Post-hematopoietic stem cell transplant squamous cell carcinoma in patients with Fanconi anemia: a dreadful enemy

Tongue cancer following hematopoietic cell transplantation for Fanconi anemia

“…As shown by Murillo et al, the onset of close cancer screening programs can lead to diagnose of SCC in stage I. Moreover, the follow-up has to be maintained lifelong because the cumulative incidence of SCC is up to 14% and 71% at 15 and 30 years, respectively [ 29 ].…”

“…However, the best strategy is to play in advance as in any cancer. The importance of frequent and early-onset screening is the key in the possibility of making diagnoses at an early stage [ 29 ]. So, the surgical resection of the tumor could be sufficient and effective as a treatment, possibly followed by reconstruction with local flaps.…”

Importance of Population-Based Cancer Risk Information in the Care of Patients With Rare Genetic Disorders

“…Two recent reports of survivors of HSCT for FA demonstrated that 40%-70% (depending on the length of follow-up) of individuals developed squamous cell carcinoma of the head and neck region. 5,6 The situation with AT and adult-onset cancers is more complex as many patients with AT do not survive far into adulthood, given the combined risk of malignancy, immunodeficiency, and severe neurologic disability, resulting in tragic losses because of pulmonary failure during adolescence and young adulthood. 7,8 Dramatically different approaches for identifying every individual with a genetic condition in a geographic region have more recently involved genome-scale sequencing such as the study of individuals with DICER1 pathogenic variants in the Geisinger Health population 9 or conversely using highly specific and sensitive clinical features, for example, the astounding study where investigators systematically performed physical examinations on 152,819 six-year-old children in six German states using the neurofibromatosis type 1 diagnostic criteria to identify all individuals with neurofibromatosis type 1.…”

“…Two recent reports of survivors of HSCT for FA demonstrated that 40%-70% (depending on the length of follow-up) of individuals developed squamous cell carcinoma of the head and neck region. 5 , 6 The situation with AT and adult-onset cancers is more complex as many patients with AT do not survive far into adulthood, given the combined risk of malignancy, immunodeficiency, and severe neurologic disability, resulting in tragic losses because of pulmonary failure during adolescence and young adulthood. 7 , 8 …”