Squamous cell carcinoma of the tongue after bone marrow transplantation in a patient with Fanconi anemia

Abstract

Fanconi anemia (FA) is an autosomal recessive disorder that might cause a variety of congenital and developmental abnormalities. The most important features of FA are progressive bone marrow failure and development of malignancies, particularly acute myeloid leukemia and solid tumors. This paper reports the case of a 12-year-old patient with FA assisted at the Stomatology and Bucomaxillofacial Cancer Prevention Service of São Lucas Hospital, Brazil, who had been submitted to bone marrow transplantation (BMT) at the age of 5 and exhibited oral lesions characteristic of chronic graft versus host disease (GVHD). The patient was treated and followed-up for the oral lesions. Eleven years after the BMT, he developed squamous cell carcinoma of the tongue with an aggressive behavior, which was considered an untreatable condition. The patient died few months later from asphyxia at the age of 16. The reasons for development of these malignant conditions are unknown. However, chromosomal instability typically observed in FA cases, BMT factors and GVHD have been considered. Systematic follow-up of these patients allows early and less invasive therapeutic approaches.

Fanconi anemia manifesting as a squamous cell carcinoma of the mandible: a case report

“…The main cause of morbidity and mortality are aplastic anemia, myelodysplasia and Although acute myeloid leukemia is the most commonly found malignancy, solid tumors represent about 40% of neoplasms observed which develop at older ages in patients surviving the hematologic abnormalities [5].…”

“…Furthermore, in contrast to FA-nonaffected individuals, predisposing risk factors for head and neck cancer, like tobacco and alcohol abuse, are rare in these patients. Jansisyanont reported that the commonest localizations of SCC in FA patients in descending order are: tounge, anogenital region, pharynx, larynx, oral [5] mucosa, mandible and skin [16].…”

“…FA is characterized by a high degree of genomic instability and predisposition to cancer development [3]. The most important features of FA are progressive bone marrow failure and development of malignancies, particularly acute myeloid leukemia and solid tumors [4,5]. Such patients are prone to the development of hematological malignancies and squamous cell carcinoma, especially of the head and neck [2,6,7].…”

Fanconi Anemia: main oral manifestations

“…Furthermore, the lesions and conditions with potential to become malignant, such as leukoplasias, erythroplasias, lichen planus, and squamous cell carcinoma itself must be considered important alterations in the tongue in individuals with FA, particularly post-BMTO, because this is the site of preference for these alterations, with a prevalence of 69% 19 . The alveolar ridge, retromolar trigone region, floor of the mouth, oral mucosa and gingivae are the areas of the major establishment of squamous cell carcinoma [20][21][22][23][24][25] . Squamous cell carcinoma occurs with greater frequency in the region of the head and neck, particularly after bone marrow transplantation [17][18] , with the tongue being the site of preference.…”

“…In general, the age for the development of neoplasias in patients with FA is significantly lower than the age at which these same alterations manifest themselves in the population in general 14. In the head and neck region, the mean age for the appearance of tumors in the general population is around 45 years, while in individuals with FA, the age is 32 years 19 . Reports of SCC in children [18][19][20][21][22][23][24] , adolescents 16,[26][27] , and young adult [17][18][19][20][21][22][23][24][25][26][27][28] , individuals with FA suggest genetic alterations in these individuals as the etiological factor of SCC of the tongue.…”