12 at the transcription initiation site in the promoter region of the PROC gene, and CADASIL was caused by missense mutation in exon 24 of NOTCH3. He was a sporadic patient with congenital PCD and CADASIL; it maybe that the deficiency of protein C led to early onset of CADASIL. The gene sequencing of PROC gene and NOTCH3 gene may have important value for fertility guidance and prenatal diagnosis. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

A Rare Case of an Intracardiac Myoepithelial Carcinoma in an Infant
We report an extremely rare case of a right ventricular outflow tract mass identified to be an intracardiac MC in a 4-month-old male infant. Pathology revealed an EWS-KLF15 translocation. Treatment included gross total resection and intensive chemotherapy. Recurrent cardiac mass with brain metastasis was seen 16 months after primary diagnosis. We describe the rarity of intracardiac MC in pediatric patients and the challenges encountered in the multimodal management of this patient. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

Factors Influencing Do-Not-Resuscitate Status in Children During Last Month of Life: Single Institution Experience
Conclusions: It is possible that, other than demographic, clinical-associated, or therapy-associated factors play an important role in the process of decision-making regarding DNR. We feel that sincere communication between parents, their child (when appropriate) and medical and psychosocial staff may have a more crucial role when such decisions have to be made. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

Langerhans Cell Histiocytosis Masquerading as Hypereosinophilia in a Child
No abstract available (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Letters to the Editor Source Type: research

Myeloid Neoplasm With Eosinophilia and FIP1L1-PDGFRA Rearrangement Treated With Imatinib Mesylate: A Pediatric Case With Long-term Follow-up
No abstract available (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Letters to the Editor Source Type: research

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation
We report a patient with a novel missense p.Glu297Gly mutation in the IL2RG gene presenting with a leaky TlowB+NK+ SCID with delayed onset, moderate susceptibility to infections, and nodular regenerative hyperplasia. He presents with preserved STAT5 tyrosine phosphorylation in response to IL-15 stimulation but not in response to IL-2 and IL-7, resulting in the NK+ phenotype. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Clinical and Laboratory Observations Source Type: research

EBV-related Cold Agglutinin Disease Presenting With Conjugated Hyperbilirubinemia: A Pediatric Case Report and Mini Review
Hemolytic anemia occurs in only 1% to 3% of hospitalized patients with infectious mononucleosis. The authors describe an 8-year-old girl without cervical lymphadenopathy or splenomegaly, who presented with conjugated hyperbilirubinemia and was diagnosed with cold agglutinin disease caused by an immunoglobulin M autoantibody with anti-i specificity. Acute Epstein-Barr virus infection was confirmed by serologic and molecular methods. She recovered uneventfully after a 3-week course of methylprednisolone. Epstein-Barr virus infection should be considered in any case of hemolytic anemia associated with hepatic dysfunction, esp...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Clinical and Laboratory Observations Source Type: research

Deep Vein Thrombosis in a Young, Healthy Baseball Catcher: A Case Report and Review of the Literature
Venous thromboembolism is becoming increasingly recognized as a significant cause of morbidity and mortality in the hospitalized pediatric population. However, young healthy athletes can present with unique risk factors for deep vein thrombosis (DVT) that can be overlooked. Here we report a case of an adolescent male with no inherited risk factors or prior history of DVTs who developed a right femoral vein DVT in the context of playing catcher in baseball after recovering from a bout of streptococcal pharyngitis. We review the evidence that suggests that repetitive squatting-induced compression of the femoral vein can caus...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Clinical and Laboratory Observations Source Type: research

Systemic Epstein-Barr Virus-positive T-Cell Lymphoma of Childhood Presentation With Hemophagocytosis
A 2-year-old Asian girl presented to our facility for the evaluation of thrombocytopenia. She was treated with intravenous immunoglobulin under the impression of immune thrombocytopenia. However, her body temperature spiked and progressive pancytopenia, hepatosplenomegaly, abnormal liver function, coagulopathy, and pulmonary infiltration developed. The final diagnosis was systemic Epstein-Barr virus (EBV)-positive T-cell lymphoma of childhood with hemophagocytic syndrome. This type of cancer is extremely rare but occurs more commonly in Asians. Its prognosis is generally poor, and a treatment strategy is yet to be establis...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Morphology Corner Source Type: research

Cognitive Behavior Therapy for Persistent Severe Fatigue in Childhood Cancer Survivors: A Pilot Study
Objectives: Fatigue is a common and disabling late effect in childhood cancer survivors (CCS). In this pilot study, the effectiveness of cognitive behavior therapy (CBT) in CCS with persistent and severe fatigue was retrospectively evaluated. Materials and Methods: In total, 33 consecutively referred CCS with persistent severe fatigue were offered CBT. The primary outcome was fatigue severity (Checklist Individual Strength, Fatigue Severity Subscale). Secondary outcomes were functional impairment, psychologic distress, and quality of life (QoL). Results: In total, 25 CCS completed CBT (76%). The mean age of CCS was...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Medical Progress Source Type: research

Health-related Quality of Life in Children With Sickle Cell Disease Undergoing Chronic Red Cell Transfusion Therapy
This study evaluated health-related quality of life (HRQL) in children receiving CRCT relative to 2 comparison groups: children with similar, severe SCD and children with milder disease risk defined by SCD genotype. For this study, 67 children with SCD between the ages of 8 and 18 completed the self-report Pediatric Quality of Life Sickle Cell Disease module (PedsQL SCD) as part of a pilot clinical program during routine hematologic visits. A medical chart review was also performed. Linear regression suggested that children in the CRCT group had significantly higher self-reported HRQL ratings for domains related to pain, F...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

Can Couples With MCV≥80, MCH
Background and Aim: Thalassemia screening instructions in Iran categorizes couples with mean corpuscular volume (MCV)=75 to 80, mean corpuscular hemoglobin (MCH)=26 to 27, hemoglobin A2 (HbA2) (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

Clinical Features and Treatment Outcomes of Children With Anaplastic Large Cell Lymphoma in Pakistan: A Multicenter Study
Conclusions: Significant therapy-related mortality (27.7%) was observed. Treatment abandonment and therapy-related toxicity were the major barriers for better outcomes. However, less intensive outpatient regimens, such as adriamycin-prednisolone-oncovin regimen, may decrease the number of hospitalizations, hence reducing treatment abandonment in the low and middle-income country. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

Palonosetron is a Better Choice Compared With Ondansetron for the Prevention of Chemotherapy-induced Nausea and Vomiting (CINV) in a Resource-limited Pediatric Oncology Center: Results From a Randomized Control Trial
Palonosetron (PG) is a newer, safe, and effective long-acting 5-HT3 antagonist commonly used in adults, but data in children are limited. A randomized controlled trial was carried out among children with cancer during their first cycle of moderate or highly emetogenic chemotherapy to receive either PG or ondansetron (OG) with the aim of comparing their efficacy, safety, and cost-effectiveness. In total, 200 children (mean age, 8 y, male:female=1.8:1) were recruited, 100 in each arm. Complete response, defined as no vomiting, in acute ( (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

Postchemotherapy Immunization Practices for Non-HSCT Pediatric Oncology Patients
This study describes current reimmunization practices among pediatric oncologists. We surveyed the Children’s Oncology Group (COG)-identified principle investigators to capture clinical practices among pediatric oncologists within their institutions regarding reimmunization of non–hematopoietic stem cell transplantation patients. The majority of respondents did not routinely assess vaccine-related immune status; those who did most frequently assessed 6 months after cessation of therapies. Methods of assessment included type of therapy received, vaccine titers, and absolute lymphocyte counts. Providers from smal...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

Barriers to Medication Access in Pediatric Oncology in the United States
Timely medication access in pediatric oncology is important; yet barriers are poorly described. We surveyed pediatric oncology health care providers at National Cancer Institute Community Oncology Research Program sites on their experience with the impact of drug acquisition difficulties, prior authorization (PA) requests, insurance denials, and patient copays leading to deviations or delays from prescribed treatment for their pediatric/adolescent/young adult patients in calendar year 2016. PA requests, the most frequently cited issue, created a deviation or delay from planned chemotherapy and supportive care treatment in ...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

National Survey on the Management of Wilms Tumor
This study aims to investigate the management of Wilms tumor by the Egyptian pediatric surgical association (EPSA) consultants. After approval of the EPSA executive board, a questionnaire was distributed individually to all consultants attending the general assembly of EPSA 2017 annual congress. Of 88 consultants, responses were received from 61. Palpable abdominal mass was indicated by 72.13% of respondents as the commonest presenting symptom. Concerning the imaging requested, computed tomography was reported by 80.33%. Approximately 62.30% of respondents perform 1 to 3 cases annually. Regarding timing of surgery, upfront...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

Human Fibrinogen Concentrate and Fresh Frozen Plasma in the Management of Severe Acquired Hypofibrinogenemia in Children With Acute Lymphoblastic Leukemia: Results of a Retrospective Survey
In this study we aimed to retrospectively evaluate how centers, belonging to the Associazione Italiana Ematologia e Oncologia Pediatrica (AIEOP), manage severe acquired hypofibrinogenemia in children with acute lymphoblastic leukemia, particularly evaluating the therapeutic role of human fibrinogen concentrate (HFC) and fresh frozen plasma (FFP). Methods: We conducted a survey among AIEOP centers; thereafter, we collected and analyzed data with regard to the treatment of episodes of severe acquired hypofibrinogenemia occurring during the induction and reinduction phases of the AIEOP-BFM ALL 2009 protocol. Results: In...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

A Meta-analysis of Traffic-related Air Pollution and Risk of Childhood Leukemia
Conclusions: Current evidence suggests that childhood leukemia is associated with traffic density, and moderate exposure to NO2 and benzene. However, more high-quality studies are required to confirm the conclusions. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

Early Deaths in Pediatric Acute Leukemia: A Major Challenge in Developing Countries
Children with acute leukemia may experience high treatment-related mortality, which often occurs early in the induction phase. The aim of the study was to assess the incidence and risk factors related to increased mortality during induction therapy of pediatric patients with acute leukemia. This is a retrospective study that included pediatric acute leukemia patients who presented to the National Cancer Institute, Cairo University, between January 2011 and December 2013. The study included 370 patients, 253 with acute lymphoblastic leukemia, 100 with acute myeloid leukemia, and 17 with mixed phenotype acute leukemia. The t...
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

Hepatosplenic Fungal Infections in Children With Leukemia—Risk Factors and Outcome: A Multicentric Study
Conclusions: Early diagnosis of HSFI is challenging because signs and symptoms are usually nonspecific. In neutropenic children, persistent fever, back pain extending to the shoulder, widespread muscle pain, and increased serum galactomannan levels should alert clinicians. Abdominal imaging, particularly an abdominal ultrasound, which is easy to perform and available even in most resource-limited countries, should be recommended in children with prolonged neutropenic fever, even in the absence of localizing signs and symptoms. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

Blood Stream Infections and Antibiotic Utilization in Pediatric Leukemia Patients With Febrile Neutropenia
Conclusions: In our small cohort of patients, deescalation of antibiotic therapy based on antimicrobial susceptibilities did not result in complication. Larger prospective studies are needed to address the safety of deescalating antibiotic therapy in this population. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - April 24, 2019 Category: Hematology Tags: Original Articles Source Type: research

Burkitt Lymphoma Presenting With Intracardiac Mass and Tumor Thrombosis in the Anterior Mediastinum With Literature Review
This report describes the case of a 10-year-old boy who presented with an intracardiac mass and tumor thrombosis in the anterior mediastinum that proved to be Burkitt lymphoma. The LMB-96 chemotherapy protocol was given and at the end of the treatment there was still residual mass. A biopsy was performed and the pathology revealed thymus tissue. The patient has been in complete remission for 3 months. Burkitt lymphoma has a short doubling time and an intracardiac lesion can become life threatening. Early recognition and prompt treatment are crucial in achieving optimal outcomes. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis
We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis. Genetic sequence analysis of the LIPA gene revealed homozygous mutation c.153 C>A (p.Tyr51*). The parents were heterozygous for this mutation. Prenatal diagnosis has been carried out in the next pregnancy. To our knowledge, this mutation has never been reported before, and this is an unusual case of secondary hemophagocytic lymphohistiocytosis complicating Wolman disease. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Congenital Neutropenia Patient With Hypomorphic Biallelic CSF3R Mutation Responding to GCSF
Congenital neutropenia (CN) is a rare disorder, and the most common gene responsible for CN is ELANE. Furthermore, the mutations of HAX1, G6PC3, and JAGN1 genes may cause CN. These patients generally find great benefit from subcutaneous administration of Granulocyte Colony Stimulating Factor (GCSF). In recent years, Biallelic Colony Stimulating Factor 3 Receptor (CSF3R) mutations have been described as an underlying defect of CN in several children. In contrast to the previous group, the patients who have a CSF3R mutation do not respond to GCSF treatment. Here, we present a CN patient with hypomorphic biallelic CSF3R mutat...
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

A Novel Mutation of Glucose Phosphate Isomerase (GPI) Causing Severe Neonatal Anemia Due to GPI Deficiency
Glucose-6-phosphate isomerase (GPI) deficiency is very rare, but one of the most common erythroenzymopathies, causing hereditary nonspherocytic hemolytic anemia. This case report describes the clinical features and the molecular etiology of a Dutch patient with GPI deficiency. She is the fifth patient with GPI deficiency identified to date in the Netherlands and was found to be compound heterozygous for the previously reported c.1615G>A p.(Asp539Asn) mutation and a novel c.271A>T p.(Asn91Tyr) variant. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Hematologic Manifestations of Nutritional Deficiencies: Early Recognition is Essential to Prevent Serious Complications
We describe 5 cases which illustrate the hematologic manifestations of nutritional deficiencies and challenges to initial diagnosis and management. Supplementation of the deficient vitamin or micronutrient in all of these cases resulted in rapid resolution of cytopenias, hemorrhage, and other associated hematologic symptoms. We also review other nutritional deficiencies that manifest with hematologic symptoms and compile recommendations on treatment and expected time to response. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Hemolytic Uremic Syndrome Associated With Non–Shigatoxin-producing Infectious Agents: Expanding the Shigatoxin Theory
We report 2 cases of HUS, respectively, caused by salmonella and Campylobacter jejuni infections. None of these bacteria produce shigatoxins, and the underlying mechanism of HUS development remains unknown. In streptococcus pneumoniae–associated HUS, bacterial neuraminidase cleaves neuraminic acid and causes exposure of Thomsen-Friedenreich cryptantigen on the cell surface of, for example, erythrocytes, which induces an inflammatory response caused by binding of preformed IgM. Both campylobacter and salmonella bacteria also produce neuraminidase, and HUS development could be explained by a similar mechanism. (Source:...
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Spontaneous Remission of Monosomy 7 Six Years After Diagnosis
We report a case of a child with bone marrow failure and monosomy 7 who underwent spontaneous remission 75 months after diagnosis. The patient had no exposure to chemotherapeutic or immunosuppressive agents. The patient did not receive chemotherapy or other treatment during the 75 months. Despite remaining positive for monosomy 7, he never developed myelodysplasia or acute myeloid leukemia. Spontaneous remission of monosomy 7 may occur years after diagnosis in some patients. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Clinical and Radiographic Response of Extramedullary Leukemia in Patients Treated With Gemtuzumab Ozogamicin
Extramedullary leukemia (EML) is common in pediatric acute leukemia and can present at diagnosis or relapse. CD33 is detected on the surface of myeloid blasts in many patients with acute myelogenous leukemia and is the target of the antibody drug conjugate gemtuzumab ozogamicin (GO). Here we present 2 patients with CD33+ EML treated with GO. They achieved significant response, with reduction of EML on both clinical and radiographic exams, specifically 18fluorine fluorodeoxyglucose positron emission tomography/computed tomography, demonstrating potential for targeted therapy with GO as a means of treating EML in patients wi...
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Addition of Vincristine and Irinotecan to Standard Therapy in a Patient With Refractory High-risk Hepatoblastoma Achieving Long-term Relapse-free Survival
This report describes a 3-year-old girl with metastatic hepatoblastoma with unresectable disease after 5 cycles of cisplatin, 5-fluorouracil, vincristine, and doxorubicin who had a complete response of her metastatic disease to vincristine and irinotecan (intravenous and oral forms), allowing surgical resection of her liver disease. She remains in remission 48 months since therapy completion. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Syncytial Variant Nodular Sclerosis Classical Hodgkin Lymphoma in an Adolescent and Review of the Literature: A Unique Entity
Syncytial variant of nodular sclerosis (SV-NS) classical Hodgkin lymphoma (cHL) with its histologic features and clinical presentation is uncommon in adults and extremely rare in children. Here, we report a female teenager presenting with long-standing B symptoms, prominent soft tissue and bone involvement mimicking sarcoma and significant nodal disease who is diagnosed with advanced SV-NS cHL. Rare Reed-Sternberg-like cells displaying neutrophil and erythrocyte emperipolesis were seen on bone marrow aspiration slides. Despite initial complete response to chemotherapy and radiotherapy, the patient experienced early relapse...
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Hepatitis-associated Aplastic Anemia: A Report of 3 Cases Associated With HAV
We present 3 cases of hepatitis-associated aplastic anemia after hepatitis A virus infection. One of our cases is the first reported case of hepatitis-associated aplastic anemia after fulminant hepatitis A infection. Patient characteristics were consistent with older reports with regard to age and sex. All 3 patients were male individuals under the age of 20. In addition, all 3 patients had A+ blood group. Outcomes in our series were poor because of the unavailability of antithymocyte globulin and bone marrow transplantation. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

A Case of Allergic Broncopulmonary Aspergillosis Associated With Hematopoietic Stem Cell Transplantation Due to Chronic Granulomatous Disease
Allergic bronchopulmonary aspergillosis is an immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus. This disorder is most commonly seen in patients with poorly controlled asthma and cystic fibrosis. It is rarely reported in chronic granulomatous disease patients; however, there are no cases reported with hematopoietic stem cell transplantation in the English literature. Herein, we report a patient with chronic granulomatous disease who had hematopoietic stem cell transplantation and subsequently developed allergic bronchopulmonary aspergillosis. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Successful Haploidentical Stem Cell Transplant With Posttransplant Cyclophosphamide for Hemophagocytic Lymphohistiocytosis
Allogeneic hematopoietic stem cell transplant (HSCT) has been known to be a curative therapy for patients with hemophagocytic lymphohistiocytosis (HLH) but donor availability is an issue. Haploidentical HSCT with posttransplant cyclophosphamide (PTCy) has been investigated as a feasible option for various malignant and nonmalignant conditions with reduced incidence of acute graft versus host disease (GVHD) and graft rejection. However, its use has not been described in children with HLH and here we describe 2 boys who underwent successful haploidentical HSCT with PTCy. None had acute GVHD and 1 had limited chronic GVHD. Bo...
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

Langerhans Cell Histiocytosis Presenting as Enterocolitis and Shock in Neonate
Conclusions: Gastrointestinal involvement in neonatal LCH is infrequent and its symptoms can be really unspecific. It is important to know that the first clinical manifestation is usually dermatologic with very diverse morphologies. Having a high suspect rate will lead us to an early diagnosis with its correspondent impact upon the outcome. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - March 22, 2019 Category: Hematology Tags: Online Articles: Original Articles Source Type: research