De novo Acute Myeloid Leukemia Associated with t(11;17)(q23;q25) and &lt;i&gt;MLL&lt;/i&gt;-&lt;i&gt;SEPT9 &lt;/i&gt;Rearrangement in an Elderly Patient: A Case Study and Review of the Literature

Lee, Sang-Guk; Park, Tae Sung; Oh, Seung Hwan; Park, Kang Hyun; Yang, Young Joon; Marschalek, Rolf; Meyer, Claus; Cho, Eun Hae; Shin, So Young

doi:10.1159/000329389

Cited by 9 publications

(3 citation statements)

References 26 publications

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“…Furthermore, for chromosomal translocations with multiple partner genes such as MLL -or FGFR1 -related rearrangements, long distance inverse PCR (LDI-PCR) can be effectively applied because of its combined advantages of break-apart FISH and specific RT-PCR. It is noteworthy that such genomic analysis (LD-or LDI-PCR) can be applied successfully for the diagnosis of both hematologic malignancies and solid tumors [16][17][18][19][20][21][22][23] , as previously reported by our research group. We believe that further studies in various gene rearrangements of hematologic malignancies as well as solid tumors are necessary to validate the diagnostic usefulness of LD-or LDI-PCR.…”

Section: 2-mb Submicroscopic Deletionsupporting

confidence: 53%

Submicroscopic Deletion of FGFR1 Gene Is Recurrently Detected in Myeloid and Lymphoid Neoplasms Associated with ZMYM2-FGFR1 Rearrangements: A Case Study

et al. 2012

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Section: 2-mb Submicroscopic Deletionsupporting

confidence: 53%

Submicroscopic Deletion of FGFR1 Gene Is Recurrently Detected in Myeloid and Lymphoid Neoplasms Associated with ZMYM2-FGFR1 Rearrangements: A Case Study

et al. 2012

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“…In addition, we identified several new fusion partners for 11q23 in CML: 2q32, 6p11.2, 17q25, and 18q11.2. Of these, t(11;17)(q23;q25) potentially involves the SEPT9 gene on 17q25 and had been reported in AML and myelodysplastic syndrome with a poor prognosis [ 42 ], whereas t(2;11)(q32;q23), t(6;11)(p11.2;q23), and t(11;18)(q23;q11.2) translocations have never been previously described in the literature. It will be of interest to explore and characterize the potential genes involved in these reciprocal translocations and their roles in leukemia.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal rearrangement involving 11q23 locus in chronic myelogenous leukemia: a rare phenomenon frequently associated with disease progression and poor prognosis

et al. 2015

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BackgroundProgression of chronic myelogenous leukemia (CML) is frequently accompanied by cytogenetic evolution, commonly unbalanced chromosomal changes, such as an extra copy of Philadelphia chromosome (Ph), +8, and i(17)(q10). Balanced chromosomal translocations typically found in de novo acute myeloid leukemia occur occasionally in CML, such as inv(3)/t(3;3), t(8;21), t(15;17), and inv(16). Translocations involving the 11q23, a relatively common genetic abnormality in acute leukemia, have been seldom reported in CML. In this study, we explored the prevalence and prognostic role of 11q23 in CML.MethodsWe searched our pathology archives for CML cases diagnosed in our institution from 1998 to present. Cases with 11q23 rearrangements were retrieved. The corresponding clinicopathological data were reviewed.ResultsA total of 2,012 cases of CML with available karyotypes were identified. Ten (0.5%) CML cases had 11q23 rearrangement in Ph-positive cells, including 4 cases of t(9;11), 2 cases of t(11;19), and 1 case each of t(2;11), t(4;11), t(6;11), and t(4;9;11). Eight cases (80%) had other concurrent chromosomal abnormalities. There were 6 men and 4 women with a median age of 50 years (range, 21–70 years) at time of initial diagnosis of CML. 11q23 rearrangement occurred after a median period of 12.5 months (range, 0–172 months): 1 patient in chronic phase, 2 in accelerated phase, and 7 in blast phase. Eight of ten patients died after a median follow-up of 16.5 months (range, 8–186 months) following the initial diagnosis of CML, and a median of 6.7 months (range, 0.8–16.6 months) after the emergence of 11q23 rearrangement. The remaining two patients had complete remission at the last follow-up, 50.2 and 6.9 months, respectively. In addition, we also identified a case with 11q23/t(11;17) in Ph-negative cells in a patient with a history of CML. MLL involvement was tested by fluorescence in situ hybridization in 10 cases, and 7 cases (70%) were positive.ConclusionsIn summary, chromosomal rearrangements involving 11q23 are rare in CML, frequently occurring in blast phase, and are often associated with other cytogenetic abnormalities. These patients had a low response rate to tyrosine kinase inhibitors and a poor prognosis.

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“…As previously described, LDI-PCR is a modified LD-PCR method that utilizes genomic DNA [6-8]. Briefly, the DNA sample is treated and analyzed as previously described [6, 7].…”

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confidence: 99%

Diagnostic Usefulness of Genomic Breakpoint Analysis of Various Gene Rearrangements in Acute Leukemias: A Perspective of Long Distance– or Long Distance Inverse-PCR–based Approaches

et al. 2012

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De novo Acute Myeloid Leukemia Associated with t(11;17)(q23;q25) and <i>MLL</i>-<i>SEPT9 </i>Rearrangement in an Elderly Patient: A Case Study and Review of the Literature

Cited by 9 publications

References 26 publications

Submicroscopic Deletion of <i>FGFR1</i> Gene Is Recurrently Detected in Myeloid and Lymphoid Neoplasms Associated with <i>ZMYM2-FGFR1</i> Rearrangements: A Case Study

Submicroscopic Deletion of <i>FGFR1</i> Gene Is Recurrently Detected in Myeloid and Lymphoid Neoplasms Associated with <i>ZMYM2-FGFR1</i> Rearrangements: A Case Study

Chromosomal rearrangement involving 11q23 locus in chronic myelogenous leukemia: a rare phenomenon frequently associated with disease progression and poor prognosis

Diagnostic Usefulness of Genomic Breakpoint Analysis of Various Gene Rearrangements in Acute Leukemias: A Perspective of Long Distance– or Long Distance Inverse-PCR–based Approaches

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