Masked t(15;17) APL with the insertion of PML–RARα fusion gene in 4q21

Haraguchi, Kouichi; Ohno, Nobuhito; Tokunaga, Masahito; Itoyama, Takahiro; Gotoh, Minako; Tubouchi, Hirohito

doi:10.1016/j.leukres.2009.04.033

Cited by 5 publications

(4 citation statements)

References 13 publications

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“…1 We observed 4q21 abnormalities ( AF4 gene) in our patient, but could not confirm 11q23 abnormalities. Although a case of APL by the G-banding method with the insertion of PML-RARα fusion gene in 4q21 was previously reported, 7 we could find no evidence of a relationship between 4q21 abnormalities and t(15;17) in our patient.…”

Section: Discussioncontrasting

confidence: 81%

Biphenotypic Acute Leukemia with t(15;17) Lacking Promyelocytic-Retinoid Acid Receptor α Rearrangement

et al. 2013

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Biphenotypic acute leukemias (BAL) account for less than 4% of all cases of acute leukemia. Philadelphia chromosome and 11q23 rearrangement are the most frequently found cytogenetic abnormalities. Since t(15;17) is almost always associated with acute promyelocytic leukemia, t(15;17) in BAL cases is extremely uncommon. We report here a rare and instructive case of BAL with t(15;17) and the successful treatment approach adopted. A 55-year old woman was referred to our hospital for an examination of elevated white blood cell (WBC) counts with blasts (WBC 13.4×109/L; 76% blasts). The blasts with acute lymphoblastic leukemia (ALL-L2, FAB) morphology co-expressed B-lymphoid and myeloid lineages, and a cytogenetic study revealed 4q21 abnormalities and t(15;17). However, promyelocytic-retinoid acid receptor α rearrangement was not detected by fluorescence in situ hybridization on interphase nuclei. Our patient was treated with chemotherapy for ALL and gemtuzumab ozogamicin without all-trans-retinoic acid, and has remained in hematologic first complete remission for more than 3.7 years.

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Section: Discussioncontrasting

confidence: 81%

Biphenotypic Acute Leukemia with t(15;17) Lacking Promyelocytic-Retinoid Acid Receptor α Rearrangement

et al. 2013

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“…Although 5q31 has rarely been reported in translocations in APL, rearrangements affecting 4q21, including complex insertion/rearrangements with PML-RAR␣, have been recurrently reported. 5,41,42 More generally, several structural chromosome changes seem of potential functional interest: they were predominantly newly present at relapse; most differ from ACAs commonly reported at diagnosis 43 and/or are contiguous to candidate leukemia/cancer genes (supplemental Table 13). Further study is required to determine whether any of the heterogeneous ACAs have clinically relevant functional significance or whether they represent adventitious abnormalities.…”

Section: Atra Impacts Mutation Associations In Relapse Apl 2105mentioning

confidence: 99%

Treatment-influenced associations of PML-RARα mutations, FLT3 mutations, and additional chromosome abnormalities in relapsed acute promyelocytic leukemia

Gallagher

Moser

Racevskis

et al. 2012

Blood

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“…In these rare cases, the cryptic transcript is usually detected by RT-qPCR and these patients can still benefit from ATRA and ATO since they are both targeted therapies against the action of the PML/RARα protein, although lacking the classic translocation. (14). Gudrun Göhring et al reported a masked t(15;17) with a complex karyotype involving the chromosomes 4, 6, 8, 10, 17, 18, and 21, a translocation between the chromosomes 5 and 17 were detected by multi-color FISH (mFISH) analysis (15).…”

Section: Discussionmentioning

confidence: 99%

Cryptic t(15;17) acute promyelocytic leukemia with a karyotype of add(11)(p15) and t(13,20)- A case report with a literature review

et al. 2020

Bosn J of Basic Med Sci

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Most acute promyelocytic leukemia (APL) are characterized by reciprocal translocations t(15;17)(q22;21), which results in the fusion of PML gene at 15q22 with RARα gene at 17q21. However, several complex variant translocations also have been reported. Here we report a 62-year-old man with typical morphology and clinical features of APL with a complex karyotype including add(11)(p15) and t(13,20)(q12;q11.2) without typical t(15;17) assayed by the G-banding analysis. FISH with a PML/RARα dual-color DNA probe showed an atypical fusion signal, RT-qPCR analysis showed PML/RARα fusion transcripts, and NGS detected FLT3, WT1, and KRAS mutations. The patient achieved complete remission after treatment with conventional chemotherapy combined ATRA and ATO. Although the mechanism of this kind of cryptic variant remains unknown, we conclude that the cryptic PML/RARα fusion with add(11)(p15), t(13,20)(q12;q11.2) seems not to alter the effectiveness of chemotherapy combined with ATRA and ATO.

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Masked t(15;17) APL with the insertion of PML–RARα fusion gene in 4q21

Cited by 5 publications

References 13 publications

Biphenotypic Acute Leukemia with t(15;17) Lacking Promyelocytic-Retinoid Acid Receptor α Rearrangement

Biphenotypic Acute Leukemia with t(15;17) Lacking Promyelocytic-Retinoid Acid Receptor α Rearrangement

Treatment-influenced associations of PML-RARα mutations, FLT3 mutations, and additional chromosome abnormalities in relapsed acute promyelocytic leukemia

Cryptic t(15;17) acute promyelocytic leukemia with a karyotype of add(11)(p15) and t(13,20)- A case report with a literature review

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