Open AccessIdentification of i(X)(p10) as the sole molecular abnormality in atypical chronic myeloid leukemia evolved into acute myeloid leukemia
Author(s) -
Carmelo Gurnari,
Paola Paterini,
Emiliano Fabiani,
Anna Maria Nardone,
Diana Postorivo,
Giulia Falconi,
Luca Franceschini,
Manuela Rizzo,
Vito Mario Rapisarda,
Eleonora De Bellis,
Francesco LoCoco,
Maria Teresa Voso
Publication year - 2017
Publication title -
molecular and clinical oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.442
H-Index - 7
eISSN - 2049-9469
pISSN - 2049-9450
DOI - 10.3892/mco.2017.1543
Subject(s) - leukocytosis , isochromosome , myeloid leukemia , myeloid , basophilia , monocytosis , biology , cancer research , leukemia , immunology , karyotype , medicine , bone marrow , genetics , chromosome , gene
The World Health Organization classifies atypical chronic myeloid leukemia (aCML) as a myeloproliferative/myelodisplastic hematological disorder. The primary manifestations are leukocytosis with disgranulopoiesis, absence of basophilia and/or monocytosis, splenomegaly and absence of Philadelphia chromosome or BCR/ABL fusion. Overall 50-65% of patients demonstrate karyotypic abnormalities, although no specific cytogenetic alterations have been associated with this disease. X chromosome alterations have been rarely reported in myeloid malignancies. Although Isodicentric X, idic(X)(q13) is well known in females with myelodysplastic syndromes (MDS), little data are available on X isochromosome and its pathogenetic potential in these disorders. i(X)(p10) is observed in a variety of hematologic malignancies, both myeloid and lymphoid, as a unique abnormality, as well as part of a more complex karyotype, in females and less frequently in male patients. The present report describes the first patient with aCML, with documented isolated i(X)(p10), who developed a secondary acute myeloid leukemia (sAML).