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Article ; Online: Cancer genes disfavoring T cell immunity identified via integrated systems approach.

2022 Volume 40, Issue 5, Page(s) 111153

Abstract: Adoptive T cell therapies (ACT) have been curative for a limited number of cancer patients ... The sensitization of cancer cells to T cell killing may expand the benefit of these therapies for more patients ... To this end, we use a three-step approach to identify cancer genes that disfavor T cell immunity. First ...

Abstract	Adoptive T cell therapies (ACT) have been curative for a limited number of cancer patients. The sensitization of cancer cells to T cell killing may expand the benefit of these therapies for more patients. To this end, we use a three-step approach to identify cancer genes that disfavor T cell immunity. First, we profile gene transcripts upregulated by cancer under selection pressure from T cell killing. Second, we identify potential tumor gene targets and pathways that disfavor T cell killing using signaling pathway activation libraries and genome-wide loss-of-function CRISPR-Cas9 screens. Finally, we implement pharmacological perturbation screens to validate these targets and identify BIRC2, ITGAV, DNPEP, BCL2, and ERRα as potential ACT-drug combination candidates. Here, we establish that BIRC2 limits antigen presentation and T cell recognition of tumor cells by suppressing IRF1 activity and provide evidence that BIRC2 inhibition in combination with ACT is an effective strategy to increase efficacy.
MeSH term(s)	Antigen Presentation ; CRISPR-Cas Systems/genetics ; Humans ; Neoplasms/genetics ; Oncogenes ; Systems Analysis ; T-Lymphocytes
Language	English
Publishing date	2022-08-04
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Intramural ; Research Support, N.I.H., Extramural
ZDB-ID	2649101-1
ISSN	2211-1247 ; 2211-1247
ISSN (online)	2211-1247
ISSN	2211-1247
DOI	10.1016/j.celrep.2022.111153
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Article ; Online: Immune biomarkers and response to checkpoint inhibition of BRAF

British journal of cancer

2021 Volume 126, Issue 6, Page(s) 889–898

Abstract: ... mutations/Mb versus 4.9, P < 0.001), but this difference was diminished when stratified by smoking status ... in Class II/III (P = 0.25), with median time on treatment of 1.9 months in both groups. Among patients ...

Abstract	Background: While 2-4% of lung cancers possess alterations in BRAF, little is known about the immune responsiveness of these tumours. Methods: Clinical and genomic data were collected from 5945 patients with lung cancers whose tumours underwent next-generation sequencing between 2015 and 2018. Patients were followed through 2020. Results: In total, 127 patients with metastatic BRAF-altered lung cancers were identified: 29 tumours had Class I mutations, 59 had Class II/III alterations, and 39 had variants of unknown significance (VUS). Tumour mutation burden was higher in Class II/III than Class I-altered tumours (8.8 mutations/Mb versus 4.9, P < 0.001), but this difference was diminished when stratified by smoking status. The overall response rate to immune checkpoint inhibitors (ICI) was 9% in Class I-altered tumours and 26% in Class II/III (P = 0.25), with median time on treatment of 1.9 months in both groups. Among patients with Class I-III-altered tumours, 36-month HR for death in those who ever versus never received ICI was 1.82 (1.17-6.11). Nine patients were on ICI for >2 years (two with Class I mutations, two with Class II/III alterations, and five with VUS). Conclusions: A subset of patients with BRAF-altered lung cancers achieved durable disease control on ICI. However, collectively no significant clinical benefit was seen.
MeSH term(s)	Biomarkers, Tumor/genetics ; Biomarkers, Tumor/immunology ; High-Throughput Nucleotide Sequencing ; Humans ; Immune Checkpoint Inhibitors/pharmacology ; Lung Neoplasms/drug therapy ; Lung Neoplasms/genetics ; Lung Neoplasms/immunology ; Mutation ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins B-raf/immunology
Chemical Substances	Biomarkers, Tumor ; Immune Checkpoint Inhibitors ; BRAF protein, human (EC 2.7.11.1) ; Proto-Oncogene Proteins B-raf (EC 2.7.11.1)
Language	English
Publishing date	2021-12-28
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	80075-2
ISSN	1532-1827 ; 0007-0920
ISSN (online)	1532-1827
ISSN	0007-0920
DOI	10.1038/s41416-021-01679-1
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Article ; Online: Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.

So, Po L / Luk, Ho M / Yu, Kris P T / Cheng, Shirley S W / Hau, Edgar W L / Ho, Stephanie K L / Lam, Stephen T S / Lo, Ivan F M

American journal of medical genetics. Part A

2020 Volume 185, Issue 3, Page(s) 675–686

Abstract: Kabuki syndrome (OMIM #147920 and 300867) is a rare genetic disorder characterized by a distinctive facial gestalt, intellectual disability and multiple congenital anomalies. We summarized the clinical features and molecular findings of the Kabuki ... ...

Abstract	Kabuki syndrome (OMIM #147920 and 300867) is a rare genetic disorder characterized by a distinctive facial gestalt, intellectual disability and multiple congenital anomalies. We summarized the clinical features and molecular findings of the Kabuki syndrome (KS) patients diagnosed in Hong Kong between January 1991 and December 2019. There were 21 molecularly confirmed KS. Twenty of them were due to pathogenic KMT2D variants and one patient had KDM6A deletion. Nine KMT2D variants were novel. The clinical phenotype of our Chinese KS patients was largely comparable with that reported in patients of other ethnicities. This study expands the mutation spectrum but also provide important natural history information of Chinese KS in literature.
MeSH term(s)	Abnormalities, Multiple/epidemiology ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adolescent ; Adult ; Asian Continental Ancestry Group/genetics ; Child ; Child, Preschool ; DNA-Binding Proteins/genetics ; Face/abnormalities ; Face/pathology ; Female ; Follow-Up Studies ; Hematologic Diseases/epidemiology ; Hematologic Diseases/genetics ; Hematologic Diseases/pathology ; Histone Demethylases/genetics ; Hong Kong/epidemiology ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Neoplasm Proteins/genetics ; Phenotype ; Prognosis ; Vestibular Diseases/epidemiology ; Vestibular Diseases/genetics ; Vestibular Diseases/pathology ; Young Adult
Chemical Substances	DNA-Binding Proteins ; KMT2D protein, human ; Neoplasm Proteins ; Histone Demethylases (EC 1.14.11.-) ; KDM6A protein, human (EC 1.14.11.-)
Language	English
Publishing date	2020-12-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62003
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Article ; Online: Dysregulation of PRMT5 in chronic lymphocytic leukemia promotes progression with high risk of Richter's transformation.

Hing, Zachary A / Walker, Janek S / Whipp, Ethan C / Brinton, Lindsey / Cannon, Matthew / Zhang, Pu / Sher, Steven / Cempre, Casey B / Brown, Fiona / Smith, Porsha L / Agostinelli, Claudio / Pileri, Stefano A / Skinner, Jordan N / Williams, Katie / Phillips, Hannah / Shaffer, Jami / Beaver, Larry P / Pan, Alexander / Shin, Kyle /

Nature communications

2023 Volume 14, Issue 1, Page(s) 97

Abstract: Richter's Transformation (RT) is a poorly understood and fatal progression of chronic lymphocytic leukemia (CLL) manifesting histologically as diffuse large B-cell lymphoma. Protein arginine methyltransferase 5 (PRMT5) is implicated in lymphomagenesis, ... ...

Abstract	Richter's Transformation (RT) is a poorly understood and fatal progression of chronic lymphocytic leukemia (CLL) manifesting histologically as diffuse large B-cell lymphoma. Protein arginine methyltransferase 5 (PRMT5) is implicated in lymphomagenesis, but its role in CLL or RT progression is unknown. We demonstrate herein that tumors uniformly overexpress PRMT5 in patients with progression to RT. Furthermore, mice with B-specific overexpression of hPRMT5 develop a B-lymphoid expansion with increased risk of death, and Eµ-PRMT5/TCL1 double transgenic mice develop a highly aggressive disease with transformation that histologically resembles RT; where large-scale transcriptional profiling identifies oncogenic pathways mediating PRMT5-driven disease progression. Lastly, we report the development of a SAM-competitive PRMT5 inhibitor, PRT382, with exclusive selectivity and optimal in vitro and in vivo activity compared to available PRMT5 inhibitors. Taken together, the discovery that PRMT5 drives oncogenic pathways promoting RT provides a compelling rationale for clinical investigation of PRMT5 inhibitors such as PRT382 in aggressive CLL/RT cases.
MeSH term(s)	Animals ; Mice ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/pathology ; Lymphoma, Large B-Cell, Diffuse/pathology
Language	English
Publishing date	2023-01-06
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-022-35778-1
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Article ; Online: A large-scale transcriptome-wide association study (TWAS) of 10 blood cell phenotypes reveals complexities of TWAS fine-mapping.

Tapia, Amanda L / Rowland, Bryce T / Rosen, Jonathan D / Preuss, Michael / Young, Kris / Graff, Misa / Choquet, Hélène / Couper, David J / Buyske, Steve / Bien, Stephanie A / Jorgenson, Eric / Kooperberg, Charles / Loos, Ruth J F / Morrison, Alanna C / North, Kari E / Yu, Bing / Reiner, Alexander P / Li, Yun / Raffield, Laura M

Genetic epidemiology

2021 Volume 46, Issue 1, Page(s) 3–16

Abstract: ... we replicated 71 associations at p < 0.05 in a TWAS meta-analysis consisting of up to 35,900 Europeans ...

Abstract	Hematological measures are important intermediate clinical phenotypes for many acute and chronic diseases and are highly heritable. Although genome-wide association studies (GWAS) have identified thousands of loci containing trait-associated variants, the causal genes underlying these associations are often uncertain. To better understand the underlying genetic regulatory mechanisms, we performed a transcriptome-wide association study (TWAS) to systematically investigate the association between genetically predicted gene expression and hematological measures in 54,542 Europeans from the Genetic Epidemiology Research on Aging cohort. We found 239 significant gene-trait associations with hematological measures; we replicated 71 associations at p < 0.05 in a TWAS meta-analysis consisting of up to 35,900 Europeans from the Women's Health Initiative, Atherosclerosis Risk in Communities Study, and BioMe Biobank. Additionally, we attempted to refine this list of candidate genes by performing conditional analyses, adjusting for individual variants previously associated with hematological measures, and performed further fine-mapping of TWAS loci. To facilitate interpretation of our findings, we designed an R Shiny application to interactively visualize our TWAS results by integrating them with additional genetic data sources (GWAS, TWAS from multiple reference panels, conditional analyses, known GWAS variants, etc.). Our results and application highlight frequently overlooked TWAS challenges and illustrate the complexity of TWAS fine-mapping.
MeSH term(s)	Blood Cells ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study/methods ; Humans ; Phenotype ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci ; Transcriptome
Language	English
Publishing date	2021-11-15
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	605785-8
ISSN	1098-2272 ; 0741-0395
ISSN (online)	1098-2272
ISSN	0741-0395
DOI	10.1002/gepi.22436
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Article ; Online: Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.

Yu, Kris P T / Luk, Ho-Ming / Gordon, Christopher T / Fung, Genevieve / Oufadem, Myriam / Garcia-Barcelo, Maria M / Amiel, Jeanne / Chung, Brian H Y / Lo, Ivan F M / Tiong, Yang Tan

Clinical dysmorphology

2018 Volume 27, Issue 2, Page(s) 31–35

Abstract: Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and ... ...

Abstract	Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance. Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities. Heterozygous mutations in the elongation factor Tu GTP-binding domain containing 2 (EFTUD2) gene have been shown to result in MFDGA. To date, there have been a total of 108 individuals reported in the literature, of whom 95 patients have a confirmed EFTUD2 mutation. The majority of individuals reported in the literature have been of White ethnic origin. Here, we report two individuals of Asian ancestry with MFDGA, each harboring a novel, pathogenic splice site variant in EFTUD2.
MeSH term(s)	Child, Preschool ; Developmental Disabilities/genetics ; Developmental Disabilities/physiopathology ; Female ; Heterozygote ; Humans ; Infant ; Male ; Mandibulofacial Dysostosis/genetics ; Mandibulofacial Dysostosis/physiopathology ; Mutation ; Peptide Elongation Factors/genetics ; Protein Isoforms/genetics ; Ribonucleoprotein, U5 Small Nuclear/genetics
Chemical Substances	EFTUD2 protein, human ; Peptide Elongation Factors ; Protein Isoforms ; Ribonucleoprotein, U5 Small Nuclear
Language	English
Publishing date	2018-01-29
Publishing country	England
Document type	Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0000000000000214
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Article ; Online: COVID-19 in patients with lung cancer.

Luo, J / Rizvi, H / Preeshagul, I R / Egger, J V / Hoyos, D / Bandlamudi, C / McCarthy, C G / Falcon, C J / Schoenfeld, A J / Arbour, K C / Chaft, J E / Daly, R M / Drilon, A / Eng, J / Iqbal, A / Lai, W V / Li, B T / Lito, P / Namakydoust, A /

Ng, K / Offin, M / Paik, P K / Riely, G J / Rudin, C M / Yu, H A / Zauderer, M G / Donoghue, M T A / Łuksza, M / Greenbaum, B D / Kris, M G / Hellmann, M D

Annals of oncology : official journal of the European Society for Medical Oncology

2020 Volume 31, Issue 10, Page(s) 1386–1396

Abstract: Background: Patients with lung cancers may have disproportionately severe coronavirus disease 2019 (COVID-19) outcomes. Understanding the patient-specific and cancer-specific features that impact the severity of COVID-19 may inform optimal cancer care ... ...

Abstract	Background: Patients with lung cancers may have disproportionately severe coronavirus disease 2019 (COVID-19) outcomes. Understanding the patient-specific and cancer-specific features that impact the severity of COVID-19 may inform optimal cancer care during this pandemic. Patients and methods: We examined consecutive patients with lung cancer and confirmed diagnosis of COVID-19 (n = 102) at a single center from 12 March 2020 to 6 May 2020. Thresholds of severity were defined a priori as hospitalization, intensive care unit/intubation/do not intubate ([ICU/intubation/DNI] a composite metric of severe disease), or death. Recovery was defined as >14 days from COVID-19 test and >3 days since symptom resolution. Human leukocyte antigen (HLA) alleles were inferred from MSK-IMPACT (n = 46) and compared with controls with lung cancer and no known non-COVID-19 (n = 5166). Results: COVID-19 was severe in patients with lung cancer (62% hospitalized, 25% died). Although severe, COVID-19 accounted for a minority of overall lung cancer deaths during the pandemic (11% overall). Determinants of COVID-19 severity were largely patient-specific features, including smoking status and chronic obstructive pulmonary disease [odds ratio for severe COVID-19 2.9, 95% confidence interval 1.07-9.44 comparing the median (23.5 pack-years) to never-smoker and 3.87, 95% confidence interval 1.35-9.68, respectively]. Cancer-specific features, including prior thoracic surgery/radiation and recent systemic therapies did not impact severity. Human leukocyte antigen supertypes were generally similar in mild or severe cases of COVID-19 compared with non-COVID-19 controls. Most patients recovered from COVID-19, including 25% patients initially requiring intubation. Among hospitalized patients, hydroxychloroquine did not improve COVID-19 outcomes. Conclusion: COVID-19 is associated with high burden of severity in patients with lung cancer. Patient-specific features, rather than cancer-specific features or treatments, are the greatest determinants of severity.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; B7-H1 Antigen/immunology ; B7-H1 Antigen/therapeutic use ; Betacoronavirus ; COVID-19 ; Coronavirus Infections/drug therapy ; Coronavirus Infections/epidemiology ; Coronavirus Infections/immunology ; Coronavirus Infections/therapy ; Female ; Follow-Up Studies ; Hospitalization/trends ; Humans ; Hydroxychloroquine/therapeutic use ; Lung Neoplasms/epidemiology ; Lung Neoplasms/immunology ; Lung Neoplasms/therapy ; Male ; Middle Aged ; Pandemics ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/immunology ; Pneumonia, Viral/therapy ; Retrospective Studies ; SARS-CoV-2
Chemical Substances	B7-H1 Antigen ; CD274 protein, human ; Hydroxychloroquine (4QWG6N8QKH)
Keywords	covid19
Language	English
Publishing date	2020-06-17
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1025984-3
ISSN	1569-8041 ; 0923-7534
ISSN (online)	1569-8041
ISSN	0923-7534
DOI	10.1016/j.annonc.2020.06.007
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Article ; Online: Overall survival with circulating tumor DNA-guided therapy in advanced non-small-cell lung cancer.

Jee, Justin / Lebow, Emily S / Yeh, Randy / Das, Jeeban P / Namakydoust, Azadeh / Paik, Paul K / Chaft, Jamie E / Jayakumaran, Gowtham / Rose Brannon, A / Benayed, Ryma / Zehir, Ahmet / Donoghue, Mark / Schultz, Nikolaus / Chakravarty, Debyani / Kundra, Ritika / Madupuri, Ramyasree / Murciano-Goroff, Yonina R / Tu, Hai-Yan / Xu, Chong-Rui /

Martinez, Andrés / Wilhelm, Clare / Galle, Jesse / Daly, Bobby / Yu, Helena A / Offin, Michael / Hellmann, Matthew D / Lito, Piro / Arbour, Kathryn C / Zauderer, Marjorie G / Kris, Mark G / Ng, Kenneth K / Eng, Juliana / Preeshagul, Isabel / Victoria Lai, W / Fiore, John J / Iqbal, Afsheen / Molena, Daniela / Rocco, Gaetano / Park, Bernard J / Lim, Lee P / Li, Mark / Tong-Li, Candace / De Silva, Madhawa / Chan, David L / Diakos, Connie I / Itchins, Malinda / Clarke, Stephen / Pavlakis, Nick / Lee, Adrian / Rekhtman, Natasha / Chang, Jason / Travis, William D / Riely, Gregory J / Solit, David B / Gonen, Mithat / Rusch, Valerie W / Rimner, Andreas / Gomez, Daniel / Drilon, Alexander / Scher, Howard I / Shah, Sohrab P / Berger, Michael F / Arcila, Maria E / Ladanyi, Marc / Levine, Ross L / Shen, Ronglai / Razavi, Pedram / Reis-Filho, Jorge S / Jones, David R / Rudin, Charles M / Isbell, James M / Li, Bob T

Nature medicine

2022 Volume 28, Issue 11, Page(s) 2353–2363

Abstract: ... confidence interval (CI), 1.74-2.42; P < 0.001) independently of clinicopathologic features and metabolic tumor volume ... had longer survival than those not treated with targeted therapy (HR, 0.63; 95% CI, 0.52-0.76; P < 0 ...

Abstract	Circulating tumor DNA (ctDNA) sequencing guides therapy decisions but has been studied mostly in small cohorts without sufficient follow-up to determine its influence on overall survival. We prospectively followed an international cohort of 1,127 patients with non-small-cell lung cancer and ctDNA-guided therapy. ctDNA detection was associated with shorter survival (hazard ratio (HR), 2.05; 95% confidence interval (CI), 1.74-2.42; P < 0.001) independently of clinicopathologic features and metabolic tumor volume. Among the 722 (64%) patients with detectable ctDNA, 255 (23%) matched to targeted therapy by ctDNA sequencing had longer survival than those not treated with targeted therapy (HR, 0.63; 95% CI, 0.52-0.76; P < 0.001). Genomic alterations in ctDNA not detected by time-matched tissue sequencing were found in 25% of the patients. These ctDNA-only alterations disproportionately featured subclonal drivers of resistance, including RICTOR and PIK3CA alterations, and were associated with short survival. Minimally invasive ctDNA profiling can identify heterogeneous drivers not captured in tissue sequencing and expand community access to life-prolonging therapy.
MeSH term(s)	Humans ; Circulating Tumor DNA/genetics ; Carcinoma, Non-Small-Cell Lung/drug therapy ; Carcinoma, Non-Small-Cell Lung/genetics ; Lung Neoplasms/drug therapy ; Lung Neoplasms/genetics ; Biomarkers, Tumor/genetics ; Mutation ; High-Throughput Nucleotide Sequencing
Chemical Substances	Circulating Tumor DNA ; Biomarkers, Tumor
Language	English
Publishing date	2022-11-10
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1220066-9
ISSN	1546-170X ; 1078-8956
ISSN (online)	1546-170X
ISSN	1078-8956
DOI	10.1038/s41591-022-02047-z
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Article ; Online: COVID-19 in patients with lung cancer

Luo, J. / Rizvi, H. / Preeshagul, I.R. / Egger, J.V. / Hoyos, D. / Bandlamudi, C. / McCarthy, C.G. / Falcon, C.J. / Schoenfeld, A.J. / Arbour, K.C. / Chaft, J.E. / Daly, R.M. / Drilon, A. / Eng, J. / Iqbal, A. / Lai, W.V. / Li, B.T. / Lito, P. / Namakydoust, A. /

Ng, K. / Offin, M. / Paik, P.K. / Riely, G.J. / Rudin, C.M. / Yu, H.A. / Zauderer, M.G. / Donoghue, M.T.A. / Łuksza, M. / Greenbaum, B.D. / Kris, M.G. / Hellmann, M.D.

Annals of Oncology

2020 Volume 31, Issue 10, Page(s) 1386–1396

Keywords	Oncology ; Hematology ; covid19
Language	English
Publisher	Elsevier BV
Publishing country	us
Document type	Article ; Online
ZDB-ID	1025984-3
ISSN	1569-8041 ; 0923-7534
ISSN (online)	1569-8041
ISSN	0923-7534
DOI	10.1016/j.annonc.2020.06.007
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Article ; Online: Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.

Yu, Kris P T / Luk, Ho-Ming / Leung, Gordon K C / Mak, Christopher C Y / Cheng, Shirley S W / Hau, Edgar W L / Chan, David K H / Lam, Stephen T S / Tong, Tony M F / Chung, Brian H Y / Lo, Ivan F M

American journal of medical genetics. Part C, Seminars in medical genetics

2019 Volume 181, Issue 2, Page(s) 208–217

Abstract: ... the mutations fall within Exon 3 of PTPN11 but not only restricted to the well-known hotspots, that is, p.Asp61 ... and p.Thr731, which suggested that re-evaluation of the current tumor surveillance recommendation ...

Abstract	RASopathies are a group of genetic disorders due to dysregulation of the RAS-MAPK signaling pathway, which is important in regulating cell growth, proliferation, and differentiation. These include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML), cardiofaciocutaneous (CFC) syndrome, and Costello syndrome (CS), clinical manifestations include growth retardation, developmental delay, cardiac defects, and specific dysmorphic features. There were abundant publications describing the genotype and phenotype from the Western populations. However, detailed study of RASopathies in Chinese population is lacking. We present here the largest cohort of RASopathies ever reported in Chinese populations, detailing the mutation spectrum and clinical phenotypes of these patients. The Clinical Genetic Service, Department of Health, and Queen Mary Hospital are tertiary referral centers for genetic disorders in Hong Kong. We retrospectively reviewed all the genetically confirmed cases of RASopathies, including NS, NSML, CFC syndrome, and CS, over the past 29 years (from 1989 to 2017). Analyses of the mutation spectrum and clinical phenotypes were performed. One hundred and ninety-one ethnic Chinese patients with genetically confirmed RASopathies were identified, including 148 patients with NS, 23 NSML, 12 CFC syndrome, and eight CS. We found a lower incidence of hypertrophic cardiomyopathy in individuals with NSML (27.3%), and NS caused by RAF1 mutations (62.5%). Another significant finding was for those NS patients with myeloproliferative disorder, the mutations fall within Exon 3 of PTPN11 but not only restricted to the well-known hotspots, that is, p.Asp61 and p.Thr731, which suggested that re-evaluation of the current tumor surveillance recommendation maybe warranted.
MeSH term(s)	Costello Syndrome/genetics ; Costello Syndrome/pathology ; Ectodermal Dysplasia/genetics ; Ectodermal Dysplasia/pathology ; Facies ; Failure to Thrive/genetics ; Failure to Thrive/pathology ; Female ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/pathology ; Hong Kong ; Humans ; LEOPARD Syndrome/genetics ; LEOPARD Syndrome/pathology ; MAP Kinase Signaling System/genetics ; Male ; Mutation ; Noonan Syndrome/genetics ; Noonan Syndrome/pathology ; Phenotype ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics ; Retrospective Studies ; ras Proteins/genetics
Chemical Substances	PTPN11 protein, human (EC 3.1.3.48) ; Protein Tyrosine Phosphatase, Non-Receptor Type 11 (EC 3.1.3.48) ; ras Proteins (EC 3.6.5.2)
Language	English
Publishing date	2019-03-21
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.31692
Database	MEDical Literature Analysis and Retrieval System OnLINE

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