Oncologia pediatrica: le tappe della diagnosi
1UO di Ematologia e Oncologia Pediatrica; 2Scuola di Specializzazione di Pediatria; 3Medico Frequentatore
Università di Modena e Reggio Emilia
PAEDIATRIC ONCOLOGY: EVOLUTION OF THE DIAGNOSTIC APPROACH
Childhood tumours, Diagnosis, Research progresses
The objective of cure for more than 70% of children with cancer outlines the successful routes built up
by paediatric oncologists over the latest 40 years. This successful story stands for the development and
evolution of the diagnostic routes where the clinical diagnosis of a paediatric tumour still represents
a fundamental step. Indeed, as opposed to adult tumours, primary and secondary prevention do not
work in paediatric oncology. Childhood tumours derive mainly from embryonic cells, i.e. undifferentiated
resting stem cells, as opposed to adult tumours deriving generally from differentiated proliferating
cells mainly of epithelial origin (carcinomas). As a consequence, the former cells lack of
markers useful for their indirect identification, the latter cells need to enter processes of “de-differentiation”,
which favour the production of more and more easily identifiable tumour markers (precocious
diagnosis). Nevertheless, clinical diagnosis developed in strict conjunction with a number of research
progresses in the fields of cytomorphology, immunophenotyping, cytogenetics and molecular genetics
stands as a fundamental step. A precise identification of tumour cells by differential diagnosis
is the first element of a successful treatment, since tumours show wide variation in response to specific
therapies and their misdiagnosis can lead to suboptimal therapy. In recent years, knowledge of the
molecular genetics of childhood cancers has been increasing at an exponential rate. The study of the
molecular mechanisms of oncogenesis has led to an understanding of the role that tumour suppressors,
oncogenes, and deoxyribonucleic acid (DNA) repair genes play in the development of the disease.
Chromosomal translocations can lead to the disruption of growth regulatory genes and/or the
formation of growth stimulatory fusion genes in leukaemias and some solid tumours. These alterations
can occur sporadically or can be inherited, which often leads to cancer in children or young adults.
Therefore, the development of more specific diagnostic tools, allowing a continuous reassessment of
the bio-molecular features of paediatric tumours, has prompted important improvements of patients’
risk group definition in order to develop more and more targeted clinical trials. Finally, it is conceivable
that the progress of our understanding of the molecular bases of the neoplastic transformation
will open more opportunities to interfere directly with genes and their products altered inside the tumour cell.
Vuoi citare questo contributo?
P. Paolucci, I. Mariotti, E. Bigi, et al.. ONCOLOGIA PEDIATRICA: LE TAPPE DELLA DIAGNOSI.
Medico e Bambino 2009;28:85-93
L'accesso è riservato agli abbonati
alla rivista che si siano registrati
Per accedere all'articolo in formato full text
è necessario inserire username
La riproduzione senza autorizzazione è vietata. Le informazioni di tipo sanitario
contenute in questo sito Web sono rivolte a personale medico specializzato e non possono
in alcun modo intendersi come riferite al singolo e sostitutive dell'atto medico. Per
i casi personali si invita sempre a consultare il proprio medico curante. I contenuti
di queste pagine sono soggetti a verifica continua; tuttavia sono sempre possibili
errori e/o omissioni. Medico e Bambino non è
responsabile degli effetti derivanti dall'uso di queste informazioni.
Unauthorised copies are strictly forbidden. The medical information contained in the present web site is only addressed to specialized medical staff and cannot substitute any medical action. For personal cases we invite to consult one's GP. The contents of the pages are subject to continuous verifications; anyhow mistakes and/or omissions are always possible. Medico e Bambino is not liable for the effects deriving from an improper use of the information.