Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and acute myeloid leukemia (AML).

Chronic myeloproliferative disorder in 58 cases and AML in 52 patients.
Chronic myeloproliferative neoplasms: 5 polycythemia vera (PV) (Carbonell et al., 1983; Mamaeva et al., 1983; Rege-Cambrin et al., 1987; Jarosova et al., 1988), 3 essential thrombocythemia (ET) (Knuutila et al., 1983; Richard et al., 1987; Lofvenberg et al., 1990), 10 myelofibrosis (MF) (Schmid and Kohler., 1984; Lawler and Swansbury.,1985; Akahoshi et al., 1987; Fonatsch and Gradl., 1988; Lofvenberg et al., 1990; Andrieux et al., 2003), among them 4 with post-PV myelofibrosis (Andrieux et al 2003) and 2 after therapy for a previous malignancy (Lawler and Swansbury., 1985; Akahoshi et al., 1987). There were 2 chronic myelomonocytic leukemia (CMMoL) (Fonatsch et al., 1991; Trakhtenbrot et al., 2010) cases and 2 patients with unspecified chronic myeloproliferative disorders (Haubenstock et al., 1985; Kerman et al., 1986).
Myelodysplastic syndrome: 25 patients (Anderson and Bagby., 1982; Papenhausen et al., 1984; Yunis et al., 1986; Palmer et al., 1987; Fonatsch et al., 1991; Kanamaru and Tamura., 1993; Ohyashiki et al., 1994; Tien et al., 1994; Satake et al., 1997; Alter et al., 2000; de Souza Fernandez et al., 2000; Kearns et al., 2004; Alfaro et al., 2008; Bacher et al., 2009; Vundinti et al., 2010; Kolquist et al., 2011; Quentin et al., 2011), 8 of them with Fanconi anemia (FA) (Alter et al 2000; Vundinti et al 2010; Quentin et al., 2011).
Chronic myeloid leukemia (CML) was diagnosed in 11 patients (Kohno and Sandberg., 1980; Smadja et al., 1984; Hild and Fonatsch., 1990; Gozzetti et al., 2003; Herens et al., 2003; Lee et al., 2003; Schoch et al., 2003; Abruzzese et al., 2007; Palandri et al., 2009; Sun et al., 2011; Fabarius et al., 2011). In 8 patients dup(1q) was found in association with t(9;22)(q34;q11) (Kohno and Sandberg 1980; Smadja et al., 1984; Hild and Fonatsch., 1990; Lee et al., 2003; Schoch et al., 2003; Palandri et al., 2009; Sun et al., 2011; Fabarius et al., 2011) and it was detected in a Ph-negative clone while on imatinib therapy in 3 patients (Gozzetti et al., 2003; Herens et al., 2003; Abruzzese et al., 2007).
Acute myeloid leukemia: There were 53 patients diagnosed with various forms of AML: 1 AML-M0 (Angelova et al., 2015), 4 AML-M1 (Pui et al., 1990; Tanaka et al., 1997; Taylor et al., 2000; Jekarl et al., 2010), 9 AML-M2 (CG et al., 1988; Tien et al., 1988; Kobayashi et al., 1990; Stuppia et al., 1990; Kudoh et al., 1995; Tamura et al., 1998; Lee et al., 2004; Kim et al., 2009; Beach et al., 2012), 3 AML-M3 (Berger et al., 1988; Cuneo et al 1992; Batzios et al., 2009), 7 AML-M4 (Haas et al., 1985; Misawa et al., 1988; Raynaud et al., 1994; Hda et al., 1996; Forestier et al., 2003; Schmidt et al., 2004; Bao et al., 2006), 5 AML-M5 (Orazi et al., 1988; Soekarman et al., 1992; Harrison et al., 1998; Panagopoulos et al., 2000; Gmidene et al., 2012), 2 AML-M6 (Cuneo et al., 1990; Creutzig et al., 1996), 5 AML-M7 (Shikano et al., 1995; Creutzig et al., 1996; Alvarez et al., 2001; Strehl et al., 2001; Lundin et al., 2012) and 16 AML unspecified cases (Nacheva et al., 1982; Ghaddar et al.,1994; Nacheva et al., 1995; Kolstad et al., 1996; Pallisgaard et al., 1998; Raimondi et al., 1999; Alter et al., 2000; Blann et al., 2000; de Souza Fernandez et al., 2000; Clavio et al., 2001; Seiter et al., 2001; Kern et al., 2002; Oliveira et al., 2002; Quentin et al., 2011). Patients characteristics are reported in Table 1.

At least 110 reported cases in myeloid malignancies (63 males and 47 females, aged 0 to 84 years; median 45 years); male prevalence in chronic myeloid neoplasms (35M/23F, aged 1 to 84 years; median 51 years); balanced sex ratio in AML (28M/24F aged 0 to 72 years; median 33 years). There were 20 pediatric cases (9M/11F;

The prognosis is likely variable in myeloid malignancies as dup(1q) may be present at all stages in the bone marrow, including hypoplastic marrow without morphological evidence of transformation. The appearance of dup(1q) in association with leukaemic or myelofibrotic transformation and/or poor-risk genetic features may be predictive of inferior prognosis (Beach et al., 2012).

Presents as one normal chromosome 1 and a dup(1)(q11-q44) chromosome. The breakpoints in 1q varied from 1q11 to 1q44, with a clustering to 1q21q32 (19 out of 110 cases) and 1q21q42, being duplicated in 13 out of 110 patients.

Sole abnormality in 37 patients, mostly in chronic myeloproliferative disorders (3 PV, 3 ET, 6 MF, 1 CMMoL, 14 MDS and 3 CML), and less frequently in AML (7 cases). Associated in combination with an extra chromosome 8 in 11 (Papenhausen et al., 1984;Ohyashiki et al., 1994; Alfaro et al., 2008; Schoch et al., 2003; CG., 1988; Tien et al.,1988; Cuneo et al., 1992; Ghaddar et al., 1994; Creutzig et al., 1996; Tamura et al., 1998; Bao et al., 2006). Loss of chromosome 7 was observed in 3 AML patients (Haas et al., 1985; Hda et al., 1996; Ghaddar et al., 1994) and del(7q) in 4 cases, 3 of them with Fanconi anemia (Alter et al., 2000; Kearns et al., 2004; Quentin et al., 2011). del(5q) was found in 2 AML (Soekarman et al., 1992; Tanaka et al., 1997) and del(20q) was present in 3 (Trakhtenbrot et al., 2010; Kobayashi et al., 1990; Nacheva et al., 1995) cases.
The dup(1q) was apparently secondary anomaly- occurring in a subclone or together with the well-known primary abnormalities such as t(8;21)(q22;q22) in 2 (Tien et al.,1988; Lee et al., 2004), t(9;22)(q34;q11) in 8 CML (Kohno and Sandberg., 1980; Smadja et al., 1984; Hild and Fonatsch 1990; Lee et al., 2003; 54. Schoch et al., 2003; Palandri et al., 2009; Fabarius et al., 2011; Sun et al., 2011) and 1 AML (de Souza et al., 2000). t(15;17)(q24;q21) was found in 2 cases (Berger et al., 1988; Cuneo et al., 1992), 21q22 abnormalities in 5 (Raimondi et al., 1999; Kim et al., 2009; Jekarl et al., 2010) and 11q23 rearrangements in 4 AML patients (Nacheva et al., 1982; Harrison et al., 1998; Taylor et al., 2000; Clavio et al., 2001 ).
Cytogenetic clonal variation with karyotypically unrelated clones was found in 5 MPN (Rege-Cambrin et al., 1987; Andrieux et al., 2003; Alfaro et al., 2008; Hild and Fonatsch 1990; Sun et al., 2011) and 2 AML patients (Alter et al., 2000; Strehl et al., 2001).

Duplication of all or part of the long arm of chromosome 1 is one of the most frequent chromosomal abnormalities in human neoplasia. In hematologic malignancies of the myeloid lineages, it has been reported in patients with various myeloproliferative conditions, including chronic myeloproliferative neoplasms and acute myelogenous leukemia. Although cytogenetically heterogeneous, duplication of the 1q21-1q32 segment is most commonly observed, indicating that certain chromosome 1 regions might harbor genes that are casually implicated in oncogenesis. The unbalanced nature of this rearrangement indicates, that the sequential duplication of 1q leading to chromosomal imbalances is likely implicated in neoplastic processes by a gene dosage effect. Whether appearance of 1q duplication marks only preleukemic cells participating indirectly, or it may be sufficient as the sole anomaly to promote leukemogenesis is unclear, as well as the role of cytotoxic therapy in some patients.