del(17p) in myeloid malignancies

Note	recently, we and others reported in ANLL and MDS a strong correlation between 17p deletion (a clonal cytogenetic anomaly consisting of a deletion of the short arm of chromosome 17), and a particular form of morphological dysgranulopoiesis, we also found in such cases a strong correlation between 17p deletion and p53 mutation; these correlations suggest that ANLL and MDS with 17p deletion constitute a new morphological-cytogenetic-molecular entity, the " 17p syndrome "
Other names	17p syndrome in myeloid malignancies
	17p syndrome R- banding: various rearrangements of chromosomes 5 and/or 7, and 17 - Courtesy Jean-Luc Lai

Disease	acute non lymphocytic leuemia/myelodysplastic syndromes (ANLL/MDS), chronic myelogenous leukemia (CML) in blast crisis
Phenotype / cell stem origin	mainly refractory anemia with excess of blasts RAEB/ RAEB-t in MDS, often M2 or M6 in ANLL / multi-lineage involvement
Etiology	about 30% of ANLL and MDS with 17p deletion are therapy related; t-ANLL and t-MDS occur after a lymphoïd neoplasm or a solid tumor treated by chemotherapy with an alkylating agent or after essential thrombocytemia or polycythemia vera treated by hydroxyurea alone or associated with other drugs
Epidemiology	3 to 4% of ANLL and MDS mean age > 60 years sex ratio : about 1M/1F
Clinics	not specific (consequences of cytopenias infection, bleeding, anemia)
Cytology	most cases of ANLL and MDS with 17p deletion have a particular form of morphological dysgranulopoiesis, combining both nuclear and cytoplasmic abnormalities in at least 5% of neutrophils; affected cells have reduced size and are mostly mature; nucleus is bi- or non-lobulated and chromatin is well- or heavily-clumped; cytoplasm contains variable number of small clear vacuoles and sometimes a reduced number of granules; these morphological abnormalities involve neutrophilic, but also eosinophilic and basophilic lineages; such abnormalities can be observed both in the bone marrow and in the peripheral blood; however, in the latter instance, it may be difficult to demonstrate pseudo-Pelger Huët anomaly, due to frequent neutropenia; these nuclear changes mimick those found in the so-called constitutional Pelger-Huët hypolobulation of polymorphonuclear leukocytes dysgranulopoiesis features are frequently associated with variable degree of dyserythropoiesis and dysmegakaryocytopoiesis
Pathology	not reported
	17p syndrome - Courtesy Georges Flandrin.
Treatment	classical anthracycline-Ara C chemotherapy gives poor results; the only possibility of cure appears to be by allogeneic stem cell transplantation, but very few allografted cases have been reported
Evolution	worsening of cytopenias, progression to ANLL
Prognosis	very poor, median survival: 4 months

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