BACKGROUND/AIMS: Melanoma antigen gene (MAGE)-A which have more than 12 subtypes is a gene family for tumor specific shared antigens, recognized by the cytotoxic T cell. Since these genes are expressed only in tumor cells and silent in normal adult tissues except in the male germ line, they may be used as diagnostic markers in detecting malignancy. During the carcinogenesis of gastrointestinal tract, the hyperplastic epithelium-adenoma-adenocarcinoma sequence is largely accepted and the molecular studies on each step have been issued. However, in the aspect of carcinogenesis in the gastrointestinal tract, MAGE genes have not studied yet. To explore the functional role and clinical significance of MAGE-A genes in the carcinogenesis of the colon, mRNA expression of MAGE-A1 to -A6 in the mucosal tissues obtained from the colonoscopy was investigated and the relationship between their expressions and clinicopathologic parameters was analysed. METHODS: We investigated the expression of MAGE 1~6 in 65 endoscopically biopsied samples of neoplastic and nonneoplastic tissues from the colon, using a MAGE common primer by the reverse transcription-nested polymerase chain reaction and DNA sequencing. RESULTS: Of the 31 colorectal adenocarcinoma specimens examined, MAGE genes were expressed in 11 cases (36%). In contrast, no expression of these genes was observed in any of the 12 samples of tubular adenoma and 12 of non-specific colitis and 5 cases of normal colonic tissues. There was no significant correlation between the expression of the MAGE genes and clinicopathologic factors, such as gender, disease stage, lymph node metastasis and perineural and vascular invasion in colonic carcinoma. CONCLUSIONS: It is postulated that the expression of MAGE genes could reflect the late event of oncogenesis of the colon because no MAGE expression was noticed in chronic inflamamtion and adenomas which might have the important role in the process of malignant transformation.
Adenocarcinoma ; Adenoma ; Adult ; Carcinogenesis* ; Colitis ; Colon* ; Colonic Neoplasms ; Colonoscopy ; Gastrointestinal Tract ; Genes, vif ; Germ Cells ; Humans ; Lymph Nodes ; Male ; Melanoma ; Mucous Membrane ; Neoplasm Metastasis ; Polymerase Chain Reaction ; RNA, Messenger ; Sequence Analysis, DNA

We present a case of abrupt-onset hemorrhagic tendency in a patient with amyloidosis who also had asymptomatic plasma cell myeloma. The patient was a 66-yr-old man with no previous history of hemorrhagic tendency and no family history of hemorrhagic disease. On examination, the prothrombin time and activated partial thromboplastin time were found to be prolonged and were not corrected even after a mixing test; moreover, the levels of coagulation factors I, II, V, VII, and X were almost normal. We therefore considered the presence of a nonspecific coagulation inhibitor. Although the von Willebrand factor (vWF) activity and vWF antigen level were normal due to sampling following transfusion, the increased closure time on PFA-100 (Siemens) analysis and the absence of ristocetin-induced platelet aggregation suggested the presence of acquired von Willebrand syndrome (vWS). After chemotherapy, the patient showed alleviation in the bleeding symptoms. Therefore, testing for acquired vWS should be considered when a patient has a history of recent bleeding with underlying amyloidosis.
Amyloidosis ; Blood Coagulation Factors ; Hemorrhage ; Humans ; Light ; Multiple Myeloma ; Partial Thromboplastin Time ; Plasma ; Plasma Cells ; Platelet Aggregation ; Prothrombin Time ; von Willebrand Factor

BACKGROUND: Immune thrombocytopenic purpura (ITP) in children less than one year of age is less well characterized compared to ITP in toddlers and school-age children. Since children of different ages may have differing clinical courses, better delineation of the natural history of ITP in infants is needed. METHODS: We retrospectively reviewed the admission records of 248 consecutive pediatric patients between 1 month and 15 years of age who were admitted and treated for acute ITP at Pusan National University Children's Hospital from 2009 through 2017. All patients less than 1 year of age were identified and enrolled in this study. We investigated their demographics, clinical features, laboratory examinations, response to treatment, and long-term outcomes and made a comparison to those of children aged 1 to 10 years of age. RESULTS: Ninety nine infants were identified. Male to female ratio was highest in infants and decreased with age. Seventy nine (79.8%) of the 99 infant were found to be under 6 months old. The median platelet counts at diagnosis was 6×10⁹/L. Minor bleeding (bleeding score 0–2) was significantly dominant in infant compared to older subjects. Eighty two (96.5%) out of 85 patients achieved complete remission after initial intravenous immunoglobulin (IVIG) treatment. The relapse rate after initial CR was significantly lower than older ages (P=0.003). The platelet count after IVIG treatment in infant showed more rapid response compared to older subjects (P=0.04). Follow up information at 12 months was available for 70 infants. Chronic ITP at 12 month was seen less frequently in infants than in children 1 to 10 years of age (1.4% vs. 20.2%, P<0.001). CONCLUSION: Infants with acute ITP respond more favorably to IVIG treatment and are less likely to develop chronic ITP compared to children 1 to 10 years of age.
Busan ; Child ; Demography ; Diagnosis ; Female ; Follow-Up Studies ; Hemorrhage ; Humans ; Immunoglobulins ; Immunoglobulins, Intravenous ; Infant ; Male ; Natural History ; Platelet Count ; Purpura, Thrombocytopenic, Idiopathic ; Recurrence ; Retrospective Studies

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a very rare hematological malignancy in children that is characterized by bruise-like skin lesions, with or without bone marrow involvement. Because the clinical course of BPDCN is highly aggressive and fatal in adults, allogeneic hematopoietic stem cell transplantation (HSCT) is recommended as the optimal treatment. Due to its rarity, the pediatric experience with BPDCN is limited and standard treatment has so far not been defined. We report a case of a 14-year-old boy with BPDCN involving the skin, bone marrow and lymph nodes. The patient was treated with high-risk group acute lymphoblastic leukemia protocol. He achieved a complete remission after induction chemotherapy and still maintains clinical remission without HSCT for 17 months after initial diagnosis.
Adolescent ; Adult ; Bone Marrow ; Child ; Dendritic Cells ; Diagnosis ; Hematologic Neoplasms ; Hematopoietic Stem Cell Transplantation ; Humans ; Induction Chemotherapy ; Lymph Nodes ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Skin

BACKGROUND: Currently, data on the role of tacrolimus and mini-dose methotrexate (MTX) in pediatric unrelated hematopoietic stem cell transplantation (HSCT) is limited. We report the outcomes of unrelated hematopoietic stem cell recipients, evaluating engraftment status, incidence of acute and chronic graft-versus-host disease (GVHD) and toxicities after use of tacrolimus and mini-dose MTX for GVHD prophylaxis.METHODS: Thirty-five children who received tacrolimus and mini-dose MTX as prophylaxis from January 2004 to December 2013 were reviewed. All patients received tacrolimus beginning the day prior to transplant at a dose of 0.03 mg/kg/day by continuous intravenous infusion. MTX was administered at a dose of 5 mg/m2 IV on days 1, 3, 6 and 11.RESULTS: Median age at transplantation was 8.42 years (range 0.75-18.9 years). Seventeen patients received human leukocyte antigen (HLA) fully matched donor transplants and 18 received partially mismatched transplants. All but two patients who received unrelated cord blood transplants showed successful engraftment. The median time to ANC recovery was 12 days. The incidence of acute GVHD was 33.3% including 15.1% grade III-IV GVHD. Localized chronic GVHD developed in only 2 of 27 (7.4%) evaluable patients. Lower tacrolimus levels during days 1-21 were associated with a higher incidence of acute GVHD (P=0.033). The estimated 4-year event free survival and overall survival of the patients were 71.2% and 80.0%.CONCLUSION: Overall, the combination of tacrolimus and mini-dose MTX could be effectively administered in the setting of pediatric unrelated HSCT.
Child ; Disease-Free Survival ; Fetal Blood ; Graft vs Host Disease ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Humans ; Incidence ; Infusions, Intravenous ; Korea ; Leukocytes ; Methotrexate ; Tacrolimus ; Tissue Donors

Video capsule endoscopy (VCE) is an ingestible video camera that transmits high-quality images of the small intestinal mucosa. This makes the small intestine more readily accessible to physicians investigating the presence of small bowel disorders, such as Crohn's disease (CD). Although VCE is frequently performed in Korea, there are no evidence-based guidelines on the appropriate use of VCE in the diagnosis of CD. To provide accurate information and suggest correct testing approaches for small bowel diseases, the Korean Gut Image Study Group, part of the Korean Society of Gastrointestinal Endoscopy, developed guidelines on VCE. Teams were set up to develop guidelines on VCE. Four areas were selected: diagnosis of obscure gastrointestinal bleeding, small bowel preparation for VCE, diagnosis of CD, and diagnosis of small bowel tumors. Three key questions were selected regarding the role of VCE in CD. In preparing these guidelines, a systematic literature search, evaluation, selection, and meta-analysis were performed. After writing a draft of the guidelines, the opinions of various experts were solicited before producing the final document. These guidelines are expected to play a role in the diagnosis of CD. They will need to be updated as new data and evidence become available.
Capsule Endoscopy* ; Crohn Disease* ; Diagnosis ; Endoscopy, Gastrointestinal ; Hemorrhage ; Intestinal Mucosa ; Intestine, Small ; Korea ; Writing

Purpose: Human parvovirus B19 infection is widespread and has a heterogeneous clinical spectrum, ranging from asymptomatic infection to potentially life-threatening complications. We investigated the various clinical features of human parvovirus B19 infection during an outbreak of the virus in our community. Methods: A retrospective chart review study was conducted at the Pusan National University Children's Hospital from December 2017 to April 2019. We investigated the clinical features of children with parvovirus B19 immunoglobulin M or parvovirus B19 DNA detected using polymerase chain reaction. Results: A total of 24 children were diagnosed with parvovirus B19 infection. Twelve (50%) had lace form rashes, and four (16.7%) had petechial rashes. Two (8.3%) were diagnosed with fever without a focus. Six (25%) developed aplastic crisis as a complication of infection, of whom three were previously diagnosed with hereditary spherocytosis and three with acute lymphoblastic leukemia. Conclusions In addition to erythema infectiosum, the parvovirus B19 infection can present clinically with various types of rashes and fever without a focus. Furthermore, hematologic manifestations such as neutropenia and aplastic crisis can occur during infection.

Isolated extramedullary relapse (EMR) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in acute myeloid leukemia (AML) is relatively rare and the clinical significance is still not well characterized, particularly in children. During or after chemotherapy, an uncommon event termed lineage switch, in which the lineage at onset of leukemia converts to another lineage at a later time, is observed in a subset of leukemia patients, but it is a rare event. We report a 10-year-old boy with isolated mediastinal EMR after allo-HSCT for AML who subsequently experienced BM relapse with the cell lineage switching from AML to T-cell acute lymphoblastic leukemia.

Spontaneous rupture with internal bleeding of solid tumors has rarely been described at the time of diagnosis or during chemotherapy. This rare event must be regarded as a life threatening condition. In these emergency situations, control of hemorrhage, which is life-saving, can be achieved by transcatheter arterial embolization (TAE) and/or surgical resection. This report describes two infants presenting with acute hemorrhagic shock due to spontaneous tumor rupture of hepatoblastoma and neuroblastoma during chemotherapy. TAE successfully arrested the tumor bleeding and a visibly reduced the tumor size in both children. Spontaneous rupture of solid tumors occur infrequently in children, but is a life threatening situation. Careful monitoring for the occurrence of this rare event especially in very young children presenting with a large tumor mass.
Child ; Diagnosis ; Drug Therapy ; Emergencies ; Hemorrhage ; Hepatoblastoma ; Humans ; Infant ; Neuroblastoma ; Rupture ; Rupture, Spontaneous ; Shock, Hemorrhagic

BACKGROUND: Venous thromboembolism (VTE) is rare in pediatric patients compared to adults, but it's incidence is gradually increasing. The purpose of this study was to analyze the incidence, risk factors, and prognosis of pediatric patients with VTE in Korea. METHODS: Between January 2000 and July 2017, 249,312 medical records of the patients older than 1 year who were hospitalized in the department of pediatrics of 10 university hospitals in Yeungnam region were retrospectively reviewed. RESULTS: The overall incidence of VTE was 4.9 per 10,000 admissions. Of the total 123 patients, 80 (65.0%) were male and the median age was 10.8 years (range, 1.0–23.5 years). Magnetic resonance imaging was performed most frequently to confirm the diagnosis of VTE (43.1%). Thrombosis occurred in the cerebral vessels (46.3%), lower extremities (23.8%), pulmonary (19.5%), abdomen (9.8%), and upper extremities (4.1%). One hundred and six patients had underlying causes such as cancer (27.6%), infection (26.8%), intravenous catheter insertion (17.9%), and surgery (14.6%). Protein C was evaluated in 39 patients (31.7%), protein S in 40 (32.5%), antithrombin (AT) III in 52 (42.3%), and homocysteine in 21 (17.1%). Among them, one patient with a family history of AT III deficiency had SERPINC gene mutation. Seventy-seven patients (62.6%) started anticoagulation treatment. Most (52.0%) were treated for more than 90 days. CONCLUSION: Healthcare providers must be aware of the potential for VTE development in childhood. In the near future, a nationwide survey should be investigated to determine the incidence rate and the trends in VTE among Korean children.
Abdomen ; Adult ; Catheters ; Child ; Diagnosis ; Epidemiology ; Health Personnel ; Homocysteine ; Hospitals, University ; Humans ; Incidence ; Korea* ; Lower Extremity ; Magnetic Resonance Imaging ; Male ; Medical Records ; Pediatrics ; Prognosis ; Protein C ; Protein S ; Retrospective Studies ; Risk Factors ; Thrombosis ; Upper Extremity ; Venous Thromboembolism*