Detection of MYD88 L265P in patients with lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia and other B-cell non-Hodgkin lymphomas

Sang-Yong Shin; Seung-Tae Lee; Hyun-Young Kim; Chang-Hun Park; Hee-Jin Kim; Jong-Won Kim; Seok Jin Kim; Won Seog Kim; Sun-Hee Kim

doi:10.5045/br.2016.51.3.181

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Original Article

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Blood Res 2016; 51(3):

Published online September 23, 2016

https://doi.org/10.5045/br.2016.51.3.181

Detection of MYD88 L265P in patients with lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia and other B-cell non-Hodgkin lymphomas

Sang-Yong Shin¹, Seung-Tae Lee^4*, Hyun-Young Kim², Chang-Hun Park², Hee-Jin Kim², Jong-Won Kim², Seok Jin Kim³, Won Seog Kim³, and Sun-Hee Kim^2*

Author Info. +

¹Department of Laboratory Medicine, Center for Diagnostic Oncology, Hospital and Research Institute, National Cancer Center, Goyang, Korea.

²Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

³Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

⁴Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

Correspondence to : Correspondence to Seung-Tae Lee, M.D., Ph.D. Department of Laboratory Medicine, Yonsei University College of Medicine, 50, Yonsei-ro, Seodaemun-gu, Seoul 03722, Korea. LEE.ST@yuhs.ac

Received: April 2, 2016; Revised: April 24, 2016; Accepted: May 31, 2016

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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Abstract

Background

Recent studies have identified a high prevalence of the MYD88 L265P mutation in lymphoplasmacytic lymphoma (LPL)/Waldenstrom macroglobulinemia (WM) cases, whereas low frequencies have been observed in other B cell non-Hodgkin lymphomas (NHLs).

Methods

We evaluated the sensitivity of the mutant enrichment 3'-modified oligonucleotide (MEMO)-PCR technique, a new detection method. We examined the MYD88 L265P mutation in a series of Korean patients with LPL/WM and other B cell NHLs in bone marrow aspirates, using the MEMO-PCR technique.

Results

The sensitivity of MEMO-PCR was estimated to be approximately 10-16.7%. MYD88 L265P was detected in 21 of 28 LPL cases (75%) and only three of 69 B cell NHL cases (4.3%).

Conclusion

Although MEMO-PCR had relatively low sensitivity, we confirmed the high prevalence of the MYD88 L265P mutation in Korean LPL patients. Our study suggests the diagnostic value of MYD88 L265P for differentiating B-cell NHLs.

Keywords Lymphoplasmacytic lymphoma, MYD88 L265P, Aspirate, MEMO-PCR

Article

Original Article

Blood Res 2016; 51(3): 181-186

Published online September 23, 2016 https://doi.org/10.5045/br.2016.51.3.181

Detection of MYD88 L265P in patients with lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia and other B-cell non-Hodgkin lymphomas

Sang-Yong Shin¹, Seung-Tae Lee^4*, Hyun-Young Kim², Chang-Hun Park², Hee-Jin Kim², Jong-Won Kim², Seok Jin Kim³, Won Seog Kim³, and Sun-Hee Kim^2*

¹Department of Laboratory Medicine, Center for Diagnostic Oncology, Hospital and Research Institute, National Cancer Center, Goyang, Korea.

²Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

³Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

⁴Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

Correspondence to: Correspondence to Seung-Tae Lee, M.D., Ph.D. Department of Laboratory Medicine, Yonsei University College of Medicine, 50, Yonsei-ro, Seodaemun-gu, Seoul 03722, Korea. LEE.ST@yuhs.ac

Received: April 2, 2016; Revised: April 24, 2016; Accepted: May 31, 2016

Abstract

Background

Methods

Results

The sensitivity of MEMO-PCR was estimated to be approximately 10-16.7%. MYD88 L265P was detected in 21 of 28 LPL cases (75%) and only three of 69 B cell NHL cases (4.3%).

Conclusion

Keywords: Lymphoplasmacytic lymphoma, MYD88 L265P, Aspirate, MEMO-PCR

Abstract

Fig 1.

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Figure 1.

Principles of MEMO-PCR for MYD88 L265P detection. Blocking primers, complementary to the normal sequence, anneal to normal DNA, hampering PCR amplification. In the presence of a missense mutation, the binding affinity of the blocking primers to the mutant DNA is decreased due to the mismatch, and therefore, amplification of the mutant DNA is markedly enhanced.

Blood Research 2016; 51: 181-186https://doi.org/10.5045/br.2016.51.3.181

Fig 2.

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Figure 2.

Sensitivity of MEMO-PCR (estimated to be approximately 10–16.7%) and sequencing analysis.

Blood Research 2016; 51: 181-186https://doi.org/10.5045/br.2016.51.3.181

Table 1 Demographics and clinical characteristics of LPL/WM.

Abbreviations: FISH, fluorescence in situ hybridization; BUN, blood urea nitrogen; LPL/WM, lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia; NA, not available; NHL, non-Hodgkin lymphoma; SD, standard deviation..

Table 2 Prevalence of <italic>MYD88</italic> L265P in LPL/WM and other B-cell NHLs.

Table 3 Clinical characteristics of LPL/WM according to <italic>MYD88</italic> L265P status.

^a)17 cases and 6 cases were available for serum paraprotein levels..

Abbreviations: BUN, blood urea nitrogen; LPL/WM, lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia; SD, standard deviation..