Results from Vall d´Hebron´s High Risk and Cancer Prevention Unit (UARPC) recently presented at the European Society of Medical Oncology (ESMO) Congress 2012 (Vienna, 28 September – 02 October) show that the high percentage of premalignant lesions detected in different organs in these adolescents and young people not only justifies these programmes but makes them indispensable.
This multidisciplinary initiative co-ordinated by the High Risk and Cancer Prevention Unit (UARPC) of the Vall d’Hebron Hospital in Barcelona, under the leadership of Judith Balmaña, who is also Head of VHIO´s High Risk and Cancer Prevention group, aims at early cancer detection in adolescents and young adults with Fanconi anaemia, a haematological disease that is considered premalignant and often associated with different tumours. The results of this follow-up programme clearly show the importance of alerting the scientific community about the necessary surveillance of these patients given that a high percentage of premalignant lesions have been detected in different organs as well as head and neck cancer in some patients.
Fanconi Anaemia (FA) is a rare, serious and hereditary disease, causing destruction of different lines of blood cells: leucocytes, platelets and erythrocytes. For that reason the problems become apparent with anaemia, and infectious or haemorrhagic episodes in children that take a great deal of time to solve. Treatment is, essentially, a bone marrow transplant.
After overcoming the bone marrow failure that typifies the disease, usually with a transplant, many of these FA children reach adulthood. At this point these patients are at high risk of developing secondary tumours due to the high predisposition associated with FA. In 2009 the High Risk and Cancer Prevention Unit (UARPC) at Vall d’Hebron consequently initiated an early detection programme for cancer in adolescent and young adult patients with FA. The aim of this programme is to offer medical education surrounding the risk of cancer, to promote healthy habits in patients with this disease, and to co-ordinate a multidisciplinary surveillance programme for the different tumours associated with FA. Adolescent FA patients are referred to the UARPC by paediatric haematologists for assessment. During the first consultation an overall evaluation is made for each patient involving confirmation of diagnosis, DNA profiling as well as a complete medical and family clinical history. The Cancer Surveillance Programme then co-ordinates the subsequent consultations with the different medical specialities every 6-12 months including haematological tests, examination of the pharynx and larynx by an ENT specialist, examination of the oral cavity by a maxillofacial specialist, and a gynaecological examination for women. Female patients are also given a vaccination against the human papilloma virus (HPV). If anything clinically suspicious is found in the cancer detection tests a biopsy is performed. Out of the 15 patients with FA in the follow-up programme, 13% have been diagnosed with a cancer of the oral cavity. Balmaña explains that this finding clearly shows the paramount need to investigate new means of prevention and molecular biomarkers in order to reduce the appearance of these neoplasias in patients with FA. The fact that there is a high risk of developing head and neck tumours obliges the medical community to design specific strategies in these patients, stressing the need for specialized monitoring and evaluation of the suitability for vaccination against HPV, a matter currently under study.
Special Symposium on genetic information and its impact on clinical practice at the ESMO Congress 2012
Approximately 10% of the most common cancers (breast, colon, prostate and ovary) are associated with a gene mutation that confers a high risk of developing this kind of tumour according to Balmaña, who also chaired the Special Symposium on genetic information and its impact on clinical practice at the recent ESMO Congress 2012. “A high number of familial cancers still cannot be explained after conventional genetic tests, but there is hope of identifying more genes connected with these tumours in the near future through the use of new sequencing techniques,” says Dr Balmaña. It is important to point out that the proportion of hereditary cancers may be greater among the less common tumours; for example, it is estimated that approximately 20% of pheochromocytomas and 25% of medullary thyroid cancers are connected with a germline mutation. “These patients must be identified so that they can be provided with suitable information, receive personalised management and treatment for the risk of secondary tumours and take the right steps to try and prevent the cancer”.