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STAT Family Gene Mutation

MedGen UID:
1617188
•Concept ID:
C4526667
•
Cell or Molecular Dysfunction
Synonyms: Mutant STAT; Mutant STAT Family Gene; Signal Transducer and Activator of Transcription Family Gene Mutation; STAT Family Mutation; STAT Mutation

Definition

A change in the nucleotide sequence in a STAT family gene. [from NCI]

Professional guidelines

PubMed

Modeling cardiomyocyte signaling and metabolism predicts genotype-to-phenotype mechanisms in hypertrophic cardiomyopathy.
Khalilimeybodi A, Saucerman JJ, Rangamani P
Comput Biol Med 2024 Jun;175:108499. Epub 2024 Apr 24 doi: 10.1016/j.compbiomed.2024.108499. PMID: 38677172Free PMC Article
Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies.
Hartinger R, Lederer EM, Schena E, Lattanzi G, Djabali K
Cells 2023 May 9;12(10) doi: 10.3390/cells12101350. PMID: 37408186Free PMC Article
STAT signaling in the pathogenesis and treatment of cancer.
Frank DA
Mol Med 1999 Jul;5(7):432-56. PMID: 10449805Free PMC Article

Recent clinical studies

Etiology

ZMIZ proteins: partners in transcriptional regulation and risk factors for human disease.
Lomelí H
J Mol Med (Berl) 2022 Jul;100(7):973-983. Epub 2022 Jun 7 doi: 10.1007/s00109-022-02216-0. PMID: 35670836
Philadelphia chromosome-like acute lymphoblastic leukemia.
Tasian SK, Loh ML, Hunger SP
Blood 2017 Nov 9;130(19):2064-2072. Epub 2017 Oct 2 doi: 10.1182/blood-2017-06-743252. PMID: 28972016Free PMC Article
Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article
STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.
Lorenzini T, Dotta L, Giacomelli M, Vairo D, Badolato R
J Leukoc Biol 2017 Jan;101(1):29-38. Epub 2016 Nov 1 doi: 10.1189/jlb.5RI0516-237RR. PMID: 27803128
Ph-like acute lymphoblastic leukemia.
Tran TH, Loh ML
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):561-566. doi: 10.1182/asheducation-2016.1.561. PMID: 27913529Free PMC Article

Diagnosis

The potential and controversy of targeting STAT family members in cancer.
Verhoeven Y, Tilborghs S, Jacobs J, De Waele J, Quatannens D, Deben C, Prenen H, Pauwels P, Trinh XB, Wouters A, Smits ELJ, Lardon F, van Dam PA
Semin Cancer Biol 2020 Feb;60:41-56. Epub 2019 Oct 9 doi: 10.1016/j.semcancer.2019.10.002. PMID: 31605750
Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article
Tyrosine kinase 2 - Surveillant of tumours and bona fide oncogene.
Leitner NR, Witalisz-Siepracka A, Strobl B, Müller M
Cytokine 2017 Jan;89:209-218. Epub 2015 Nov 26 doi: 10.1016/j.cyto.2015.10.015. PMID: 26631911
TC-PTP and PTP1B: Regulating JAK-STAT signaling, controlling lymphoid malignancies.
Pike KA, Tremblay ML
Cytokine 2016 Jun;82:52-7. Epub 2016 Jan 23 doi: 10.1016/j.cyto.2015.12.025. PMID: 26817397
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR, Futreal PA, Erber WN, McMullin MF, Harrison CN, Warren AJ, Gilliland DG, Lodish HF, Green AR
N Engl J Med 2007 Feb 1;356(5):459-68. doi: 10.1056/NEJMoa065202. PMID: 17267906Free PMC Article

Therapy

Double-edged roles of protein tyrosine phosphatase SHP2 in cancer and its inhibitors in clinical trials.
Song Y, Zhao M, Zhang H, Yu B
Pharmacol Ther 2022 Feb;230:107966. Epub 2021 Aug 14 doi: 10.1016/j.pharmthera.2021.107966. PMID: 34403682
The potential and controversy of targeting STAT family members in cancer.
Verhoeven Y, Tilborghs S, Jacobs J, De Waele J, Quatannens D, Deben C, Prenen H, Pauwels P, Trinh XB, Wouters A, Smits ELJ, Lardon F, van Dam PA
Semin Cancer Biol 2020 Feb;60:41-56. Epub 2019 Oct 9 doi: 10.1016/j.semcancer.2019.10.002. PMID: 31605750
Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article
Ph-like acute lymphoblastic leukemia.
Tran TH, Loh ML
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):561-566. doi: 10.1182/asheducation-2016.1.561. PMID: 27913529Free PMC Article
JAK-mutant myeloproliferative neoplasms.
Levine RL
Curr Top Microbiol Immunol 2012;355:119-33. doi: 10.1007/82_2011_170. PMID: 21823028

Prognosis

Classical Philadelphia-negative myeloproliferative neoplasms (MPNs): A continuum of different disease entities.
Coltro G, Loscocco GG, Vannucchi AM
Int Rev Cell Mol Biol 2021;365:1-69. Epub 2021 Sep 28 doi: 10.1016/bs.ircmb.2021.09.001. PMID: 34756241
Expression and survival analysis of the STAT gene family in diffuse gliomas using integrated bioinformatics.
Wang L, Xu D, Cai L, Dai J, Li Y, Xu H
Curr Res Transl Med 2021 May;69(2):103274. Epub 2021 Apr 6 doi: 10.1016/j.retram.2020.103274. PMID: 33836320
The potential and controversy of targeting STAT family members in cancer.
Verhoeven Y, Tilborghs S, Jacobs J, De Waele J, Quatannens D, Deben C, Prenen H, Pauwels P, Trinh XB, Wouters A, Smits ELJ, Lardon F, van Dam PA
Semin Cancer Biol 2020 Feb;60:41-56. Epub 2019 Oct 9 doi: 10.1016/j.semcancer.2019.10.002. PMID: 31605750
Inhibition of ATM reverses EMT and decreases metastatic potential of cisplatin-resistant lung cancer cells through JAK/STAT3/PD-L1 pathway.
Shen M, Xu Z, Xu W, Jiang K, Zhang F, Ding Q, Xu Z, Chen Y
J Exp Clin Cancer Res 2019 Apr 8;38(1):149. doi: 10.1186/s13046-019-1161-8. PMID: 30961670Free PMC Article
Ph-like acute lymphoblastic leukemia.
Tran TH, Loh ML
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):561-566. doi: 10.1182/asheducation-2016.1.561. PMID: 27913529Free PMC Article

Clinical prediction guides

Modeling cardiomyocyte signaling and metabolism predicts genotype-to-phenotype mechanisms in hypertrophic cardiomyopathy.
Khalilimeybodi A, Saucerman JJ, Rangamani P
Comput Biol Med 2024 Jun;175:108499. Epub 2024 Apr 24 doi: 10.1016/j.compbiomed.2024.108499. PMID: 38677172Free PMC Article
Phenogenomic heterogeneity of post-transplant plasmablastic lymphomas.
Leeman-Neill RJ, Soderquist CR, Montanari F, Raciti P, Park D, Radeski D, Mansukhani MM, Murty VV, Hsiao S, Alobeid B, Bhagat G
Haematologica 2022 Jan 1;107(1):201-210. doi: 10.3324/haematol.2020.267294. [Epub ahead of print] PMID: 33297669Free PMC Article
Classical Philadelphia-negative myeloproliferative neoplasms (MPNs): A continuum of different disease entities.
Coltro G, Loscocco GG, Vannucchi AM
Int Rev Cell Mol Biol 2021;365:1-69. Epub 2021 Sep 28 doi: 10.1016/bs.ircmb.2021.09.001. PMID: 34756241
The potential and controversy of targeting STAT family members in cancer.
Verhoeven Y, Tilborghs S, Jacobs J, De Waele J, Quatannens D, Deben C, Prenen H, Pauwels P, Trinh XB, Wouters A, Smits ELJ, Lardon F, van Dam PA
Semin Cancer Biol 2020 Feb;60:41-56. Epub 2019 Oct 9 doi: 10.1016/j.semcancer.2019.10.002. PMID: 31605750
JAK/STAT signaling in hematological malignancies.
Vainchenker W, Constantinescu SN
Oncogene 2013 May 23;32(21):2601-13. Epub 2012 Aug 6 doi: 10.1038/onc.2012.347. PMID: 22869151

Recent systematic reviews

Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D
J Exp Med 2024 Jun 3;221(6) Epub 2024 Apr 2 doi: 10.1084/jem.20232387. PMID: 38563820Free PMC Article

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