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Carretto, Elena (2009) Tumori rari pediatrici come spia di sindromi genetiche: un report dal progetto TREP (Tumori Rari in Età pediatrici) su carcinoma renale e feocromocitoma. [Tesi di dottorato]

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Abstract (inglese)

We consider rare tumors in pediatric age those tumors with an incidence less than 2 cases/1.000.000 children/year, which are not included in treatment protocols of the Associazione Italiana di Emato-Oncologia Pediatrica (AIEOP). These tumors are object of a national project called TREP, aiming to register patients with rare tumors and promote studies of these cancers.
We hypothesize that infancy-onset of typically adulthood tumors, extremely rare in pediatric age, could be the expression of an underlying predisposing genetic condition. In fact, the earliest is the age of onset, the least is the exposition to environmental factors.
The renal cell carcinoma (RCC) occurs in a sporadic form or as part of genetic diseases, such as Von Hippel-Lindau disease.
Likewise, phechromocytoma and paraganglioma occur in a sporadic form or associated with hereditary disorders such as Von Hippel-Lindau disease, Hereditary Paraganglioma-Pheochromocytoma Syndrome, Multiple endocrine neoplasia type 2 (MEN2) syndrome and neurofibromatosis, type 1.
AIM
We report the preliminary results of a retrospective and prospective study of a TREP project aiming to evaluate the prevalence of main hereditary syndromes associated with renal cell carcinoma and pheochromocytoma in pediatric age.
MATERIALS AND METHODS.
Patients diagnosed with renal cell carcinoma or pheochromocitoma from January 2000 until May 2009 (age at diagnosis <18 years) and registered in the TREP, alive, with or without disease, were considered for this study. These patients were registered at 18 reference Italian Pediatric Surgery or Oncology centers.
Patients were contacted by the Reference Center in order to obtain blood DNA to detect germ-line mutation of the following genes:
VHL (Von Hippel-Lindau disease): in renal cell carcinomas and pheochromocytomas
RET (MEN2), SDHB, SDHC, SDHD (Hereditary Paraganglioma-Pheochromocytoma Syndrome): in pheochromocytomas only.
For patients with renal cell carcinoma, referring clinicians were asked to complete a questionnaire, aimed to enlighten the presence of signs and symptoms suggestive of the possible associated syndromes.
Mutation scanning of the VHL gene for identification of point or small size mutations was conducted on the entire coding sequence and intron-exon boundaries, by PCR amplification, DHPLC and direct sequence analysis. Quantitative Real Time PCR for the identification of deletions of part or the entire gene, was performed on genomic DNA fragments representing each VHL exon.
Genetic analysis of RET, SDHB, SDHC, SDHD genes was conducted by direct sequencing of coding sequence and intron-exon boundaries. For RET gene, exons 8, 10, 11, 13, 15 and 16 were sequenced. For SDHx genes, all 8 SDHB exons, all 6 SDHC and 4 SDHD exons were entirely sequenced. Rearrangement analysis was conducted by MLPA (Multiple Ligation Probe Assay).
Finally we analyzed clinical data in relation to the presence of genetic syndromes.
RESULTS
Genetic analysis was performed in 13 on 32 eligible patients with renal cell carcinoma. In all cases no mutation were found. In no case the questionnaire, completed in 11 patients, suggested the presence of an underlying genetic syndrome.
14 patients with pheochromocytoma (on 20 eligible) underwent the genetic analysis: we found a germ-line mutation in 7 (2 VHL, 1 SDHD, 4 SDHB) with an overall prevalence of 50%. When possible, genetic analysis was extended to family members: until now we found 9 mutations in SDHB gene and 1 mutation of SDHD.
From a clinical point of view our data support the role of a complete surgery of the tumor. Patients with genetic syndrome did not significantly differ from nonsyndromic ones in terms of clinical manifestations and prognosis.
CONCLUSIONS
As far as renal cell carcinoma is concerned, the limited number of cases analyzed until today does not allow to draw any significant conclusion. Particularly, we could not detect an association with VHL disease.
We found an high prevalence (50%) of genetic disorders associated with pheochromocytoma otherwise labeled "sporadics". This prevalence is higher than what reported in adulthood, confirming that the incidence of pheochromocytoma in pediatric age is more frequently associated to an inherited disorder.
Our data show that some rare tumors in pediatric age can be the first manifestation of a genetic syndrome. Both renal cell carcinoma and pheochromocytoma clinical outcome strictly depend on completeness of surgery; however these patients need to be considered also from a genetic point of view for the possible implication that a family cancer syndrome can have for the patient and other family members.

Abstract (italiano)

Consideriamo "tumori rari in età  pediatrica" quei tumori con un incidenza inferiore ai 2 casi/1.000.000 bambini/anno e che non sono inclusi in protocolli di trattamento dell'Associazione Italiana di Emato-Oncologia Pediatrica (AIEOP). Questi Tumori sono l'oggetto di un progetto nazionale denominato Progetto TREP che si propone fra gli obiettivi la registrazione dei pazienti con tumore raro e l'avvio di studi a loro dedicati.
Questo studio si basa sull'ipotesi che l'insorgenza in un bambino di un tumore tipico dell'età  adulta, ma estremamente raro in età  pediatrica possa essere l'espressione di una condizione genetica predisponente. Infatti più è precoce l'età  di insorgenza di un tumore meno è facile che sia avvenuta un' esposizione a fattori ambientali.
Il carcinoma renale (CR) può presentarsi in forma sporadica o come parte del quadro clinico di alcune malattie genetiche, tra cui la malattia di Von Hippel-Lindau.
Analogamente feocromocitoma e paraganglioma possono presentarsi sia in forma sporadica che associati ad alcune malattie geneticamente trasmissibili tra cui la malattia di Von Hippel-Lindau, la sindrome del feocromocitoma/paraganglioma ereditario, la sindrome da neoplasie endocrine multiple tipo 2 (MEN 2) e la neurofibromatosi tipo 1.
SCOPO
Nella tesi riportiamo i dati preliminari di uno studio retrospettivo e prospettico condotto nell'ambito del Progetto TREP, che ha lo scopo di valutare la prevalenza delle principali sindromi genetiche associate a carcinoma renale e a feocromocitoma in età  pediatrica.
MATERIALI E METODI
Sono stati considerati i pazienti con carcinoma renale e con feocromocitoma registrati nel Progetto TREP di età  <18 anni, con diagnosi da gennaio 2000 a maggio 2009 e vivi, con o senza evidenza di malattia, al momento dello svolgimento di questo studio. Questi pazienti sono stati registrati da 18 Centri italiani di Chirurgia o Oncologia Pediatrica.
I pazienti, sono stati ricontattati dal medico del centro di riferimento e gli è stato proposto di essere sottoposti a prelievo di sangue periferico per ricerca di alterazioni genetiche. In particolare sono state ricercate:
VHL (malattia di Von Hippel-Lindau): sia per i carcinomi renali che per i feocromocitomi
RET (MEN2), SDHB, SDHC e SDHD (sindrome del feocromocitoma/paraganglioma familiare): solo per i feocromocitomi.
Inoltre per i carcinomi renali è stato compilato dal clinico che aveva in cura il paziente un questionario che cercava di identificare sintomi e segni delle possibili sindromi associate.
L'analisi delle mutazioni del gene VHL per l'identificazione di mutazioni puntiformi o di piccola taglia è stata condotta sull'intera sequenza codificante e sulle zone di giunzione introne-esone attraverso amplificazione in PCR, DHPLC e sequenziamento diretto. La PCR Real Time quantitativa è stata utilizzata su frammenti di DNA genomico rappresentanti ogni esone del gene VHL per identificare delezioni di parti o dell'intero gene.
L'analisi genetica del gene RET e dei geni SDHB, SDHC ed SDHD è stata condotta mediante sequenziamento diretto delle regioni codificanti e delle regioni introniche fiancheggianti. Per il gene RET sono stati sequenziali gli esoni 8, 10, 11, 13, 15 e 16. Per quanto riguarda i geni SDHx sono stati sequenziati interamente gli 8 esoni di SDHB, i 6 di SDHC e i 4 di SDHD; inoltre è stata condotta l'analisi dei riarrangiamenti mediante MLPA (Multiple Ligation Probe Assay).
Abbiamo infine analizzato i risultati del trattamento correlandoli alla presenza di una sindrome genetica.
RISULTATI
Per quanto riguarda i carcinomi renali sono stati identificati 32 pazienti eligibili al nostro studio. La scheda anamnestica è stata somministrata in 11 pazienti, e non ha posto in nessun paziente il sospetto clinico di una sindrome genetica associata. L'analisi genetica per VHL è stata condotta in 13 pazienti ed in tutti i casi ha dato esito negativo.
Clinicamente la prognosi è apparsa correlata con lo stadio e quindi con la chirurgia: i pazienti con tumore localizzato asportato completamente hanno mostrato un' ottima sopravvivenza.
Per i feocromocitomi l'analisi genetica è stata condotta in 14 pazienti su 20 eligibili ed ha evidenziato una mutazione germinale in 7 (2 VHL, 1 SDHD, 4 SDHB) con una prevalenza totale del 50%. Ove possibile l'analisi genetica è stata estesa anche ai familiari: finora sono stati identificati 9 familiari con mutazione del gene SDHB e uno con mutazione di SDHD.
Dal punto di vista clinico i nostri dati confermano l'importanza di una chirurgia completa del tumore. Non è stata riscontrata una differenza significativa nelle manifestazioni cliniche e nella prognosi dei pazienti sindormici quando confrontati a quelli non sindormici.
CONCLUSIONI
Per quanto riguarda il carcinoma renale, non siamo riusciti ad evidenziare una associazione con la sindrome di VHL, ma la limitata numerosità del campione esaminato ci permette di trarre solo delle conclusioni preliminari.
Nei feocromocitomi abbiamo riscontrato un' elevata prevalenza (50%) di sindromi genetiche associate. Tale frequenza è superiore rispetto a quanto riportato in casistiche di pazienti adulti confermando che l'insorgenza di un feocromocitoma in età  pediatrica è maggiormente associata ad una sindrome genetica.
I nostri dati dimostrano che alcuni tumori rari per l'età pediatrica possono rappresentare la prima manifestazione di una sindrome genetica. Il risultato del trattamento è strettamente correlato all' esito della chirurgia sia per i carcinomi renali che per il feocromocitoma. E' però importante sottolineare che oltre le problematiche inerenti al trattamento vanno considerate quelle di tipo genetico per le implicazioni che una family cancer syndrome può avere per la famiglia e il paziente stesso.


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Tipo di EPrint:Tesi di dottorato
Relatore:Bisogno, Gianni - Cecchetto, Giovanni
Dottorato (corsi e scuole):Ciclo 20 > Scuole per il 20simo ciclo > MEDICINA DELLO SVILUPPO E SCIENZE DELLA PROGRAMMAZIONE > MALATTIE RARE
Data di deposito della tesi:NON SPECIFICATO
Anno di Pubblicazione:28 Luglio 2009
Parole chiave (italiano / inglese):Tumori rari, carcinoma renale, feocromocitoma, paraganglioma, VHL, SDHB, SDHC, SDHD
Settori scientifico-disciplinari MIUR:Area 06 - Scienze mediche > MED/20 Chirurgia pediatrica e infantile
Struttura di riferimento:Dipartimenti > Dipartimento di Pediatria
Codice ID:2136
Depositato il:10 Mar 2010 11:01
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