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

52 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",

month = dec,

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

language = "English",

volume = "203",

pages = "278--283",

journal = "Cancer Genetics and Cytogenetics",

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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

TY - JOUR

T1 - FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses

T2 - A case study and review of the literature

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.

UR - https://www.scopus.com/pages/publications/78650018082

U2 - 10.1016/j.cancergencyto.2010.08.026

DO - 10.1016/j.cancergencyto.2010.08.026

M3 - Article

C2 - 21156244

AN - SCOPUS:78650018082

SN - 0165-4608

VL - 203

SP - 278

EP - 283

JO - Cancer Genetics and Cytogenetics

JF - Cancer Genetics and Cytogenetics

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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