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Rapid and sensitive detection of calreticulin type 1 and 2 mutations by real-time quantitative PCR

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Rapid and sensitive detection of calreticulin type 1 and 2 mutations by real-time quantitative PCR. / Zinke, Michael; Nageswaran, Vanasa; Reinhardt, Richard; Burmeister, Thomas.

In: MOL DIAGN THER, Vol. 19, No. 5, 10.2015, p. 329-34.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Zinke, M, Nageswaran, V, Reinhardt, R & Burmeister, T 2015, 'Rapid and sensitive detection of calreticulin type 1 and 2 mutations by real-time quantitative PCR', MOL DIAGN THER, vol. 19, no. 5, pp. 329-34. https://doi.org/10.1007/s40291-015-0162-3

APA

Zinke, M., Nageswaran, V., Reinhardt, R., & Burmeister, T. (2015). Rapid and sensitive detection of calreticulin type 1 and 2 mutations by real-time quantitative PCR. MOL DIAGN THER, 19(5), 329-34. https://doi.org/10.1007/s40291-015-0162-3

Vancouver

Zinke M, Nageswaran V, Reinhardt R, Burmeister T. Rapid and sensitive detection of calreticulin type 1 and 2 mutations by real-time quantitative PCR. MOL DIAGN THER. 2015 Oct;19(5):329-34. https://doi.org/10.1007/s40291-015-0162-3

Bibtex

@article{1dc73d0c6b03403eb95795bb4acfe664,
title = "Rapid and sensitive detection of calreticulin type 1 and 2 mutations by real-time quantitative PCR",
abstract = "BACKGROUND: The majority of patients with JAK2 V617F-negative essential thrombocythemia or primary myelofibrosis harbor mutations involving the calreticulin (CALR) gene. These mutations are located in CALR exon 9 and lead to a frameshift with subsequent alteration of the CALR protein C-terminus. They have emerged as valuable molecular markers for the diagnosis of clonal myeloproliferative diseases. Although a variety of CALR mutations have been described, two mutations, denoted type 1 and type 2, account for around 85 % of cases. The type 1 mutation encompasses a 52 bp deletion and the type 2 mutation a 5 bp TTGTC insertion.METHODS: This work describes the development and testing of quantitative real-time PCRs (qPCRs) for detecting these two mutations.RESULTS: The final type 1 CALR qPCR displayed a sensitivity of <0.1 % mutant alleles and the type 2 CALR qPCR had a sensitivity of <0.01 % mutant alleles. Additionally, two new CALR mutations are reported.CONCLUSION: These sensitive and specific qPCRs should be helpful in establishing the diagnosis and in monitoring minimal residual disease in patients during or after therapy.",
keywords = "Calreticulin, Humans, Janus Kinase 2, Mutagenesis, Insertional, Mutation, Myeloproliferative Disorders, Real-Time Polymerase Chain Reaction, Sensitivity and Specificity, Sequence Analysis, DNA, Sequence Deletion, Journal Article, Research Support, Non-U.S. Gov't",
author = "Michael Zinke and Vanasa Nageswaran and Richard Reinhardt and Thomas Burmeister",
year = "2015",
month = oct,
doi = "10.1007/s40291-015-0162-3",
language = "English",
volume = "19",
pages = "329--34",
journal = "MOL DIAGN THER",
issn = "1177-1062",
publisher = "Adis International Ltd",
number = "5",

}

RIS

TY - JOUR

T1 - Rapid and sensitive detection of calreticulin type 1 and 2 mutations by real-time quantitative PCR

AU - Zinke, Michael

AU - Nageswaran, Vanasa

AU - Reinhardt, Richard

AU - Burmeister, Thomas

PY - 2015/10

Y1 - 2015/10

N2 - BACKGROUND: The majority of patients with JAK2 V617F-negative essential thrombocythemia or primary myelofibrosis harbor mutations involving the calreticulin (CALR) gene. These mutations are located in CALR exon 9 and lead to a frameshift with subsequent alteration of the CALR protein C-terminus. They have emerged as valuable molecular markers for the diagnosis of clonal myeloproliferative diseases. Although a variety of CALR mutations have been described, two mutations, denoted type 1 and type 2, account for around 85 % of cases. The type 1 mutation encompasses a 52 bp deletion and the type 2 mutation a 5 bp TTGTC insertion.METHODS: This work describes the development and testing of quantitative real-time PCRs (qPCRs) for detecting these two mutations.RESULTS: The final type 1 CALR qPCR displayed a sensitivity of <0.1 % mutant alleles and the type 2 CALR qPCR had a sensitivity of <0.01 % mutant alleles. Additionally, two new CALR mutations are reported.CONCLUSION: These sensitive and specific qPCRs should be helpful in establishing the diagnosis and in monitoring minimal residual disease in patients during or after therapy.

AB - BACKGROUND: The majority of patients with JAK2 V617F-negative essential thrombocythemia or primary myelofibrosis harbor mutations involving the calreticulin (CALR) gene. These mutations are located in CALR exon 9 and lead to a frameshift with subsequent alteration of the CALR protein C-terminus. They have emerged as valuable molecular markers for the diagnosis of clonal myeloproliferative diseases. Although a variety of CALR mutations have been described, two mutations, denoted type 1 and type 2, account for around 85 % of cases. The type 1 mutation encompasses a 52 bp deletion and the type 2 mutation a 5 bp TTGTC insertion.METHODS: This work describes the development and testing of quantitative real-time PCRs (qPCRs) for detecting these two mutations.RESULTS: The final type 1 CALR qPCR displayed a sensitivity of <0.1 % mutant alleles and the type 2 CALR qPCR had a sensitivity of <0.01 % mutant alleles. Additionally, two new CALR mutations are reported.CONCLUSION: These sensitive and specific qPCRs should be helpful in establishing the diagnosis and in monitoring minimal residual disease in patients during or after therapy.

KW - Calreticulin

KW - Humans

KW - Janus Kinase 2

KW - Mutagenesis, Insertional

KW - Mutation

KW - Myeloproliferative Disorders

KW - Real-Time Polymerase Chain Reaction

KW - Sensitivity and Specificity

KW - Sequence Analysis, DNA

KW - Sequence Deletion

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1007/s40291-015-0162-3

DO - 10.1007/s40291-015-0162-3

M3 - SCORING: Journal article

C2 - 26294037

VL - 19

SP - 329

EP - 334

JO - MOL DIAGN THER

JF - MOL DIAGN THER

SN - 1177-1062

IS - 5

ER -