Childhood Adrenocortical Tumours: a Review
<p>Abstract</p> <p>Childhood adrenocortical tumour (ACT) is not a common disease, but in southern Brazil the prevalence is 15 times higher than in other parts of the world. One hundred and thirty-seven patients have been identified and followed by our group over the past four decad...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2006-05-01
|
| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | http://www.hccpjournal.com/content/4/2/81 |
| _version_ | 1811248132638375936 |
|---|---|
| author | Marques-Pereira Rosana DeLacerda Luiz Lacerda Hadriano M Michalkiewicz Edson Sandrini Fabiano Sandrini Romolo |
| author_facet | Marques-Pereira Rosana DeLacerda Luiz Lacerda Hadriano M Michalkiewicz Edson Sandrini Fabiano Sandrini Romolo |
| author_sort | Marques-Pereira Rosana |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Childhood adrenocortical tumour (ACT) is not a common disease, but in southern Brazil the prevalence is 15 times higher than in other parts of the world. One hundred and thirty-seven patients have been identified and followed by our group over the past four decades. Affected children are predominantly girls, with a female-to-male ratio of 3.5:1 in patients below 4 years of age. Virilization alone (51.6%) or mixed with Cushing's syndrome (42.0%) was the predominant clinical picture observed in these patients. Tumours are unilateral, affecting both glands equally. <it>TP53 </it>R337H germline mutations underlie most childhood ACTs in southern Brazil. Epidemiological data from our casuistic studies revealed that this mutation has ~10% penetrance for ACT. Surgery is the definitive treatment, and a complete resection should always be attempted. Although adjuvant chemotherapy has shown some encouraging results, its influence on overall outcome is small. The survival rate is directly correlated to tumour size; patients with small, completely excised tumours have survival rates close to 90%, whereas in those patients with inoperable tumours and/or metastatic disease it is less than 10%. In the group of patients with large, excisable tumours, half of them have an intermediate outcome. Recent molecular biology techniques and genomic approaches may help us to better understand the pathogenesis of ACT, the risk of developing a tumour when TP53 R337H is present, and to predict its outcome. An ongoing pilot study consisting of close monitoring of healthy carriers of the <it>TP53 </it>R337H mutation - siblings and first-degree relatives of known affected cases - aims at the early detection of ACTs and an improvement of the cure rate.</p> |
| first_indexed | 2024-04-12T15:21:43Z |
| format | Article |
| id | doaj.art-66ec68f7f0894207a0c0296625cbe42f |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-04-12T15:21:43Z |
| publishDate | 2006-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-66ec68f7f0894207a0c0296625cbe42f2022-12-22T03:27:25ZengBMCHereditary Cancer in Clinical Practice1897-42872006-05-0142818910.1186/1897-4287-4-2-81Childhood Adrenocortical Tumours: a ReviewMarques-Pereira RosanaDeLacerda LuizLacerda Hadriano MMichalkiewicz EdsonSandrini FabianoSandrini Romolo<p>Abstract</p> <p>Childhood adrenocortical tumour (ACT) is not a common disease, but in southern Brazil the prevalence is 15 times higher than in other parts of the world. One hundred and thirty-seven patients have been identified and followed by our group over the past four decades. Affected children are predominantly girls, with a female-to-male ratio of 3.5:1 in patients below 4 years of age. Virilization alone (51.6%) or mixed with Cushing's syndrome (42.0%) was the predominant clinical picture observed in these patients. Tumours are unilateral, affecting both glands equally. <it>TP53 </it>R337H germline mutations underlie most childhood ACTs in southern Brazil. Epidemiological data from our casuistic studies revealed that this mutation has ~10% penetrance for ACT. Surgery is the definitive treatment, and a complete resection should always be attempted. Although adjuvant chemotherapy has shown some encouraging results, its influence on overall outcome is small. The survival rate is directly correlated to tumour size; patients with small, completely excised tumours have survival rates close to 90%, whereas in those patients with inoperable tumours and/or metastatic disease it is less than 10%. In the group of patients with large, excisable tumours, half of them have an intermediate outcome. Recent molecular biology techniques and genomic approaches may help us to better understand the pathogenesis of ACT, the risk of developing a tumour when TP53 R337H is present, and to predict its outcome. An ongoing pilot study consisting of close monitoring of healthy carriers of the <it>TP53 </it>R337H mutation - siblings and first-degree relatives of known affected cases - aims at the early detection of ACTs and an improvement of the cure rate.</p>http://www.hccpjournal.com/content/4/2/81adrenocortical tumoursTP53 mutationschildren |
| spellingShingle | Marques-Pereira Rosana DeLacerda Luiz Lacerda Hadriano M Michalkiewicz Edson Sandrini Fabiano Sandrini Romolo Childhood Adrenocortical Tumours: a Review Hereditary Cancer in Clinical Practice adrenocortical tumours TP53 mutations children |
| title | Childhood Adrenocortical Tumours: a Review |
| title_full | Childhood Adrenocortical Tumours: a Review |
| title_fullStr | Childhood Adrenocortical Tumours: a Review |
| title_full_unstemmed | Childhood Adrenocortical Tumours: a Review |
| title_short | Childhood Adrenocortical Tumours: a Review |
| title_sort | childhood adrenocortical tumours a review |
| topic | adrenocortical tumours TP53 mutations children |
| url | http://www.hccpjournal.com/content/4/2/81 |
| work_keys_str_mv | AT marquespereirarosana childhoodadrenocorticaltumoursareview AT delacerdaluiz childhoodadrenocorticaltumoursareview AT lacerdahadrianom childhoodadrenocorticaltumoursareview AT michalkiewiczedson childhoodadrenocorticaltumoursareview AT sandrinifabiano childhoodadrenocorticaltumoursareview AT sandriniromolo childhoodadrenocorticaltumoursareview |