Fanconi's anaemia presenting as acute myeloid leukaemia in adulthood

Abstract

We describe a 28-year-old male patient who presented with apparently de novo acute myeloid leukaemia (AML) who was subsequently found to have Fanconi's anaemia (FA). The gene for complementation group A (FAA) has recently been localized to chromosome 16q24.3 and utilizing genetic markers closely linked to this locus we were able to conclude that this patient was likely to belong to complementation group A. FA presenting as AML is an exceptionally rare event and all previously described cases have occurred in patients less than 21 years of age. We conclude that the diagnosis of FA should always be considered in younger patients presenting with AML. It is important that the correct diagnosis is made in these individuals because the administration of conventional chemotherapy may well have devastating consequences for them. Correlations between the specific mutations causing FA and clinical phenotypes are likely to become apparent as more genetic analyses are performed in this group of patients.

Fanconi anaemia and leukaemia – clinical and molecular aspects

“…A recent retrospective study of 145 FA cases showed that certain congenital abnormalities were potential risk indicators for the development of bone marrow failure; FA patients with abnormal radii had a 5·5 times increased risk of developing bone marrow failure compared with those cases with normal radii and the risk also increased with the number of heart, kidney, head, hearing and developmental abnormalities present (Rosenberg et al , 2004). In those children without congenital abnormalities the development of haematological abnormalities can be the first presenting feature of FA and can occasionally be the presenting feature in adulthood (Liu et al , 1991; Cavenagh et al , 1996).…”

Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia

“…67 Furthermore, no case presenting initially as MDS or AML without bone marrow failure (BMF) has been reported in a patient older than 28 years. 68 Xie et al 69 suggested, based on observations from coimmunoprecipitation studies, that AML cells from non-FA patients may exhibit abnormal FA protein complex formation, but the functional significance of the observations was unclear. Specifically, MMC sensitivity was not reported in all cells tested, FA genes were not sequenced, complementation studies were not performed, FANCD2-S/L status was not examined (the identification of FANCD2 was reported after the publication of the report by Xie et al 69 ), and nonleukemic cells from the patients with AML were not analyzed.…”

La Dismorfología como Herramienta para un Diagnóstico Temprano de la Anemia de Fanconi; Dysmorphology as a Tool for Earlier Diagnosis of Fanconi Anemia

“…5,32,34 Posteriormente, un paciente adulto joven con anemia de Fanconi, aún sin falla medular evidente, puede diagnosticarse debido a infertilidad o cáncer, específicamente carcinoma de células escamosas de cabeza y cuello, síndrome mielodisplásico o leucemia mieloide aguda. 19,[35][36][37][38][39] La importancia del diagnóstico temprano en el paciente con anemia de Fanconi y su familia son: a) Finalización de la odisea diagnóstica. b) Búsqueda, prevención y manejo de comorbilidades asociadas (alteraciones del desarrollo, hematológicas y oncológicas).…”