Reduced PLCG1 expression is associated with inferior survival for myelodysplastic syndromes

Abstract The PLCG1 gene, which encodes the phospholipase C γ1 isoform, is located within the commonly deleted region of the long arm of chromosome 20 (del(20q)) observed in myelodysplastic syndromes (MDS). Phospholipase C is involved in diverse physiological and pathological cellular processes throu...

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Main Authors: Masayuki Shiseki, Mayuko Ishii, Mari Miyazaki, Satoko Osanai, Yan‐Hua Wang, Kentaro Yoshinaga, Naoki Mori, Junji Tanaka
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Cancer Medicine
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Online Access:https://doi.org/10.1002/cam4.2717
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author Masayuki Shiseki
Mayuko Ishii
Mari Miyazaki
Satoko Osanai
Yan‐Hua Wang
Kentaro Yoshinaga
Naoki Mori
Junji Tanaka
author_facet Masayuki Shiseki
Mayuko Ishii
Mari Miyazaki
Satoko Osanai
Yan‐Hua Wang
Kentaro Yoshinaga
Naoki Mori
Junji Tanaka
author_sort Masayuki Shiseki
collection DOAJ
description Abstract The PLCG1 gene, which encodes the phospholipase C γ1 isoform, is located within the commonly deleted region of the long arm of chromosome 20 (del(20q)) observed in myelodysplastic syndromes (MDS). Phospholipase C is involved in diverse physiological and pathological cellular processes through inositide signaling. We hypothesized that reduced PLCG1 expression because of haploinsufficiency by del(20q) plays a role in the molecular pathogenesis of MDS. Therefore, we analyzed PLCG1 expression in bone marrow mononuclear cells at diagnosis in 116 MDS patients with or without del(20q) by quantitative RT‐PCR to evaluate its clinical significance. The expression level of PLCG1 was significantly lower not only in MDS patients with del(20q) but also in those without del(20q) compared to that of the controls, which suggests that reduced PLCG1 expression is a common molecular event in MDS. Patients in the lowest quartile (Q4) group for PLCG1 expression had lower overall survival (OS) compared to that of other patients (Q1‐Q3) (log‐rank test, P = .0004) with estimated median OS times of 22 in the Q4 group and 106 months in the Q1‐3 group. Univariate and multivariate analysis indicated reduced PLCG1 expression (Q4) was associated with lower OS (hazard ratio 2.58, 95% CI 1.35‐4.84, P = .0049), which suggests that reduced PLCG1 expression is an independent prognostic factor for OS. In addition, patients were well‐stratified for OS by combining PLCG1 expression level (Q4 vs Q1‐3) and bone marrow blast percentage (5% or more vs less than 5%). Thus, the level of PLCG1 expression at time of diagnosis is a prognostic biomarker for MDS.
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spelling doaj-art-e7059046425c4fd9a85dbfb08bc2d4d52025-08-25T10:14:04ZengWileyCancer Medicine2045-76342020-01-019246046810.1002/cam4.2717Reduced PLCG1 expression is associated with inferior survival for myelodysplastic syndromesMasayuki Shiseki0Mayuko Ishii1Mari Miyazaki2Satoko Osanai3Yan‐Hua Wang4Kentaro Yoshinaga5Naoki Mori6Junji Tanaka7Department of Hematology Tokyo Women's Medical University Tokyo JapanDepartment of Hematology Tokyo Women's Medical University Tokyo JapanDepartment of Hematology Tokyo Women's Medical University Tokyo JapanDepartment of Hematology Tokyo Women's Medical University Tokyo JapanDepartment of Hematology Tokyo Women's Medical University Tokyo JapanDepartment of Hematology Tokyo Women's Medical University Tokyo JapanDepartment of Hematology Tokyo Women's Medical University Tokyo JapanDepartment of Hematology Tokyo Women's Medical University Tokyo JapanAbstract The PLCG1 gene, which encodes the phospholipase C γ1 isoform, is located within the commonly deleted region of the long arm of chromosome 20 (del(20q)) observed in myelodysplastic syndromes (MDS). Phospholipase C is involved in diverse physiological and pathological cellular processes through inositide signaling. We hypothesized that reduced PLCG1 expression because of haploinsufficiency by del(20q) plays a role in the molecular pathogenesis of MDS. Therefore, we analyzed PLCG1 expression in bone marrow mononuclear cells at diagnosis in 116 MDS patients with or without del(20q) by quantitative RT‐PCR to evaluate its clinical significance. The expression level of PLCG1 was significantly lower not only in MDS patients with del(20q) but also in those without del(20q) compared to that of the controls, which suggests that reduced PLCG1 expression is a common molecular event in MDS. Patients in the lowest quartile (Q4) group for PLCG1 expression had lower overall survival (OS) compared to that of other patients (Q1‐Q3) (log‐rank test, P = .0004) with estimated median OS times of 22 in the Q4 group and 106 months in the Q1‐3 group. Univariate and multivariate analysis indicated reduced PLCG1 expression (Q4) was associated with lower OS (hazard ratio 2.58, 95% CI 1.35‐4.84, P = .0049), which suggests that reduced PLCG1 expression is an independent prognostic factor for OS. In addition, patients were well‐stratified for OS by combining PLCG1 expression level (Q4 vs Q1‐3) and bone marrow blast percentage (5% or more vs less than 5%). Thus, the level of PLCG1 expression at time of diagnosis is a prognostic biomarker for MDS.https://doi.org/10.1002/cam4.2717common deleted regiondel(20q)haploinsufficiencyMDSPLCG1
spellingShingle Masayuki Shiseki
Mayuko Ishii
Mari Miyazaki
Satoko Osanai
Yan‐Hua Wang
Kentaro Yoshinaga
Naoki Mori
Junji Tanaka
Reduced PLCG1 expression is associated with inferior survival for myelodysplastic syndromes
Cancer Medicine
common deleted region
del(20q)
haploinsufficiency
MDS
PLCG1
title Reduced PLCG1 expression is associated with inferior survival for myelodysplastic syndromes
title_full Reduced PLCG1 expression is associated with inferior survival for myelodysplastic syndromes
title_fullStr Reduced PLCG1 expression is associated with inferior survival for myelodysplastic syndromes
title_full_unstemmed Reduced PLCG1 expression is associated with inferior survival for myelodysplastic syndromes
title_short Reduced PLCG1 expression is associated with inferior survival for myelodysplastic syndromes
title_sort reduced plcg1 expression is associated with inferior survival for myelodysplastic syndromes
topic common deleted region
del(20q)
haploinsufficiency
MDS
PLCG1
url https://doi.org/10.1002/cam4.2717
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