Molecular characterization of complex chromosomal changes in de novo acute myeloid leukemia: a case report

Nicoleta P. Berbec, Sorina M.F. Papuc, Andreea C.D.F. Tutulan-Cunita, Silvana M. Angelescu, Anca I. Lupu, Aurora A. Arghir
2013 Romanian Journal of Laboratory Medicine  
De novo acute myeloid leukemias (AML) represent a heterogeneous group of clonal hematopoietic disorders in which chromosomal abnormalities are detected in a majority of patients. At present, cytogenetic changes are recognized as important diagnostic markers and prognosis determinants. Complex karyotype changes are associated with resistance to treatment and unfavorable evolution. We report on an AML case with complex karyotype changes characterized by molecular genetic techniques (fluorescence
more » ... ques (fluorescence in situ hybridization -FISH and array-based comparative genomic hybridization -array-CGH) and an extremely poor outcome. A 72 year-old female patient was admitted for genetic investigations with a clinical diagnosis of AML. Classical and molecular cytogenetic tests as well as array-CGH were performed. Complex chromosomal abnormalities were identified at diagnosis, consisting of genomic imbalances involving chromosomes 6, 7, 9, and 17. AML with complex karyotype changes is a heterogeneous disease, as a variety of genomic abnormalities are detected, involving virtually all chromosomes. The pathogenesis of AML with complex karyotype is poorly understood. The complexity of karyotypic changes in our case highlights the importance of using complementary genetic investigation in order to obtain a comprehensive view of AML genome. Rezumat Leucemiile mieloide acute de novo (LAM) reprezint un grup heterogen de afec iuni hematopoietice clonale, majoritatea pacien ilor prezentând anomalii cromozomiale. Modific rile citogenetice sunt considerate în momentul actual factori importan i de diagnostic i prognostic. Modific rile complexe ale cariotipului sunt asociate cu rezisten a la tratament i evolu ie nefavorabil . Raport m cazul unei paciente cu AML i modific ri complexe de cariotip identificate prin tehnici citogenetice i moleculare (hibridizare in situ fluorescent -FISH i hibridizare comparativ genomic bazat pe microarray -array-CGH) la care evolu ia a fost extrem de nefavorabil . Pacientei, în vârst de 72 de ani, i-au fost recomandate investiga ii citogenetice în contextul unui diagnostic clinic i hematologic de LAM. Au fost efectuate teste citogenetice i moleculare, incluzând array-CGH. Au fost identificate modific ri cromozomiale complexe reprezentate de dezechilibre genomice implicând cromozomii 6, 7, 9 i 17. Pacien ii cu LAM cu modific ri complexe de cariotip reprezint un grup heterogen, la care sunt detectate numeroase anomalii genomice ce pot afecta practic orice cromozom. Patogeneza LAM cu cariotip complex este incomplet în eleas . Complexitatea modific rilor genetice la pacienta noastr subliniaz importan a utiliz rii de investiga ii genetice complementare pentru a ob ine o imagine cât mai comprehensiv a anomaliilor genomice la pacien ii cu LAM. Cuvinte cheie: leucemie mieloid acut , hibridizare comparativ genomic bazat pe microarray, modific ri cromozomiale complexe.
doi:10.2478/rrlm-2013-0018 fatcat:aus7gotmnfceffrylzc5qikplq