Polysomy 8 defines a clinico-cytogenetic entity representing a subset of myeloid hematologic malignancies associated with a poor prognosis: report on a cohort of 12 patients and review of 105 published cases

Myeloid Sarcoma and Acute Myelomonocytic Leukemia in an Adolescent with Tetrasomy 8: Staging with 18F-FDG PET/CT

“…Most patients with myeloid sarcoma present with concurrent AML [12,13], as did our patient. Tetrasomy 8 has been described in AML with extramedullary manifestations in only a handful of cases in the literature, with myelosarcomatosis of the skin being the most common extramedullary manifestation [1,2,[8][9][10]. Abnormalities of 11q23 leading to MLL gene (a gene that codes for histone-lysine N-methyltransferase HRX) rearrangements, as detected in our patient, have been reported in a number of patients with myeloid sarcoma [12].…”

“…Interestingly, many cases with tetrasomy 8 and extramedullary disease also had abnormalities of chromosome 11 [2, 9, 10, and our case]. Although the presence of other chromosomal aberrations, including 11q23 rearrangements, does not appear to modify median survival in cases with polysomy 8, status of the MLL gene locus should be documented [8]. 18 F-FDG PET/CT imaging is not routinely used in the evaluation of leukemias, however scattered reports have described its successful use in the evaluation of a wide variety of leukemias, including acute lymphoblastic leukemia [14], AML [15,16], chronic myeloid leukemia [17], chronic lymphocytic leukemia [18], myeloid sarcoma [19], and histiocytic sarcoma [20].…”

“…It is considered a poor prognostic factor and is associated with very aggressive disease [1][2][3][4][5][6][7]. In many cases, it is associated with other chromosomal aberrations, including 11q23 rearrangements [8,9].…”

Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

“…Only 17 reported AML cases with isolated tetrasomy 8 have been documented, with all AML subtypes in French American British (FAB) classification being reported at least once [1]. Recently, it has been considered as a poor prognostic factor and showed short survival [3,4].…”

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Tetrasomy 8 is a rare chromosomal abnormality observed in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) [1,2]. Only 17 reported AML cases with isolated tetrasomy 8 have been documented, with all AML subtypes in French American British (FAB) classification being reported at least once [1].

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