Acute promyelocytic leukemia with t(15;17) and t(2;17;15)

Cytogenetic examination in a case of acute promyelocytic leukemia (FAB-M3) demonstrated a stem line with t(15;17) and a side line with t(2;17;15). This observation indicates either clonal evolution from the standard translocation or a de novo complicated translocation. Previous cases with three-way translocations in acute promyelocytic leukemia have been reviewed. Three-way translocations seem to occur with similar frequency in M2 and M3 types of acute myeloid leukemia and in chronic myelocytic leukemia.     

t(15;17) in a promyelocytic form of chronic myeloid leukemia blastic crisis

Two simultaneous translocations, t(15;17) and t(9;22), have been observed in a chronic myelogenous leukemia patient with acute promyelocytic blastic crisis. After remission obtention only karyotypes with t(9;22) were present. The occurrence of the two translocations in the same cell argues in favor of the specificity of t(15;17) versus acute promyelocytic differentiation.     

Uneven frequencies of secondary chromosomal abnormalities in acute myeloid leukemias with t(8;21), t(15;17), and inv(16)

The types and incidences of secondary chromosomal abnormalities were analyzed in three subtypes of leukemia with recurrent abnormalities, translocations t(8;21), t(15;17), and inversion inv(16). The main types of clonal secondary abnormalities were similar to those described in the literature, loss of sex chromosome associated with t(8;21), trisomy 8 with t(15;17), and trisomies 8 or 22 with inv(16). On the whole, the incidence of clonal abnormalities was significantly higher in t(8;21) leukemia than in the two other subtypes. This difference was not related to a chromosomal instability peculiar to this leukemia subtype, because the incidence of nonclonal abnormalities was the same in the three types of leukemia studied. The significance of secondary clonal abnormalities remains speculative. A careful comparative analysis of structural rearrangements of the chromosomes usually involved in secondary abnormalities must be carried out as a first step to identify the key genes altered.     

Variant translocation t(15q;17q) accompanying a promyelocytic accelerated phase of Ph-positive chronic myeloid leukemia

One case of Philadelphia-positive chronic myeloid leukemia showed a high promyelocytic component associated with a variant t(15q-,17q+) translocation. A key role for chromosome #17 in the promyelocytic proliferation and/or differentiation is emphasized.     

A new nonrandom unbalanced t(17;20) in myeloid malignancies

Deletions of chromosomes 17 and 20 are well-described abnormalities in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) but translocations involving these two chromosomes are uncommon. We present five male patients, one with MDS and four with AML, in whom a new, nonrandom unbalanced dicentric t(17;20), resulting in deletions of 17p and 20q, was identified. Conventional cytogenetics showed additional karyotypic abnormalities in most of the patients, including deletions of 5q, deletions or monosomy of chromosome 7, and deletions of 18q. Fluorescence in situ hybridization showed a deletion of the tumor suppressor gene TP53 on 17p. Of the four cases with follow-up data available, only two had received combination chemotherapy. Overall survival in these two cases was 6 and 7 weeks, respectively. Two other patients who had no active therapy administered died 6 weeks and 9 months after diagnosis, respectively. These five cases highlight a rare but recurrent abnormality in MDS and AML, potentially involving genes on 17p and 20q of importance in myeloid leukemogenesis.     

Promyelocytic crisis of chronic myelogenous leukemia without t(15;17)

A case of promyelocytic crisis of chronic myelogenous leukemia is reported. The amount of promyelocytoid blasts in peripheral blood and bone marrow were 70% and 58%, respectively, at the onset of the blastic phase. Cytogenetic analyses during the blastic phase did not reveal t(15;17); however, t(3;21) in addition to the t(9;22) in the karyotype of bone marrow or peripheral blood cells was observed.     

Atypical promyelocytic leukemia (M3) with immature primary granules and t(15;17)

An unusual case of acute myeloid leukemia with a standard t(15;17) is described. While light microscopy morphology was suggestive of acute myeloid leukemia M5a and light microscopy cytochemistry showed 80% of blasts to be strongly positive with Sudan Black B--more consistent with a diagnosis of M4--ultrastructural analysis demonstrated that the predominant cells were promyelocytes with immature primary granules hardly visible with the Romanovsky stains by light microscopy. Because typical cytologic and clinical features of M3 or M3 variant were lacking this atypical case would not have been recognized but for the presence of t(15;17) and the demonstration of promyelocytic features by electron microscopy.     

t(5;12)(q13;p13) in acute myeloid leukemia with preceding granulocytic sarcoma

A 56-year-old woman was brought to the emergency room with gum swelling and pain. Biopsy of the gingiva revealed sheet-like proliferation of myeloperoxidase and CD45-positive large cells, and she was diagnosed with granulocytic sarcoma. Two years later, bone marrow involvement of granulocytic sarcoma was suspected. Her chromosome study repeatedly revealed a 46,XX,t(5;12)(q13;p13) karyotype. Case reports of t(5;12)(q13;p13) are extremely rare in the literature. To our knowledge, this is the first report of t(5;12)(q13;p13) in a patient with acute myelogenous leukemia with preceding granulocytic sarcoma.     

Association of t(15;17) and t(8;21) in the initial phase of an acute promyelocytic leukemia.

Two clones were observed at the initial phase of an acute myelogenous leukemia (AML): 46,XX,t(15;17) and 46,XX,t(8;21),t(15;17). Clinical, immunologic, and morphologic findings were in favor of expression of both chromosomal anomalies. Relapse occurred after 12 months of complete remission with typical acute promyelocytic leukemia (APL) syndrome when t(15;17) alone was then most predominant.     

Second relapse of acute promyelocytic leukemia (ANLL-M3) with t(15;17) and t(1;3)(p36;q21).

We describe herein a patient with acute promyelocytic leukemia (APL)-(ANLL-M3) whose bone marrow cells in the second relapse showed t(1;3)(p36;q21) together with t(15;17) (q22;q11-q12). Although a total of 21 patients with t(1;3) have been reported so far, among which three cases with de novo acute nonlymphocytic leukemia were included, our patient is the first case with APL. The hematologic findings in our case confirmed the previous observations that this anomaly is associated with relatively high platelet count and the multi-myeloid lineage involvement of leukemic cells. Our patient responded well to chemotherapy and achieved first and second remission with 42 months of total survival, contrary to our expectation that patients with this anomaly have a poor prognosis.     

Endometrial stromal sarcoma t(7;17)(p15-21;q12-21) is a nonrandom chromosome change.

Short-term cultures of four abdominal smooth muscle tumors, three leiomyosarcomas and one leiomyoma, were analyzed cytogenetically. A low-grade malignant, epithelioid leiomyosarcoma had a normal karyotype. The other two leiomyosarcomas had abnormal karyotypes; one was near-diploid, and the other was near-triploid. Structural rearrangements of the short arm of chromosome 16 and monosomies of chromosomes 14, 15, and 22 were observed in both tumors. When our cases and previously published abdominal leiomyosarcomas are viewed in conjunction, loss of chromosomes 14, 15, and 22 are the most frequent abnormalities. The leiomyoma, the second cytogenetically abnormal nonuterine leiomyoma reported to date, had a hyperdiploid karyotype with a chromosome number of 56 and structural rearrangements of chromosomes 9, 14, and 19. The only aberrations similar to those observed in the previously reported esophageal leiomyoma were trisomies of chromosomes 7 and 8.