Is trisomy 22 in acute myeloid leukemia a primary abnormality or only a secondary change associated with inversion 16?

Grois, Nicole; Nowotny, H.; Tyl, Eva; Krieger, O.; Kier, P; Haas, Oskar A.

doi:10.1016/0165-4608(89)90135-0

Cited by 26 publications

(11 citation statements)

References 28 publications

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“…Of these, 11 were excluded from analysis for the following reasons: insufficient details available in two, 17,18 no anti-leukemic treatment administered in three (including current case 2), 19,20 prior radiation therapy only in three, 13,21,22 aberrant breakpoints in one 23 unacknowledged multiple publication in one, 19,24 and finally, one case included in an earlier review (patient number 5 from Quesnel et al 12 ) could not be verified from the primary reference cited. 25 Thus, 25 cases with treatment and follow-up data were available for analysis 6,[12][13][14]19,[26][27][28][29] (Table 1).…”

Section: Previously Reported Cases Of S-aml With Inv(16)mentioning

confidence: 99%

Secondary acute myeloid leukemia with inv(16): report of two cases following paclitaxel-containing chemotherapy and review of the role of intensified ara-C therapy

et al. 1999

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Acute myeloid leukemia developing secondary to prior cytotoxic chemotherapy (s-AML) encompasses a range of distinct entities. We report two cases of s-AML with inv(16)(p13q22) who had prior exposure to paclitaxel. Additionally, two previously reported cases of s-AML with inv(16) had prior paclitaxel exposure raising the possibility that the taxanes may predispose to this specific syndrome of s-AML. One of our patients received escalated-dose ara-C chemotherapy, achieving a complete remission (12+ months). We therefore examined the prognosis of previously reported cases of s-AML with inv(16) and analyzed the influence of escalated-dose ara-C (у400 mg/m 2 /day). A total of 25 evaluable cases were identified, with 96% attaining CR independent of ara-C dose. The estimated median remission duration was 40 months and the median survival has not been reached (actuarial 5-year survival 52 ± 18%). Although not achieving statistical significance, patients treated with escalated dose ara-C (n = 15) had longer remission duration and overall survival than those treated with standard dose ara-C (n = 10) (P = 0.063 and 0.20, respectively). In univariate analysis, younger age, male gender, and the presence of additional cytogenetic abnormalities were associated with a tendency towards adverse outcomes (P Ͻ 0.1). Age and gender were equally distributed between ara-C dose cohorts, but more patients treated with standard-dose ara-C had additional cytogenetic abnormalities (P = 0.048). Within the limitations of this retrospective study, this analysis suggests that, similar to de novo AML with inv(16), secondary cases may also potentially benefit from treatment with escalated-dose ara-C. This is consistent with the premise that the underlying molecular defect, rather than the presence of prior cytotoxic drug exposure, may be the most important determinant of disease behavior and chemotherapy responsiveness in AML.

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Section: Previously Reported Cases Of S-aml With Inv(16)mentioning

confidence: 99%

Secondary acute myeloid leukemia with inv(16): report of two cases following paclitaxel-containing chemotherapy and review of the role of intensified ara-C therapy

et al. 1999

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“…Trisomy 22 is a common additional chromosomal abnormalities in AML with inv(16)/t(16;16) [27]. In patients with AML and trisomy 22 as the sole karyotype abnormality, cytogenetically cryptic inv(16) (p13q22) is always present, based on small case series reports [28,29]. It has been proposed that cryptic inv (16) should be ruled out by either RT-PCR or FISH when trisomy 22 is present as an isolated karyotypic abnormality in AML [28,29,38].…”

Section: Discussionmentioning

confidence: 99%

“…Approximately one-third of AML with inv(16) cases have additional karyotypic abnormalities (for example, trisomy 22, trisomy 8, or partial deletion of 7q), occurring concurrently with inv (16) or arising during clonal evolution [27][28][29]. There is only one reported case of AML with inv (16), which occurred in a patient with long-standing history of CLL [25].…”

Section: Introductionmentioning

confidence: 99%

Concurrent acute myeloid leukemia with inv(16)(p13.1q22) and chronic lymphocytic leukemia: Molecular evidence of two separate diseases

Murata-Collins²,

Wang

et al. 2006

American J Hematol

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Acute myeloid leukemia (AML) occurring concurrently with or after untreated chronic lymphocytic leukemia (CLL) is rare. We report a case of a 59-year-old man who was evaluated for anemia, thrombocytopenia, and leukocytosis with circulating blasts. On the basis of the morphology and immunophenotyping results, a preliminary diagnosis of chronic myelomonocytic leukemia with concurrent CLL was considered. Subsequently, cytogenetic analysis of the leukemic blood specimen revealed inv(16)(p13.1q22) with secondary trisomy 22 in a sideline clone. Fluorescence in situ hybridization confirmed the CBFb rearrangement associated with inv(16) in myeloblasts and myelomonocytic cells, but not in CLL cells. Therefore, a final diagnosis of AML with inv(16) with concurrent CLL was made. After standard chemotherapy for AML, the patient achieved complete remission for both his AML and CLL. The unique aspects of this case include concomitant AML and CLL, which do not share clonality, complex cytogenetic abnormalities with trisomy 22 as a secondary abnormality associated with inv(16), and achievement of remission for both AML and CLL by AML chemotherapy regimen. This case also represents one of the rare instances where a diagnosis of AML can be established even when the blast percentage in the marrow and blood is less than 20%. Am. J. Hematol. 81:963-968, 2006. V V C 2006 Wiley-Liss, Inc.

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“…The aim of this study was to explore the value of trisomy 22 shown by R-banding CC in the diagnosis of AML with (16) [10]. In G-banding, an inv(16) generates an overall darker heterochromatin-positive p arm and a heterochromatin-negative q arm with a broad light middle part and a dark band on the terminal part.…”

Section: Discussionmentioning

confidence: 99%

“…Trisomy 22 is an uncommon karyotypic aberration in AML, often of the myelomonocytic subtype. Some studies suggest that this abnormality is often associated with inv(16)(p13q22) [8][9][10]. Furthermore, it has also been suggested that trisomy 22 was in fact only a secondary chromosomal change occurring in AML with inv (16) [11,12].…”

Section: Introductionmentioning

confidence: 99%

Trisomy 22 as the Sole Abnormality is an Important Marker for the Diagnosis of Acute Myeloid Leukemia with Inversion 16

Xu¹,

Zhou²,

Fan³

et al. 2008

Onkologie

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Background: The inversion of chromosome 16 (inv(16) (p13q22)) and the related t(16;16)(p13;q22) are chromosomal aberrations observed in approximately 10% of de novo acute myeloid leukemia (AML), mostly classified as M4Eo subtype, and associated with a relatively favorable outcome. However, it is a cryptic rearrangement and often difficult to recognize in conventional cytogenetics (CC). Trisomy 22 is an uncommon karyotypic aberration in AML and is often associated with inv(16)(p13q22). The aim of this study was to explore the value of trisomy 22 in the diagnosis of AML with inv(16). Patients and Meth-ods: Dual-color interphase fluorescence in situ hybridization (FISH) was performed in 19 AML cases with trisomy 22 abnormality shown by R-banding CC. The probe was a two-color break-apart probe for CBFβon the centromeric side and the telomeric side. Results: R-banding CC did not reveal inv(16) in any of the 19 AML with trisomy 22, but FISH analysis showed inv(16) in 11 cases and del(16)(q22) in 1 case. Among the 11 cases with inv(16), 9 showed trisomy 22 as the sole abnormality, 1 was complicated by trisomy 8, and 1 was del(16)(q22). Conclusion: This study further confirmed that trisomy 22 as the sole abnormality can be regarded as an important marker for inv(16) in AML.

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Is trisomy 22 in acute myeloid leukemia a primary abnormality or only a secondary change associated with inversion 16?

Cited by 26 publications

References 28 publications

Secondary acute myeloid leukemia with inv(16): report of two cases following paclitaxel-containing chemotherapy and review of the role of intensified ara-C therapy

Secondary acute myeloid leukemia with inv(16): report of two cases following paclitaxel-containing chemotherapy and review of the role of intensified ara-C therapy

Concurrent acute myeloid leukemia with inv(16)(p13.1q22) and chronic lymphocytic leukemia: Molecular evidence of two separate diseases

Trisomy 22 as the Sole Abnormality is an Important Marker for the Diagnosis of Acute Myeloid Leukemia with Inversion 16

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