1
|
Collini P, Sorensen PH, Patel S, Blay JY,
Issels RD, Maki RG, Eriksson M and del Muro XG: Sarcomas with
spindle cell morphology. Semin Oncol. 36:324–337. 2009. View Article : Google Scholar : PubMed/NCBI
|
2
|
Fisher C: Spindle cell sarcomas. Surg
Pathol Clin. 4:721–744. 2011. View Article : Google Scholar : PubMed/NCBI
|
3
|
Heim S and Mitelman F: Cancer
Cytogenetics: Chromosomal and Molecular Genetic Abberations of
Tumor Cells. Fourth. Wiley-Blackwell; 2015, doi:
10.1002/9781118795569. View Article : Google Scholar
|
4
|
Sandberg AA and Bridge JA: Updates on the
cytogenetics and molecular genetics of bone and soft tissue tumors:
Congenital (infantile) fibrosarcoma and mesoblastic nephroma.
Cancer Genet Cytogenet. 132:1–13. 2002. View Article : Google Scholar : PubMed/NCBI
|
5
|
Llombart B, Serra-Guillén C, Monteagudo C,
López Guerrero JA and Sanmartín O: Dermatofibrosarcoma protuberans:
A comprehensive review and update on diagnosis and management.
Semin Diagn Pathol. 30:13–28. 2013. View Article : Google Scholar : PubMed/NCBI
|
6
|
Fletcher CDM, Bridge JA, Hogendoorn PCW
and Mertens F: WHO Classification of Tumours of Soft Tissue and
Bone. 4th. IARC; Lyon: 2013
|
7
|
Chmielecki J, Crago AM, Rosenberg M,
O'Connor R, Walker SR, Ambrogio L, Auclair D, McKenna A, Heinrich
MC, Frank DA, et al: Whole-exome sequencing identifies a recurrent
NAB2-STAT6 fusion in solitary fibrous tumors. Nat Genet.
45:131–132. 2013. View
Article : Google Scholar : PubMed/NCBI
|
8
|
Mohajeri A, Tayebwa J, Collin A, Nilsson
J, Magnusson L, von Steyern FV, Brosjö O, Domanski HA, Larsson O,
Sciot R, et al: Comprehensive genetic analysis identifies a
pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic
imbalances, and a characteristic gene expression profile in
solitary fibrous tumor. Genes Chromosomes Cancer. 52:873–886. 2013.
View Article : Google Scholar : PubMed/NCBI
|
9
|
Robinson DR, Wu YM, Kalyana-Sundaram S,
Cao X, Lonigro RJ, Sung YS, Chen CL, Zhang L, Wang R, Su F, et al:
Identification of recurrent NAB2-STAT6 gene fusions in solitary
fibrous tumor by integrative sequencing. Nat Genet. 45:180–185.
2013. View
Article : Google Scholar : PubMed/NCBI
|
10
|
Schweizer L, Koelsche C, Sahm F, Piro RM,
Capper D, Reuss DE, Pusch S, Habel A, Meyer J, Göck T, et al:
Meningeal hemangiopericytoma and solitary fibrous tumors carry the
NAB2-STAT6 fusion and can be diagnosed by nuclear expression of
STAT6 protein. Acta Neuropathol. 125:651–658. 2013. View Article : Google Scholar : PubMed/NCBI
|
11
|
Fruth K, Hansen T, Katenkamp D, Mann W and
Lippert BM: Recurrence of a laryngeal spindle cell sarcoma with a
transformation into a higher grade of malignancy. Auris Nasus
Larynx. 36:491–495. 2009. View Article : Google Scholar : PubMed/NCBI
|
12
|
Alaggio R, Rosolen A, Sartori F, Leszl A,
d'Amore ES, Bisogno G, Carli M, Cecchetto G, Coffin CM and Ninfo V:
Spindle cell tumor with EWS-WT1 transcript and a favorable clinical
course: A variant of DSCT, a variant of leiomyosarcoma, or a new
entity? Report of 2 pediatric cases. Am J Surg Pathol. 31:454–459.
2007. View Article : Google Scholar : PubMed/NCBI
|
13
|
Panagopoulos I, Bjerkehagen B, Gorunova L,
Berner JM, Boye K and Heim S: Several fusion genes identified by
whole transcriptome sequencing in a spindle cell sarcoma with
rearrangements of chromosome arm 12q and MDM2 amplification. Int J
Oncol. 45:1829–1836. 2014.PubMed/NCBI
|
14
|
Nord KH, Macchia G, Tayebwa J, Nilsson J,
von Steyern F Vult, Brosjö O, Mandahl N and Mertens F: Integrative
genome and transcriptome analyses reveal two distinct types of ring
chromosome in soft tissue sarcomas. Hum Mol Genet. 23:878–888.
2014. View Article : Google Scholar : PubMed/NCBI
|
15
|
Lestou VS, O'Connell JX, Ludkovski O,
Gosling H, Lesack D and Horsman DE: Coamplification of 12p11 and
12q13 approximately q22 in multiple ring chromosomes in a spindle
cell sarcoma resolved by novel multicolor fluorescence in situ
hybridization analysis. Cancer Genet Cytogenet. 139:44–47. 2002.
View Article : Google Scholar : PubMed/NCBI
|
16
|
Mandahl N: Methods in solid tumour
cytogeneticsHuman cytogenetics: Malignancy and Acquired
Abnormalities. Rooney DE: 3rd. Oxford University Press; New York:
pp. 165–203. 2001
|
17
|
Schaffer LG, McGowan-Jordan J and Schmid
M: ISCN 2013: An International System for Human Cytogenetic
Nomenclature Karger, Basel. 2013. View Article : Google Scholar
|
18
|
Panagopoulos I, Gorunova L, Bjerkehagen B
and Heim S: The ‘grep’ command but not FusionMap, FusionFinder or
ChimeraScan captures the CIC-DUX4 fusion gene from whole
transcriptome sequencing data on a small round cell tumor with
t(4;19)(q35;q13). PLoS One. 9:e994392014. View Article : Google Scholar : PubMed/NCBI
|
19
|
Nicorici D, Satalan H, Edgren H,
Kangaspeska S, Murumagi A, Kallioniemi O, Virtanen S and Kikku O:
FusionCatcher - a tool for finding somatic fusion genes in
paired-end RNA-sequencing data. bioRxiv. 2014.doi:
10.1101/011650.
|
20
|
Andersson AK, Ma J, Wang J, Chen X, Gedman
AL, Dang J, Nakitandwe J, Holmfeldt L, Parker M, Easton J, et al:
St. Jude Children's Research Hospital-Washington University
Pediatric Cancer Genome Project: The landscape of somatic mutations
in infant MLL-rearranged acute lymphoblastic leukemias. Nat Genet.
47:330–337. 2015. View
Article : Google Scholar : PubMed/NCBI
|
21
|
Chen K, Navin NE, Wang Y, Schmidt HK,
Wallis JW, Niu B, Fan X, Zhao H, McLellan MD, Hoadley KA, et al:
BreakTrans: Uncovering the genomic architecture of gene fusions.
Genome Biol. 14:R872013. View Article : Google Scholar : PubMed/NCBI
|
22
|
Yoshihara K, Wang Q, Torres-Garcia W,
Zheng S, Vegesna R, Kim H and Verhaak RG: The landscape and
therapeutic relevance of cancer-associated transcript fusions.
Oncogene. 34:4845–4854. 2015. View Article : Google Scholar : PubMed/NCBI
|
23
|
Faber PW, Barnes GT, Srinidhi J, Chen J,
Gusella JF and MacDonald ME: Huntingtin interacts with a family of
WW domain proteins. Hum Mol Genet. 7:1463–1474. 1998. View Article : Google Scholar : PubMed/NCBI
|
24
|
Rega S, Stiewe T, Chang DI, Pollmeier B,
Esche H, Bardenheuer W, Marquitan G and Pützer BM: Identification
of the full-length huntingtin-interacting protein p231HBP/HYPB as a
DNA-binding factor. Mol Cell Neurosci. 18:68–79. 2001. View Article : Google Scholar : PubMed/NCBI
|
25
|
Sun XJ, Wei J, Wu XY, Hu M, Wang L, Wang
HH, Zhang QH, Chen SJ, Huang QH and Chen Z: Identification and
characterization of a novel human histone H3 lysine 36-specific
methyltransferase. J Biol Chem. 280:35261–35271. 2005. View Article : Google Scholar : PubMed/NCBI
|
26
|
Edmunds JW, Mahadevan LC and Clayton AL:
Dynamic histone H3 methylation during gene induction: HYPB/Setd2
mediates all H3K36 trimethylation. EMBO J. 27:406–420. 2008.
View Article : Google Scholar : PubMed/NCBI
|
27
|
Wagner EJ and Carpenter PB: Understanding
the language of Lys36 methylation at histone H3. Nat Rev Mol Cell
Biol. 13:115–126. 2012. View Article : Google Scholar : PubMed/NCBI
|
28
|
Kizer KO, Phatnani HP, Shibata Y, Hall H,
Greenleaf AL and Strahl BD: A novel domain in Set2 mediates RNA
polymerase II interaction and couples histone H3 K36 methylation
with transcript elongation. Mol Cell Biol. 25:3305–3316. 2005.
View Article : Google Scholar : PubMed/NCBI
|
29
|
Kudithipudi S and Jeltsch A: Role of
somatic cancer mutations in human protein lysine
methyltransferases. Biochim Biophys Acta. 1846:366–379.
2014.PubMed/NCBI
|
30
|
Duns G, van den Berg E, van Duivenbode I,
Osinga J, Hollema H, Hofstra RM and Kok K: Histone
methyltransferase gene SETD2 is a novel tumor suppressor gene in
clear cell renal cell carcinoma. Cancer Res. 70:4287–4291. 2010.
View Article : Google Scholar : PubMed/NCBI
|
31
|
Hakimi AA, Ostrovnaya I, Reva B, Schultz
N, Chen YB, Gonen M, Liu H, Takeda S, Voss MH, Tickoo SK, et al:
Adverse outcomes in clear cell renal cell carcinoma with mutations
of 3p21 epigenetic regulators BAP1 and SETD2: A report by MSKCC and
the KIRC TCGA research network. Clin Cancer Res. 19:3259–3267.
2013. View Article : Google Scholar : PubMed/NCBI
|
32
|
Al Sarakbi W, Sasi W, Jiang WG, Roberts T,
Newbold RF and Mokbel K: The mRNA expression of SETD2 in human
breast cancer: Correlation with clinico-pathological parameters.
BMC Cancer. 9:2902009. View Article : Google Scholar : PubMed/NCBI
|
33
|
Newbold RF and Mokbel K: Evidence for a
tumour suppressor function of SETD2 in human breast cancer: A new
hypothesis. Anticancer Res. 30:3309–3311. 2010.PubMed/NCBI
|
34
|
Fontebasso AM, Schwartzentruber J,
Khuong-Quang DA, Liu XY, Sturm D, Korshunov A, Jones DT, Witt H,
Kool M, Albrecht S, et al: Mutations in SETD2 and genes affecting
histone H3K36 methylation target hemispheric high-grade gliomas.
Acta Neuropathol. 125:659–669. 2013. View Article : Google Scholar : PubMed/NCBI
|
35
|
Mar BG, Bullinger LB, McLean KM, Grauman
PV, Harris MH, Stevenson K, Neuberg DS, Sinha AU, Sallan SE,
Silverman LB, et al: Mutations in epigenetic regulators including
SETD2 are gained during relapse in paediatric acute lymphoblastic
leukaemia. Nat Commun. 5:34692014. View Article : Google Scholar : PubMed/NCBI
|
36
|
Zhu X, He F, Zeng H, Ling S, Chen A, Wang
Y, Yan X, Wei W, Pang Y, Cheng H, et al: Identification of
functional cooperative mutations of SETD2 in human acute leukemia.
Nat Genet. 46:287–293. 2014. View Article : Google Scholar : PubMed/NCBI
|
37
|
Parker H, Rose-Zerilli MJ, Larrayoz M,
Clifford R, Edelmann J, Blakemore S, Gibson J, Wang J, Ljungström
V, Wojdacz TK, et al: Genomic disruption of the histone
methyltransferase SETD2 in chronic lymphocytic leukaemia. Leukemia.
30:2179–2186. 2016. View Article : Google Scholar : PubMed/NCBI
|
38
|
Yoshikawa Y, Emi M, Hashimoto-Tamaoki T,
Ohmuraya M, Sato A, Tsujimura T, Hasegawa S, Nakano T, Nasu M,
Pastorino S, et al: High-density array-CGH with targeted NGS unmask
multiple noncontiguous minute deletions on chromosome 3p21 in
mesothelioma. Proc Natl Acad Sci USA. 113:pp. 13432–13437. 2016;
View Article : Google Scholar : PubMed/NCBI
|
39
|
Bueno R, Stawiski EW, Goldstein LD,
Durinck S, De Rienzo A, Modrusan Z, Gnad F, Nguyen TT, Jaiswal BS,
Chirieac LR, et al: Comprehensive genomic analysis of malignant
pleural mesothelioma identifies recurrent mutations, gene fusions
and splicing alterations. Nat Genet. 48:407–416. 2016. View Article : Google Scholar : PubMed/NCBI
|
40
|
Roberti A, Dobay MP, Bisig B, Vallois D,
Boéchat C, Lanitis E, Bouchindhomme B, Parrens MC, Bossard C,
Quintanilla-Martinez L, et al: Type II enteropathy-associated
T-cell lymphoma features a unique genomic profile with highly
recurrent SETD2 alterations. Nat Commun. 7:126022016. View Article : Google Scholar : PubMed/NCBI
|
41
|
Barron VA and Lou H: Alternative splicing
of the neurofibromatosis type I pre-mRNA. Biosci Rep. 32:131–138.
2012. View Article : Google Scholar : PubMed/NCBI
|
42
|
Kiuru M and Busam KJ: The NF1 gene in
tumor syndromes and melanoma. Lab Invest. 97:146–157. 2017.
View Article : Google Scholar : PubMed/NCBI
|
43
|
Mahalingam M: NF1 and Neurofibromin:
Emerging players in the genetic landscape of desmoplastic melanoma.
Adv Anat Pathol. 24:1–14. 2017. View Article : Google Scholar : PubMed/NCBI
|
44
|
Ratner N and Miller SJ: A RASopathy gene
commonly mutated in cancer: The neurofibromatosis type 1 tumour
suppressor. Nat Rev Cancer. 15:290–301. 2015. View Article : Google Scholar : PubMed/NCBI
|
45
|
Yap YS, McPherson JR, Ong CK, Rozen SG,
Teh BT, Lee AS and Callen DF: The NF1 gene revisited - from bench
to bedside. Oncotarget. 5:5873–5892. 2014. View Article : Google Scholar : PubMed/NCBI
|
46
|
Larizza L, Gervasini C, Natacci F and Riva
P: Developmental abnormalities and cancer predisposition in
neurofibromatosis type 1. Curr Mol Med. 9:634–653. 2009. View Article : Google Scholar : PubMed/NCBI
|
47
|
Vandenbroucke I, Callens T, De Paepe A and
Messiaen L: Complex splicing pattern generates great diversity in
human NF1 transcripts. BMC Genomics. 3:132002. View Article : Google Scholar : PubMed/NCBI
|
48
|
Schweingruber C, Rufener SC, Zünd D,
Yamashita A and Mühlemann O: Nonsense-mediated mRNA decay -
mechanisms of substrate mRNA recognition and degradation in
mammalian cells. Biochim Biophys Acta. 1829:612–623. 2013.
View Article : Google Scholar : PubMed/NCBI
|