Vascular anomalies comprise a heterogeneous group of disorders characterized by abnormal growth or development of blood vessels. Diagnosis of vascular anomalies is often challenging due to the large variety of conditions, which exhibit phenotypic heterogeneity and a wide range of symptomology and severity. Accurate diagnosis is crucial for appropriate evaluation and management, often requiring multidisciplinary specialists. Recent interdisciplinary collaboration has led to collaborative studies and their outcomes are being prospectively evaluated. While there is still a role for surgical intervention in various vascular anomalies, discoveries of pharmacologic agents effective in treating vascular anomalies have broadened our medical therapeutic options. This paper focuses on vascular anomaly issues often seen by the pediatricians and reviews the clinical pearls on infantile hemangiomas, lymphatic malformations, venous malformations, and arteriovenous malformations.
Arteriovenous Malformations ; Blood Vessels ; Cooperative Behavior ; Diagnosis ; Hemangioma ; Population Characteristics ; Prospective Studies ; Specialization

Infantile hemangioma (IH) is the most common type of benign tumor during infancy. Due to their propensity to spontaneously involute, most IHs can be left untreated. However, IHs located in particular anatomic areas and those with complications need rapid and active treatment. It is often challenging for clinicians to predict which IHs are in need of systemic treatment. Data from various studies have revealed further insights into IH. The treatment options include propranolol, steroids, interferon-α, vincristine, surgical excision, and laser therapy. More infants are now treated with propranolol than were previously treated with oral corticosteroids, and the full implications of this shift in practice are not yet clear. This paper summarizes the pathogenesis, clinical course and current recommendations for management of IHs.
Adrenal Cortex Hormones ; Hemangioma* ; Humans ; Infant ; Laser Therapy ; Propranolol ; Steroids ; Vincristine

OBJECTIVEThis review discussed the available data on treatment outcomes of cord blood transplantation (CBT) for acute leukemia.

DATA SOURCESThe data cited in this review were obtained from articles listed in Medline and Pubmed.

STUDY SELECTIONWe reviewed the articles of clinical results from various registries and institutions, as well as our experiences with CBT in children, adolescents and adults.

RESULTSThis research has clearly shown that cord blood (CB) has several unique characteristics resulting in distinct advantage and disadvantages when compared to transplantation with unrelated donor bone marrow or peripheral blood stem cells. The field of CBT has advanced from investigating its safety and feasibility to addressing more specific issues such as accelerating engraftment, extending access, and examining outcomes in specific subgroups of patients. Many approaches have been investigated in the attempt to improve engraftment and survival. Variable factors have been identified, such as factors related to donor choice (human leukocyte antigen (HLA) compatibility, cell dose, and others) and transplantation (conditioning and graft-versus-host disease prophylaxis regimen). Data support that CB should be considered a reasonable option in those that do not have HLA matched sibling donor and for those in whom the time to transplant is critical.

CONCLUSIONSCB is a reasonable alternative to unrelated donor bone marrow or peripheral blood progenitor cells for transplantation. Recently developed strategies aimed at improving hematopoietic recovery and reducing early transplantation-related mortality could further improve treatment outcomes of CBT for patients with acute leukemia.

Hepatoblastoma, the most common primary liver tumor of early childhood, is a rare neoplasm, accounting for 0.8-2.0% of all pediatric cancers. The etiology is unknown. The most common method of testing for hepatoblastoma is alpha-fetoprotein (AFP). AFP is used as a biomarker for presence of residual liver tumor, therefore indicator of the successful treatment. Multimodal therapy is composed of chemotherapy and surgical intervention. In general, the cure of hepatoblastoma in children depends on complete resection of the primary tumor. While > or =90% of patients who undergone primary complete resection of their tumors can be cured, patients with unresectable or metastatic tumors show survival rate of < or =65%. Liver transplantation (LT) is a feasible treatment option for carefully selected patients who are free of extrahepatic disease prior to LT. The still dismal outcome of multifocal disseminated tumors warrants the investigation of new cytotoxic drug and substances against specific molecular targets.
alpha-Fetoproteins ; Child ; Drug Therapy ; Hepatoblastoma ; Humans ; Liver ; Liver Transplantation ; Survival Rate

Myelodysplastic syndrome (MDS) refers to a heterogeneous group of clonal blood disorders characterized by ineffective hematopoiesis, cytopenia, dysplasia, and an increased risk of acute myeloid leukemia (AML). A growing number of inherited genetic loci that contribute to MDS/AML development are rapidly being identified. As genetic sequencing has become increasingly integrated into clinical practice, clearly defined syndromes have emerged, known as the MDS/AML predisposition syndrome. With more patients and families being identified with predisposing conditions, knowledge of the approach of evaluating and managing MDS with genetic predisposition is increasingly essential. This article reviews MDS with genetic predisposition and the practical aspects of management in patients with predisposition syndrome.

Myelodysplastic syndrome (MDS) refers to a heterogeneous group of clonal blood disorders characterized by ineffective hematopoiesis, cytopenia, dysplasia, and an increased risk of acute myeloid leukemia (AML). A growing number of inherited genetic loci that contribute to MDS/AML development are rapidly being identified. As genetic sequencing has become increasingly integrated into clinical practice, clearly defined syndromes have emerged, known as the MDS/AML predisposition syndrome. With more patients and families being identified with predisposing conditions, knowledge of the approach of evaluating and managing MDS with genetic predisposition is increasingly essential. This article reviews MDS with genetic predisposition and the practical aspects of management in patients with predisposition syndrome.

Patients with inherited bone marrow failure syndrome (IBMFS) can develop peripheral blood cytopenia, which can ultimately progress to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Although some cases of IBMFS are diagnosed based on their typical presentation, variable disease penetrance and expressivity may result in diagnostic dilemmas. With recent advances in genomic evaluation including next-generation sequencing, many suspected cases of IBMFS with atypical presentations can be identified. Identification of the genetic causes of IBMFS has led to important advances in understanding DNA repair, telomere biology, ribosome biogenesis, and hematopoietic stem cell regulation. An overview of this syndromes is summarized in this paper.

Optic pathway gliomas (OPGs) are insidious, debilitating low-grade tumors. They can affect the optic nerve, optic chiasm, and optic tracts and can be sporadic or associated with neurofibromatosis type 1 (NF1). The location of OPGs within the optic pathway typically precludes complete resection or optimal radiation dose. Treatment is unnecessary for sporadic and NF1-related OPGs that do not cause visual impairments. Chemotherapy is the mainstay of treatment for patients with progressive disease. However, outcomes following standard treatments have been mixed, and standardized outcome measurements are lacking. In recent years, newer molecularly targeted therapies such as anti-vascular endothelial growth factor (VEGF) monoclonal antibody, mitogen-activated protein kinase (MAPK) inhibitor, and mammalian target of rapamycin (mTOR) inhibitor, represent a promising treatment modality.

BACKGROUND: The effects of chimerism on outcomes following allogeneic hematopoietic stem cell transplantation (HSCT) are unclear and may differ between diseases. We retrospectively evaluated the association between chimerism and transplant outcomes in children with nonmalignant diseases. METHODS: Chimerism was evaluated using short-tandem repeat polymerase chain reaction (STR-PCR) in 48 patients, with mixed chimerism (MC) defined as greater than 1% recipient cells. RESULTS: The only variable exerting a significant influence on patients' chimerism status was the number of infused CD34+ cells. MC was detected in 23 transplants (9 showing transient MC; 10 with sustained low levels [< or =30%] of autologous cells; and 4 with high-level MC [>30%]). The degree of STR-PCR at 28 days after HSCT was significantly higher in patients with high-level MC than those with transient or low-level MC. All patients with transient or low-level MC successfully maintained engraftment and showed a clinical response to HSCT, whereas 2 of the 4 patients with high-level MC experienced graft failure. The incidences of grades II-IV acute and chronic graft-versus-host disease (GVHD) were significantly higher in patients with complete donor chimerism (CC) than MC. We observed no significant survival differences between CC and MC groups. However, the survival rate was lower in patients with high MC than those with low-level or transient MC (P=0.03). CONCLUSION: In non-malignant diseases, MC may indicate a tolerant state with a decreased incidence of GVHD. However, high-level MC may signify an increased risk of graft failure and a lower survival rate.
Child ; Chimerism ; Graft vs Host Disease ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Humans ; Incidence ; Polymerase Chain Reaction ; Retrospective Studies ; Survival Rate ; Tissue Donors ; Transplants

Synovial sarcoma occurring in the pleura and lung is extremely rare. We report a case of pleuropulmonary synovial sarcoma as a second malignant neoplasm. The patient had been diagnosed with acute myelomonocytic leukemia at 5 years of age, and received matched sibling donor allogeneic bone marrow transplantation, with total body irradiation and cyclophosphamide conditioning. At 22 years of age, he complained of worsening chest discomfort and exertional dyspnea. Chest CT revealed a huge mass in the right middle lobe, pleura, and diaphragm. The patient was initially diagnosed as sarcomatoid malignant mesothelioma, without any environmental or occupational asbestos exposure. Five months later, the patient presented with soft tissue metastasis and underwent needle biopsy. Pathological examination including SYT-SSX RT-PCR revealed synovial sarcoma, which led to a review of the original tumor findings and confirmed the diagnosis of pleuropulmonary synovial sarcoma.To the best of our knowledge, our patient is the first case of pleuropulmonary synovial sarcoma developed after allogeneic hematopoietic stem cell transplantation.