FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: A case study and review of the literature

Min Jin Kim; Sun Young Cho; Myeong Hee Kim; Jae Jin Lee; So Young Kang; Eun Hae Cho; Jungwon Huh; Hwi Joong Yoon; Tae Sung Park; Woo In Lee; Rolf Marschalek; Claus Meyer

doi:10.1016/j.cancergencyto.2010.08.026

FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: A case study and review of the literature

Min Jin Kim, Sun Young Cho, Myeong Hee Kim, Jae Jin Lee, So Young Kang, Eun Hae Cho, Jungwon Huh, Hwi Joong Yoon, Tae Sung Park, Woo In Lee, Rolf Marschalek, Claus Meyer

Department of Laboratory Medicine

Research output: Contribution to journal › Article › peer-review

47 Scopus citations

Abstract

Although a normal karyotype according to conventional cytogenetic analysis in association with cryptic t(15;17) has been infrequently reported in cases of acute promyelocytic leukemia (APL), a fluorescence in situ hybridization (FISH)-negative cryptic PML-RARA rearrangement is even more rare, with only 12 such APL cases of FISH-negative cryptic PML-RARA rearrangements in the literature. Reported here is an additional clinical APL case with a FISH-negative cryptic PML-RARA rearrangement, confirmed by long-distance DNA polymerase chain reaction method. Discussion includes a relevant literature review of similar cases. DNA-PCR can be a useful tool for the analysis of complex and cryptic rearrangements.

Original language	English
Pages (from-to)	278-283
Number of pages	6
Journal	Cancer Genetics and Cytogenetics
Volume	203
Issue number	2
DOIs	https://doi.org/10.1016/j.cancergencyto.2010.08.026
State	Published - Dec 2010

Bibliographical note

Funding Information:
This work was supported by grant no. 107819 from Deutsche Krebshilfe (German Cancer Aid) to R.M. We thank Dr. José Luis Vizmanos for providing a copy of Ref. [25] and data.

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Kim, M. J., Cho, S. Y., Kim, M. H., Lee, J. J., Kang, S. Y., Cho, E. H., Huh, J., Yoon, H. J., Park, T. S., Lee, W. I., Marschalek, R., & Meyer, C. (2010). FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: A case study and review of the literature. Cancer Genetics and Cytogenetics, 203(2), 278-283. https://doi.org/10.1016/j.cancergencyto.2010.08.026

@article{45d222f2e1f34f3cbfb95cd0ab89d891,

title = "FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: A case study and review of the literature",

abstract = "Although a normal karyotype according to conventional cytogenetic analysis in association with cryptic t(15;17) has been infrequently reported in cases of acute promyelocytic leukemia (APL), a fluorescence in situ hybridization (FISH)-negative cryptic PML-RARA rearrangement is even more rare, with only 12 such APL cases of FISH-negative cryptic PML-RARA rearrangements in the literature. Reported here is an additional clinical APL case with a FISH-negative cryptic PML-RARA rearrangement, confirmed by long-distance DNA polymerase chain reaction method. Discussion includes a relevant literature review of similar cases. DNA-PCR can be a useful tool for the analysis of complex and cryptic rearrangements.",

author = "Kim, {Min Jin} and Cho, {Sun Young} and Kim, {Myeong Hee} and Lee, {Jae Jin} and Kang, {So Young} and Cho, {Eun Hae} and Jungwon Huh and Yoon, {Hwi Joong} and Park, {Tae Sung} and Lee, {Woo In} and Rolf Marschalek and Claus Meyer",

note = "Funding Information: This work was supported by grant no. 107819 from Deutsche Krebshilfe (German Cancer Aid) to R.M. We thank Dr. Jos{\'e} Luis Vizmanos for providing a copy of Ref. [25] and data. ",

year = "2010",

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doi = "10.1016/j.cancergencyto.2010.08.026",

language = "English",

volume = "203",

pages = "278--283",

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Kim, MJ, Cho, SY, Kim, MH, Lee, JJ, Kang, SY, Cho, EH, Huh, J, Yoon, HJ, Park, TS, Lee, WI, Marschalek, R & Meyer, C 2010, 'FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: A case study and review of the literature', Cancer Genetics and Cytogenetics, vol. 203, no. 2, pp. 278-283. https://doi.org/10.1016/j.cancergencyto.2010.08.026

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AU - Kim, Min Jin

AU - Cho, Sun Young

AU - Kim, Myeong Hee

AU - Lee, Jae Jin

AU - Kang, So Young

AU - Cho, Eun Hae

AU - Huh, Jungwon

AU - Yoon, Hwi Joong

AU - Park, Tae Sung

AU - Lee, Woo In

AU - Marschalek, Rolf

AU - Meyer, Claus

N1 - Funding Information: This work was supported by grant no. 107819 from Deutsche Krebshilfe (German Cancer Aid) to R.M. We thank Dr. José Luis Vizmanos for providing a copy of Ref. [25] and data.

PY - 2010/12

Y1 - 2010/12

N2 - Although a normal karyotype according to conventional cytogenetic analysis in association with cryptic t(15;17) has been infrequently reported in cases of acute promyelocytic leukemia (APL), a fluorescence in situ hybridization (FISH)-negative cryptic PML-RARA rearrangement is even more rare, with only 12 such APL cases of FISH-negative cryptic PML-RARA rearrangements in the literature. Reported here is an additional clinical APL case with a FISH-negative cryptic PML-RARA rearrangement, confirmed by long-distance DNA polymerase chain reaction method. Discussion includes a relevant literature review of similar cases. DNA-PCR can be a useful tool for the analysis of complex and cryptic rearrangements.

AB - Although a normal karyotype according to conventional cytogenetic analysis in association with cryptic t(15;17) has been infrequently reported in cases of acute promyelocytic leukemia (APL), a fluorescence in situ hybridization (FISH)-negative cryptic PML-RARA rearrangement is even more rare, with only 12 such APL cases of FISH-negative cryptic PML-RARA rearrangements in the literature. Reported here is an additional clinical APL case with a FISH-negative cryptic PML-RARA rearrangement, confirmed by long-distance DNA polymerase chain reaction method. Discussion includes a relevant literature review of similar cases. DNA-PCR can be a useful tool for the analysis of complex and cryptic rearrangements.

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IS - 2

ER -

FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: A case study and review of the literature

Abstract

Bibliographical note

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