التفاصيل البيبلوغرافية
| العنوان: |
CREBBP and STAT6 co-mutation and 16p13 and 1p36 loss define the t(14;18)-negative diffuse variant of follicular lymphoma |
| المؤلفون: |
Xian, Rena R, Xie, Yi, Haley, Lisa M, Yonescu, Raluca, Pallavajjala, Aparna, Pittaluga, Stefania, Jaffe, Elaine S, Duffield, Amy S, McCall, Chad M, Gheith, Shereen MF, Gocke, Christopher D |
| المصدر: |
Blood Cancer Journal, vol 10, iss 6 |
| بيانات النشر: |
eScholarship, University of California |
| سنة النشر: |
2020 |
| المجموعة: |
University of California: eScholarship |
| مصطلحات موضوعية: |
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Oncology and Carcinogenesis, Human Genome, Rare Diseases, Genetics, Hematology, Clinical Research, Cancer, Biotechnology, Lymphoma, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, CREB-Binding Protein, Chromosome Deletion, Chromosomes, Human, Pair 1, Pair 16, Female, Humans, Follicular, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide, STAT6 Transcription Factor |
| الوصف: |
The diffuse variant of follicular lymphoma (dFL) is a rare variant of FL lacking t(14;18) that was first described in 2009. In this study, we use a comprehensive approach to define unifying pathologic and genetic features through gold-standard pathologic review, FISH, SNP-microarray, and next-generation sequencing of 16 cases of dFL. We found unique morphologic features, including interstitial sclerosis, microfollicle formation, and rounded nuclear cytology, confirmed absence of t(14;18) and recurrent deletion of 1p36, and showed a novel association with deletion/CN-LOH of 16p13 (inclusive of CREBBP, CIITA, and SOCS1). Mutational profiling demonstrated near-uniform mutations in CREBBP and STAT6, with clonal dominance of CREBBP, among other mutations typical of germinal-center B-cell lymphomas. Frequent CREBBP and CIITA codeletion/mutation suggested a mechanism for immune evasion, while subclonal STAT6 activating mutations with concurrent SOCS1 loss suggested a mechanism of BCL-xL/BCL2L1 upregulation in the absence of BCL2 rearrangements. A review of the literature showed significant enrichment for 16p13 and 1p36 loss/CN-LOH, STAT6 mutation, and CREBBP and STAT6 comutation in dFL, as compared with conventional FL. With this comprehensive approach, our study demonstrates confirmatory and novel genetic associations that can aid in the diagnosis and subclassification of this rare type of lymphoma. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
unknown |
| العلاقة: |
qt39n9r2kj; https://escholarship.org/uc/item/39n9r2kjTest |
| الإتاحة: |
https://escholarship.org/uc/item/39n9r2kjTest |
| حقوق: |
public |
| رقم الانضمام: |
edsbas.473705E2 |
| قاعدة البيانات: |
BASE |
