Identifying patients with a genetic predisposition for developing malignant tumors has a significant impact on both the patient and family. Recognition of genetic predisposition, before diagnosing a malignant pathology, may lead to early diagnosis of a neoplasia. Recognition of a genetic predisposition syndrome after the diagnosis of neoplasia can result in a change of treatment plan, a specific follow-up of adverse treatment effects and, of course, a long-term follow-up focusing on the early detection of a second neoplasia. Responsible for genetic syndromes that predispose individuals to malignant pathology are germline mutations. These mutations are present in all cellsof conception, they can be inherited or can occur de novo. Several mechanisms of inheritance are described: Mendelian autosomal dominant, Mendelian autosomal recessive, X-linked patterns, constitutional chromosomal abnormality and non-Mendelian inheritance. In the following review we will present the most important genetic syndromes in pediatric oncology.
Langerhans cell histiocytosis (LCH) is a myeloproliferative neoplasm of pathologic dendritic cells, usually occurring in children. Clinical presentations of LCH vary from single lesions to life-threatening disseminated disease. There is a constant delay in reaching the diagnosis. This case report intends to bring clinicians up to date on the manifestations, diagnostic tools and treatment of this rare pathology while also highlighting the central nervous system involvement in LCH.
Background: Improved diagnostic and treatment methods in childhood cancer determined a significant increase in survival in the last decades. However, despite these important progresses, there is still a significant difference in survival between developed countries compared to developing and underdeveloped countries. For more insight into these differences we studied treatment results of the Paediatric Department of the Institute of Oncology "Prof. Dr. I. Chiricuta" from Romania between 1996-1999. Design/Methods: We included 202 patients under the age of 18, diagnosed and treated for malignant tumours in our Department. Data about diagnosis, treatment, acute toxicities, treatment response, relapse (date, treatment, response), second cancer were extracted from patient files. Survival curves were calculated with the Kaplan Meier method. Results: From the 202 patients included in our study 41.6% (84) were diagnosed with malignant blood disorders and 58.4% (118) with solid tumours.After completing the primary treatment, 146 patients (72.3%) showed complete response, 14 patients (6.9%) showed partial response, 6 patients (3%) showed stable disease, and 36 patients (17.8%) showed progressive disease. The median follow-up was 245.9 months (20.5 years). OS at 20 years was 58% for the entire studied group (CI: 51-64%), while DFS was 53% (CI: 46-60%). The second neoplasia was diagnosed in 3 patients (1.48%) of the studied group. Conclusion: Access to treatment and application of current therapeutic protocols has a major impact on survival in paediatric oncology. Our results show promise, however they were lower than in developed countries in the same period of time.
(1) Background: Survival in childhood cancer has improved significantly over the last decades. However, early deaths (EDs) represent an important number of preventable deaths. Our aim was to provide more insight intoEDs in developing countries. (2) Methods: We conducted a retrospective analysis of patients aged 0–18 years with childhood cancer diagnosed between 1996 and 2008 and admitted in the Institute of Oncology “Prof. Dr. Ion Chiricuta” Cluj-Napoca (IOCN), Romania. After exclusion of patients (pts) older than 18 years at diagnosis, pts with a missing personal identification number and pts with unconfirmed diagnosis of malignancy, we included 783 pts in the final analysis. We defined ED as survival of less than one month after cancer diagnosis. We divided pts in groups according to age, major tumour categories and treatment time periods. (3) Results: ED was registered in 20 pts (2.55%). A total of 16EDs were registered in haematologic malignancies and 4 in solid tumours. Statistical analysis was performed on pts diagnosed with haematological malignancies. A statistically significant higher proportion of patients with performance status (PS) 3 and 4 died within one month after diagnosis (24.1%) than patients admitted with PS 0–2 (1%)—p < 0.01. We found no statistically significant difference regarding ED when comparing male versus female (p = 0.85), age at diagnosis or between the threeperiods of diagnosis (p = 0.7). (4) Conclusions: PS at admission is an important risk factor associated with ED in pts with haematologic malignancies. ED in our institution reflects frequent late presentation for medical care, late diagnosis and referral to specialised centres.
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