[Early symptoms of childhood malignant diseases]. / A gyermekkori malignus betegségek kezdeti tünettana.

INTRODUCTION: Childhood malignant diseases are rare in pediatric pathology. Early symptoms are not specific, fatigue, pallor, compression signs and bone marrow failure are often mentioned. AIM: To summarize the most frequent early symptoms of childhood malignancies in order to help the physicians in the early recognition. METHOD: In our retrospective study, we processed a period of 5 years between 2012-2016, with an accent on the onset manifestations of malignancies. RESULTS: In this period 34 cases were admitted with a diagnosis of malignant disease to our department. The most important symptoms were fever, fatigue, weight loss, pain, adenopathy, infections, and signs of anemia or thrombocytopenia. CONCLUSIONS: Childhood acute leukemia mostly occurs with adenopathy, fever, bone pain and signs of anemia. Solid tumors in their early stages may present with fatigue, pain and compression symptoms. The responsibility of the first physician is major in recognizing the most important early signs. Orv Hetil. 2017; 158(21): 829-834.

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

Congenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors. Screening for CDG in suspected cases is usually performed in the first year of life by serum transferrin isoelectric focusing or mass spectrometry. Based on the transferrin analysis patients can be biochemically diagnosed with a type 1 or type 2 transferrin pattern, and labeled as CDG-I, or CDG-II. The diagnosis of CDG is frequently delayed due to the highly variable phenotype, some cases showing single organ involvement and others mimicking syndromes, like skeletal dysplasia, cutis laxa syndrome, or congenital muscle dystrophy. The aim of our study was to evaluate perinatal abnormalities and early discriminative symptoms in 58 patients consecutively diagnosed with diverse CDG-subtypes. Neonatal findings and clinical features in the first months of life were studied in 36 children with CDG-I and 22 with CDG-II. Maternal complications were found in five, small for gestational age in nine patients. Five children had abnormal neonatal screening results for hypothyroidism. Congenital microcephaly and neonatal seizures were common in CDG-II. Inverted nipples were uncommon with 5 out of 58 children. Dysmorphic features were mostly nonspecific, except for cutis laxa. Early complications included feeding problems, cardiomyopathy, thrombosis, and bleeding. Cases presenting in the neonatal period had the highest mortality rate. Survival in CDG patients is highly dependent on early intervention therapy. We recommend low threshold screening for glycosylation disorders in infants with neurologic symptoms, even in the absence of abnormal fat distribution. Growth retardation and neonatal bleeding increase suspicion for CDG.

[Hereditary spherocytosis in the experience of two pediatric clinics from Targu Mures]. / Herediter spherocytosis a marosvásárhelyi gyermekhematológia osztály tapasztalatában.

Introduction: Hereditary spherocytosis is a genetically determined familial hemolytic anemia. Clinically it is ranged from an asymptomatic condition to severe hemolytic anemia. The major complications are aplastic or megaloblastic crisis, hemolytic crisis, cholecystitis and cholelithiasis. Aim: To shortly summarize the most characteristic symptoms of hereditary spherocytosis from the prism of our centers in order to help primary care-physicians or pediatricians in this affection recognition. Method: In our retrospective study, we processed a period of 6 years between 2012-2017, we studied the clinical signs, laboratory and imagistical findings, evolution and complications. Results: In this period, 47 cases were admitted with hereditary spherocytosis diagnosis to our departments. The most frequent symptoms were jaundice, hepato- and splenomegaly. The observed complications were: hemolytic crisis, aplastic crisis, cholecystitis and cholelithiasis. Conclusion: The main diagnostic elements are anamnesis, clinical signs, laboratory findings and anamnestic data. Early diagnosis is extremely important in order to provide substitution therapy and correct imagistic and hematologic controls. Orv Hetil. 2019; 160(45): 1798-1803.

Giant tubular adenoma with malignancy clinical characteristics in a female teenager: Case report and a review of the literature.

BACKGROUND: Adenomas of the colon are usually benign tumors which carry a tendency for malignancy. These tumors can be villous, tubular, tubulovillous, or sessile serrated. Those with adenomatous structure can develop malignant characteristics in 1.5% to 9.4% of cases. METHODS: We present a case report of a 16-year-old female adolescent with an adenoma of the descending colon. History revealed prolonged diarrheic syndrome for the past 6 months, repeated headache, and a weight loss of ∼5 kg in the past month. One week before the admission, the patient presented an episode of inferior digestive hemorrhage. RESULTS: On admission laboratory tests revealed iron deficiency anemia, and a mildly increased erythrocyte sedimentation rate. The abdominal ultrasound revealed an inhomogeneous mass of the descending colon and 2 hyperechoic lesions in the liver. The colonoscopy showed a tumor of the descending colon, a tubular adenoma according to the pathological examination. Additionally, we noted an atypical presentation of the tumor and the signs of mild dysplasia identified at the pathological examination. CONCLUSION: Weight loss, bowel transit alterations, loss of appetite, and inferior hemorrhage in an adolescent can be symptoms of a benign or malignant tumor of the colon.

Real-time quantitative PCR detection of WT1 and M-BCR-ABL expressions in chronic myeloid leukemia.

UNLABELLED: The Philadelphia chromosome and the resulting BCR-ABL fusion gene represent the hallmark event in chronic myeloid leukemia (CML) and their discoveries radically changed the management of these patients. Currently Wilms tumor 1 gene (WT1) is intensively investigated as high WT1 expression levels have been demonstrated in case of multiple solid tumors and malignant hematological syndromes (acute myeloid and lymphoid leukemia, myelodysplastic syndromes and chronic myeloid leukemia). The aim of our study was to investigate the WT1 expression in CML patients and its possible contribution to disease evolution. PATIENTS AND METHODS: In the Laboratory of Molecular Biology, University of Medicine and Pharmacy of Tirgu Mures, Romania, we regularly determined the M-BCR-ABL and WT1 expression levels by RQ-PCR (real-time quantitative polymerase chain reaction) testing in case of 19 CML patients: six patients monitorized from the diagnosis and 13 patients first tested during therapy. RESULTS: Eight CML (four advanced stage and four CP) patients showed high WT1 expression level, and in case of 11 patients the WT1 expression levels were undetectable or lower than 0.02%. The only significant difference between the high and low WT1 expression groups was represented by the clinical stage. In the majority of pretreated patients (10 out of 13 patients), the WT1 expression levels were low or undetectable. CONCLUSIONS: High WT1 expression in CML patients is detected especially in the advanced stages of the disease. Efficient Imatinib therapy may contribute to low WT1 levels in CP patients.

Mandibular ameloblastic carcinoma in a young patient.

Ameloblastic carcinoma is a rare cause of jaw tumors, especially in children. This rare, rapidly growing, malignant tumor of odontogenic origin affects predominantly the mandible and maxilla. Hypercellularity, lack of differentiation, high mitotic index, vascular and neural invasion are its main histological features. Local destruction and distant metastases to the lungs, bones, liver and brain are common in ameloblastic carcinoma. Prognosis is poor, due to its low sensitivity to chemo- and radiotherapy. We report the case of an 8-year-old girl with ameloblastic carcinoma of the left mandible and extensive right pleuro-pulmonary and bone marrow metastases. Biopsies made from the mandibular tumor and lung tumor tissue obtained by bronchoscopy, showed the same histological features, that of ameloblastic carcinoma. Diagnostic and treatment challenges are shown in this uncommon pediatric solid tumor of the jaw. Carboplatin and etoposide treatment showed some therapeutic effect upon the primary tumor, but lung infiltrations were not influenced. Palliative treatment was initiated. Early detection of ameloblastic carcinoma, before massive distant metastases develop would be an option for long-term survival, which can be achieved with radical surgery followed by radiotherapy.

Follow-up of childhood chronic myelogenous leukemia with monitoring the BCR-ABL fusion gene expression in peripheral blood.

UNLABELLED: Chronic myelogenous leukemia (CML) accounts for 15-20% of adult leukemias but is very rare in children (2%). Fewer than 10% of CML patients are younger than 20 years. CML is a myeloproliferative disorder characterized by the presence of the Philadelphia chromosome or the BCR-ABL fusion oncogene. The objective of this paper is to present the monitoring of imatinib therapy in two children with CML by the BCR-ABL fusion gene expression assessment from peripheral blood with quantitative real-time polymerase chain reaction (PCR) method. PATIENTS AND METHODS: The 18 and six months follow-up of the patients included clinical examination, routine laboratory tests, bone marrow aspirate investigation including cytogenetic tests and the major BCR-ABL fusion gene expression measurement with qRT-PCR method from the peripheral blood. RESULTS: Patient No. 1 diagnosed with chronic phase CML showed excellent adherence to daily 400 mg imatinib treatment and achieved complete hematologic (CHR) and cytogenetic response (CCR) by three months and major molecular response (MMR) by 12 months, with lack of side effects due to imatinib. Patient No. 2 experienced severe hematologic toxicity, which necessitated temporary withdrawal of the drug. Transient non-compliance together with imatinib dose reduction has driven to treatment failure. In this case, mutational analysis is warranted. CONCLUSIONS: BCR-ABL fusion gene expression level measurement from peripheral blood with qRT-PCR method is an excellent tool in the follow-up of CML patients.