Fibroblastic and myofibroblastic tumors - summary

2024-10-13   David Papke, MD , Paola Dal Cin, PhD 

1.Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA

Classification

Definition

Fibroblastic and myofibroblastic tumors comprise a morphologically diverse and biologically variable group of neoplasms that affect a wide age range. At times these tumors may pose diagnostic challenges due to their overlapping morphology and/or immunophenotype.1 They affect a wide age range, however specific entities tend to occur most frequently in specific demographics such as infants, children, or adults.2,3 Most of these tumor types have recurrent gene fusions or gene mutations/loss: 1) USP6 rearrangements in several morphologically overlapping fibroblastic/ myofibroblastic tumors;4 2) del(13q}/RB1 in several lesions, including benign ones and malignant ones; 3} alterations in receptor tyrosine kinase pathways e.g. ALK, BRAF, EGFR, MET, NTRK1-3, PDGFB, RET, and ROS1.5

Fibroblastic and myofibroblastic tumors Genetic marker(s)
Nodular fasciitis (NOF)The most frequent rearrangment is a cryptic t(17;22)(p13;q13) associated with MYH9::USP6 fusion,6 resulting in increased USP6 expression by promtor-swapping.7
There is an increasing number of new partners implicated in USP6 rearrangements, among them RRBP1, CALU, CTNNB1, MIR22HG, SPARC, THBS2, COL6A2, SERPINH1, COL3A1, THBS2, COL6A, SEC31A, COL1A1, EIF5A and PAFAH1B1.4,4,8,9
PPP6R3::USP6 amplification seen in very rare malignant examples of nodular fasciitis.10,11 CALD1::USP6 fusion was identified in a morphologically malignant example of nodular fasciitis.12
USP6 rearrangement in pediatric cranial fasciitis (scalp and skull) by FISH analysis and NGS.13
Several morphologically overlapping (myo)fibroblastic neoplasms harbour USP6 fusions, and they are almost universally benign and cured by local excision.4,14,15
Proliferative fasciitis (PF) and proliferative myositis (PM}Recurrent genomic abnormality not yet firmly established: trisomy 2 has been identified in a single case each of proliferative fasciitis and proliferative myositis, and t(6;14)(q23;q32) has been reported.16
FOS rearrangement in the epithelioid cells by FISH analysis, and a single case FOS::VIM by NGS.17
FOS rearrangements are also present in osteoid osteoma/osteoblastoma,18 epithelioid hemangioma,19, and other mesenchymal tumor types.20
Myositis ossificants (MO) and fibro-osseous pseudotumor of digits(OPD) USP6 rearrangements with COLA1A, a recurrent gene partner in a subset of cases.21-24 A single case has been reported with ANGPTL2 as the partner gene.25
Ischemic fascitiis A single report with translocations t(1;2)(p36.1;q23) and t(7;19)(q32;q13).26
Elastofibroma Current knowledge on the genetic features of this peculiar condition is mostly limited. Chromosomal alterations have been detected, including gains of chromosome 6 and Xq12-22 and losses of 1p,3q, 19p and 22q.27
Fibrous fibroma of the infancy (FHI) Recurrent EGFR exon 20 insertion/ duplication mutations by targeted NGS and confirmatory Sanger sequencing 28,29
Fibromatosis colli No specific genetic findings so far .
Juvenile hyaline fibromatosis Hyaline fibromatosis syndrome OMIM:228600, autosomal recessive syndrome with ANTXR2 and ANTXR2 homozygous or compound heterozygous mutations.30
Inclusion body fibromatosis No specific genetic findings so far.
Fibroma of the tendon sheath( FTS)USP6 rerrangement with a variety of partners, including PKM, RCC1, ASPN, COL1A1, COL3A1, MYH9 and TNC, mainly in "cellular" FTS,31-33 and, recently, also some of the "classic" FTS.34
Single cases with t(2;11)(q31;q12),35 t(9;11) (p24;q13-14),36 and t(4;10)(p16;q24).37
Desmoplastic fibroblastoma11q12 rearrangemet with t(2;11)(q31;q12) is a recurrent aberration.38 Initally, 11q12 breakpoint was reported adjacent to FOSL1, with FOSL1 overexpression.39 Recently, FOSL1 rearrangement and, less commonly, FOS were identified by WGS, and absent in fibroma of tendon sheath.20
t(2;11) was similarly identified in fibroma of tendon sheath.40
Myofibroblastoma Outside of the breast, mammary-type myofibroblastoma is most commonly located in the inguinal region of male individuals. It harbors consistent del(13q), resulting in loss of Rb expression by immunohistochemistry (IHC).41
Plexiform myofibroblastomaPlexiform myofibroblastoma is a rare superficial mesenchymal tumor predominantly occurs in children and young adults, without recurrent genetic findings so far.42
Calcifying aponeurotic fibroma FN1::EGF gene fusion, corresponding in one index case with ins(1;4)(q25;q25q?), results in FN1 high expressIon.43
Same FN1::EGF fusions in cases diagnosed as lipofibromatosis, another pediatric fibroblastic soft tissue tumor with predilection for hands and feet.44
Translocations involving FN1 gene have been described in several other soft tissue tumor types with chondroid differentiation, including soft tissue chondroma, synovial chondromatosis, calcifying aponeurotic fibroma, phosphaturic mesenchymal tumour and a new spectrum of "calcified chondroid mesenchymal neoplasms".45
EWSR1-SMAD3 positive fibroblastic tumor (ESFT) EWSR1::SMAD3 was detected by NGS in superficial spindle cell lesions, with a marked female predominance, most commonly on acral location (mainly foot).46,47
Angiomyofibroblastoma (AMFB)Rare benign soft-tissue tumor that most frequently affects the lower genital tract of young to middle-aged women. Tumors lack FOXO1 loss at 13q14 by FISH analysis,48 supporting that angiomyofibroblastoma is unrelated to cellular angiofibroma.
Vulvar angiomyofibroblastoma harbors recurrent MTG1::CYP2E1 fusions.49
Cellular angiofibromaBenign tumor type that commonly occurs in the vulvovaginal region in women and the inguinoscrotal region in men. It harbors del(13q)/monosomy 13, monoallelic deletion of RB1 by FISH analysis.50-52 TP53 mutations have been reported in atypical lesions and with sarcomatous transformation.53
Angiofibroma of soft tissuet(5;8)(p15;q13)/AHRR::NCOA2 drives 60-70% of cases,54,55 and similar fusion AHRR::NCOA3 has also been reported.56 EWSR1::GFI1B fusion was detected in 3 cases.57 Isolated cases have reportedly shown GTF2I::NCOA2,58 t(4;5)(q24;q31) associated with TBCK::P4HA2, and t(5;8;17) with complex involvement of AHRR, NCOA2 and ETV4.55
Nuchal-type fibromaThere was an association between the appearance of nuchal-type fibromas and Gardner syndrome,OMIM:175100 and most patients were male, commonly in the 5th decade of life. No specific genetic findings so far.59
Acral fibromyxoma Predilection to subungal and periungal region of the hands or feet. RB1 loss by FISH anaysis and immunohistochemistry.60
Gardner fibroma (GAF)The vast majority occur in young children and are associated with APC germline mutations,61 making Gardner fibroma a sentinel lesion for familial adenomatous polyposis (FAP).OMIM:175100 Patients along with their parent should undergo genetic counseling.62
Palmar/plantar fibromatosis Palmar fibromatosis (Dupuytren disease/contracture) and plantar fibromatosis (Ledderhose disease) lack the CTNNB1 and APC mutations characteristic of desmoid fibromatosis.63
Cytogentically, only single cases were reported, with trisomy 8 and 14, and t(2;7)(p13;p13) in plantar fibromatosis, and trisomies 7 and 8 in Dupuytren contratues .64 Recent molecular data demonstrated that Wnt signalling pathway significantly deregulated in Dupuytern disease.65
Desmoid fibromatosis 80% of tumors show β-catenin overexpression by immunohistochemistry, and most of these harbor sporadic CTNNB1 mutations. Over 99% of CTNNB1 mutations occur in exon 3 phosphorylation sites: T41A, S45P and S45F.66 In some series, S45F mutation seems to be associated with an increased risk of local recurrence.67 Rarely, somatic APC mutations are identifed.68,69
Trisomies 8 and/or 20 have been reported, although their role in pathogenesis is uncertain.70
15% arise in the setting of familial adenomatous polyposis, with germline APC gene mutations. These patients develop one or more desmoid tumors in their lifetime. Mutations in the 5’ of APC (near codon 400) are associated with a significantly better prognosis than mutations to the 3' of APC (near codon 1400).71
Lipofibromatosis (LPF)By RNA-seq, FN1::EGF fusion in most cases; single fusions with EGR1::GRIA1, TPR::ROS1, SPARC::PDGFRB, FN1::TGFA, EGFR::BRAF, VCL::RET, or HBEGF::RBM27.44
Same FN1::EGF fusion seen in calcifying aponeurotic fibroma, but lipofibromatosis lacks its hallmark calcifications.43 FN1 rearrangement has been described in several tumor types.72
LPF-like neural tumor (NT) cases showed NTRK1 rearrangements, with LMNA::NTRK1 being the most common one, less frequently with TPR or TMP3 as gene partners.73,74 NTRK1, NTRK2, and NTRK3 gene fusions are actionable genomic events that are predictive of response to TRK kinase inhibitors.75 LPF-NT lacking NTRK gene fusions instead harbor recurrent RET and ALK rearrangements, particulary in infants and young children.73,76
Cytogenetics have been reported for a single case with t(4;9;6)(q21;q22;q2?4).77
Giant cell fibroblastoma (GCF)A tumor type related to dermatofibrosarcoma protuberans (DFSP), which occurs predominantly in children and harbors t(17;21)(q22;q13)/COL1A1::PDGFB, mainly as the sole aberration in children.78,79
Dermatofibrosarcoma protuberans (DFSP)Unbalanced chromosomal t(17;22)(q21;q13), usually in the form of a supernumerary ring/marker chromosome containg the Chr 22 centromere and at least 1 copy of COL1A1::PDGFB fusion.80 The COL1A1::PDGFB fusion is not detected by FISH in about 8% of DFSPs, such that RNA sequencing can considered to identify cryptic COL1A1::PDGFB fusions.81 Genomic gains of COL1A1::PDGFB are found predominantly in the DFSP component of GCF/DFSP hybrids, rarely the pure GCF, and in fibrosarcomatous transformation. TP53 mutation and p53 or MDM2 overexpression have been reported in the fibrosarcomatous variant of DFSP.82
A single case with COL1A2::PDGFB was reported so far.83 A small number of variant translocations involving regions other than 17q22 and 22q13.1 have been described.84 Recently, alternative fusions involving PDGFD at 11q22.3 have been identified in DFSP negative for PDGFB fusions; PDGFD fusion partners included COL6A3, EMILIN2 and TNC.81,85 COL6A3::PDGFD fusion has an apparent predilection for the trunk of females, including the breast, while those harboring EMILIN2::PDGFD are male-predominant, nearly exclusively subcutaneous, and often fibrosarcomatous.81
The gold standard of DFSP treatment is surgical resection with negative margins or radiation and systemic therapy with tyrosine kinase inhibitors, such as imatinib, with response rates of 50% to 60% in patients with locally advanced or metastatic disease.86
Whole‐genome sequencing (WGS) has revealed additional alterations: several mutations, including in MUC6, MUC4 and BRAC1; additional AKT1 and SPHK1 amplifications; CDKN2A and CDKN2B deletions; and novel gene fusion SLC2A5::BTBD7.87
Solitary fibrous tumor (SFT)SFTs have been reported at almost every anatomic site, and they have a predilection for the pleura. Most occur in adults, although rarely SFT can occur in children.88 NAB2::STAT6 fusion is specific molecular marker resulting from a cryptic paracentric inv(12)(q13q13),89,90 which is difficult to detect by karyotype or FISH analysis.91 STAT6 IHC is a useful surrogate marker for detections.88
Additional alterations in the TERT promoter, as well as aberrent TP53 expression and loss of APAF1 by immunohistochemsitry, were significantly associated with malignancy in SFT.92
Inflammatory myofibroblastic tumor (IMT)IMTs, arising predominally in children ad adolescens, harbor fusions in ALK at 2p23, forming chimeric fusion protein and ALK overexpression that can be detected by several ancillary techinques. Cytoplasmic ALK staining by IHC is observed in up to 60% of IMTs. Numerous ALK fusion partners are now recognized, including TPM3, TPM4, TFG, ATIC, CLTC, MSN, CARS1, SE31L1, NUMA1, and EML4, among others.93,94 Of the various ALK fusion partners, some are associated with specific clinical features. For example , in clinically aggressive "epithelioid" inflammatory myofibroblastic sarcoma (EIMS), the ALK gene partner is mainly RANBP2,95 and rarely RRBP1.96
Among the reported ALK fusion-negative IMTs, other fusion genes involving other different kinases ROS1, PDGFRB, NTRK3, RET and FCGR1A.94,97.However, a recent report demonstrated specific and more aggressive features in PDGFRB-rearranged tumors and proposed that they be designated "myxoid inflammatory myofibroblastic sarcomas". 98
The use of tyrosine kinase inhibitors has shown promising efficacy in IMT patients with targetable genomic alterations.98,99
Low-grade myofibroblastic sarcoma A rare distinct atypical myofibroblastic tumor often with fibromatosis-like features and predilection for the head and neck, especially the oral cavity and larynx. Neither genomic rearrangements nor point mutations of cancer-associated genes have been identified as yet.100
Superficial CD34+ fibroblastic tumour (SCD34FT)Now known to be the same tumor type described has harboring PRDM10 rearragements: t(X;1;11)(q13;p36;q23) associated to MED12::PRDM10, or t(6;11)(q24;q24) associated to CITED2::PRDM10 gene fusion.101 The SCD34FT and PRDM10-rearranged tumors are morphologically indistinguishable and both positive for CADM3, an it is now known that they constitute a single entity, preferably referred to as SCD34FT.102-104
Myxoinflammatory fibroblastic sarcoma (MIFS) Myxoinflammatory fibroblastic sarcoma (MIFS) has recurrent genetic features: 1) t(1;10)(p22;q24), 2) BRAF gene fusions, and/or 3) an amplicon in 3p11-12 including the VGLL3 gene. Balanced or, more often, unbalanced t(1;10)(p22;q24)105, with breakpoints in/near TGFBR3 in 1p22 and OGA in 10q24, has been reported; these events upregulate NPM3 and FGF8, both located close to MIA2 in 1p22, but there is no functional fusion transcript involving these genes because the 2 components are transcribed in opposite directions.106,107 TGFBR3 and OGA rearrangements are seen only in a subset of cases and are much more common in "hybrid" hemosiderotic fibrolipomatous tumor(HFLT)-myxoinflammatory fibroblastic sarcomas than in classical MIFS.107,108
BRAF rearrangements result in an in-frame fusion transcript detectable by RNAseq, they occur in pure MIFS showing classic clinicopathologic features, and they are mutually exclusive to t(1;10). Single partner genes identified so far include TOM1L2,109 ROBO1,110 and ZNF33A.108 MIFS with BRAF abnormalities show a similar histologic spectrum to other MIFS.
In addition, recurrent amplification of the 3p11.1–12.1 region, usually in the form of marker or ring chromosomes including VGLL3, occur whether or not t(1;10) and/or BRAF fusions are present.109 Other recurrent alterations include homozygous loss of CDKN2A and deletions of 3p and 13q.110
Similar genetic events occur in related soft tisue neoplasms hemosiderotic fibrolipomatous tumor (HFLT), hybrid MIFS/HFLT, and pleomorphic hyalinizing angiectatic tumor (PHAT).111,112
Infantile fibrosarcoma (IFS)Cryptic t(12;15)(p13;q26) associated with ETV6::NTRK3 drives 90% of tumors,113 commmonly with concurrent gains of chrs 8, 11, 17 and 20. A rare variant EML4::NTRK3 is present in a minority of the cases,114 a fusion also present in other tumor types.
Small subset of ETV6::NTRK3-negative spindle cell sarcomas resembling IFS morphologically, harbor related fusion kinases including in ALK,115 BRAF, NTRK1, NTRK2 and MET.116
Adult fibrosarcoma In the modern molecular era, most tumors previously classified as adult fibrosarcoma likely can be classified as other, more specific tumor types. Older genetic data should interpreted with caution. Recently, kinase fusions have been detected: NTRK3 fusions in adult bone and soft tissue tumors;117 RET fusions in fibrosarcoma-like neoplasms in adult viscera;118 ETV6::NTRK3 in adult-type fibrosarcoma;119 and NTRK rearrangements in fibrosarcoma-like uterine sarcoma.120
Myxofibrosarcoma (MFS)Myxofibrosarcoma (MFS) is a common histologic subtype of soft tissue sarcoma found in the trunk and extremities. While there are some genomic similarities among MFS, undifferentiated pleomorphic sarcoma (UPS), and leyomyosarcoma,121 MFS does show reproducible genetic differences including a lower mutational burden and distinct methylation profiling clusters.122,123 WGS identified a high number of structural variations (SVs) per tumor, most frequently affecting theTP5 and RB1 loci as bialleelic events. Beside the most frequently affecting tumor suppressors such as TP53, CDKN2A, CDKN2B, RB1, ATRX, and HDLBP; other genetic alterations include MUC17, FLG] and {ZNF780A . Other conceivably actionable driver genes have been reported, including tyrosine kinase alterations.123,124
Low-grade fibromyxoid sarcoma (LGFMS) About 80% show supernumerary ring chromosome with FUS::CREB3L2 associated with a cryptic t(7;16)(q33;p11),125 with gain of 7q and recurrent microdeletions at the breakpoints.125,126
Rare variants instead harbor FUS::CREB3L1 or EWSR1::CREB3L1.127,128
No consistent mutations were identified in LGFMS.129
MUC4 is a highly sensitive marker for the diagnosis of LGFMS.130 Superficial LGFMS may have a better overall prognosis than deep LGFMS.131
Sclerosing epithelioid fibrosarcoma (SEF)The molecular alterations found in SEF are more diverse and complex than initially thought, with overall survival significantly worse than that of LGFMS.132,133 t(16;22)(p11;q12)/FUS::CREB3L1 and EWSR1::CREB3L2 fusions predominate in pure SEF; rare cases with FUS::CREB3L2, FUS::CREM, PAX5::CREB3L1, and EWSR1::CREB3L3 have also been described.129,134,135
Lesions with morphological features of both SEF and LGFMS, known as hybrid SEF/LGFMS, harbor FUS::CREB3L2, and, rarely, fusions involving EWSR1 and/or CREB3L1.132
Recurrent YAP1::KMT2A gene fusions have been reported in a small subset of SEF and hybrid SEF/ LGFMS negative for MUC4 lacking the canonical EWSR1 or FUS fusions.136,137 Rare sarcomas with sclerosing epithelioid fibrosarcoma morphology and containing KMT2A fusions, mainly involving YAP1 or VIM, show a predilection for young adults and an often aggressive course.138,139 There is emerging evidence that these might be better classified separately from SEF.
Recurrent genomic imbalances related to the underlying gene fusions, notably deletions of 11p (CREB3L1) and 22q (EWSR1), can be identified. Copy-neutral LOH or deletions of 11p without CREB3L1 fusions, as well as loss of the maternal copy of 11p, have been reported, as has intragenic deletion of the DMD gene.129,140
No consistent mutations were identified in SEF or hybrid SEF/LGFMS.129

Article Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
1318284312020What's new in fibroblastic tumors?Armstrong SM et al
2306133912018Fibroblastic and myofibroblastic tumors of children: new genetic entities and new ancillary testing.Parham DM et al
3331837312020Pediatric and Infantile Fibroblastic/Myofibroblastic Tumors in the Molecular Era.Davis JL et al
4336083062021Ubiquitin-specific Peptidase 6 (USP6)-associated Fibroblastic/Myofibroblastic Tumors: Evolving Concepts.Nakayama S et al
5322430192020Emerging soft tissue tumors with kinase fusions: An overview of the recent literature with an emphasis on diagnostic criteria.Antonescu CR et al
6218260562011Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion.Erickson-Johnson MR et al
7287528422017USP6 activation in nodular fasciitis by promoter-swapping gene fusions.Patel NR et al
8318805922020Novel EIF5A-USP6 Gene Fusion in Nodular Fasciitis Associated With Unusual Pathologic Features: A Report of a Case and Review of the Literature.Lenz J et al
9331646622021Atg11-mediated activation of Atg1 kinase in fission yeast.Pan ZQ et al
10271132712016PPP6R3-USP6 amplification: Novel oncogenic mechanism in malignant nodular fasciitis.Guo R et al
11315383902019Case of mesenchymal tumor with the PPP6R3-USP6 fusion, possible nodular fasciitis with malignant transformation.Teramura Y et al
12342135752021Morphologically malignant nodular fasciitis with CALD1-USP6 fusion.Papke DJ Jr et al
13356863452022Cranial Fasciitis in Children: Expanding the Spectrum of USP6-Associated Clonal Transient Neoplasms.Malik F et al
14326357812020USP6-Associated Neoplasms: A Rapidly Expanding Family of Lesions.Hiemcke-Jiwa LS et al
15373282562023Unravelling the USP6 gene: an update.Cordier F et al
1693324811997Chromosomal anomalies in a case of proliferative myositis.McComb EN et al
17333185812021Recurrent FOS rearrangement in proliferative fasciitis/proliferative myositis.Makise N et al
18317410492020What's new in bone forming tumours of the skeleton?Franceschini N et al
19349585092022The genetics of vascular tumours: an update.Torrence D et al
20364268242023Recurrent FOSL1 rearrangements in desmoplastic fibroblastoma.De Noon S et al
21296617292018Myositis ossificans - Another condition with USP6 rearrangement, providing evidence of a relationship with nodular fasciitis and aneurysmal bone cyst.Bekers EM et al
22297879302018Fibro-osseous pseudotumor of digits - Expanding the spectrum of clonal transient neoplasms harboring USP6 rearrangement.Flucke U et al
23299804132018COL1A1 is a fusionpartner of USP6 in myositis ossificans - FISH analysis of six cases.Flucke U et al
24309469362019Fibro-osseous pseudotumor of digits and myositis ossificans show consistent COL1A1-USP6 rearrangement: a clinicopathological and genetic study of 27 cases.Švajdler M et al
25321571772020Myositis ossificans-like soft tissue aneurysmal bone cyst: a clinical, radiological, and pathological study of seven cases with COL1A1-USP6 fusion and a novel ANGPTL2-USP6 fusion.Zhang L et al
26294997212018Novel t(1;2)(p36.1;q23) and t(7;19)(q32;q13.3) chromosomal translocations in ischemic fasciitis: expanding the spectrum of pseudosarcomatous lesions with clonal pathogenetic link.Sachak T et al
27339524472021Current Update on the Diagnosis, Management and Pathogenesis of Elastofibroma Dorsi.Nishio J et al
28276315142016EGFR Exon 20 Insertion/Duplication Mutations Characterize Fibrous Hamartoma of Infancy.Park JY et al
29356737252022[Fibrous hamartoma of infancy: a clinicopathological and molecular genetic analysis of 33 cases].Zhang L et al
30301760982018Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.Casas-Alba D et al
31326612962021Characterization of novel USP6 gene rearrangements in a subset of so-called cellular fibroma of tendon sheath.Mantilla JG et al
32340889952021Fibroma of tendon sheath is defined by a USP6 gene fusion-morphologic and molecular reappraisal of the entity.Pižem J et al
33345206962022Cellular Fibroma of Tendon Sheath With Novel TNC-USP6 Gene Fusion Clinically Mimicking Arthritis in a 7-Year-Old Boy.Eisenberg JM et al
34369731972023[Fibroma of tendon sheath: a clinicopathological and genetic analysis of 134 cases].Cui J et al
3596391181998Translocation 2;11 in a fibroma of tendon sheath.Dal Cin P et al
36252021082014Fibroma of tendon sheath with 11q rearrangements.Nishio J et al
37316370742019A Case of 14-Year-Old Male with Fibroma of Tendon Sheath of the Hand with Novel Chromosomal Translocation 4;10.Rubinstein A et al
38334024512021An Update on Clinicopathological, Imaging and Genetic Features of Desmoplastic Fibroblastoma (Collagenous Fibroma).Nakayama S et al
39224110682012FOSL1 as a candidate target gene for 11q12 rearrangements in desmoplastic fibroblastoma.Macchia G et al
40103926301999Collagenous fibroma (desmoplastic fibroblastoma): genetic link with fibroma of tendon sheath?Sciot R et al
4165235391984Synthesis of 1-chloroestradiol.Hylarides MD et al
42326185982020Plexiform Myofibroblastoma: Clinicopathologic Analysis of 36 Cases of a Distinctive Benign Tumor of Soft Tissue Affecting Mainly Children and Young Adults.Papke DJ Jr et al
43266910152016FN1-EGF gene fusions are recurrent in calcifying aponeurotic fibroma.Puls F et al
44303101762019Aberrant receptor tyrosine kinase signaling in lipofibromatosis: a clinicopathological and molecular genetic study of 20 cases.Al-Ibraheemi A et al
45382786092024Calcified Chondroid Mesenchymal Neoplasms.Kao EY et al
46329019822021EWSR1-SMAD3 rearranged fibroblastic tumor: Case series and review.Habeeb O et al
47371567072023Gene fusions in superficial mesenchymal neoplasms: Emerging entities and useful diagnostic adjuncts.Fischer GM et al
48248807112014Vulvovaginal angiomyofibroblastomas: morphologic, immunohistochemical, and fluorescence in situ hybridization analysis for deletion of 13q14 region.Magro G et al
49361775092022Vulvar angiomyofibroblastoma is molecularly defined by recurrent MTG1-CYP2E1 fusions.Boyraz B et al
50177274842007Cellular angiofibroma: another mesenchymal tumour with 13q14 involvement, suggesting a link with spindle cell lipoma and (extra)-mammary myofibroblastoma.Maggiani F et al
51208525912011Cellular angiofibroma: analysis of 25 cases emphasizing its relationship to spindle cell lipoma and mammary-type myofibroblastoma.Flucke U et al
52288876032018Molecular Signature of Tumors with Monoallelic 13q14 Deletion: a Case Series of Spindle Cell Lipoma and Genetically-Related Tumors Demonstrating a Link Between FOXO1 Status and p38 MAPK Pathway.Uehara K et al
53319365982020First Glance of Molecular Profile of Atypical Cellular Angiofibroma/Cellular Angiofibroma with Sarcomatous Transformation by Next Generation Sequencing.Chien YC et al
54223376242012Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes.Jin Y et al
55276339812016Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma.Panagopoulos I et al
56368601892023Clinicopathologic and genetic characterization of angiofibroma of soft tissue: a study of 12 cases including two cases with AHRR::NCOA3 gene fusion.Yamashita K et al
57376800342023Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue.Suurmeijer AJH et al
58232253802013A novel GTF2I/NCOA2 fusion gene emphasizes the role of NCOA2 in soft tissue angiofibroma development.Arbajian E et al
59328717442020Nuchal-type Fibroma: Single-Center Experience and Systematic Literature Review.Kostakis ID et al
60325246512021Acral fibromyxoma with loss of Rb1 by immunohistochemistry and fluorescence in situ hybridization: A diagnostically exploitable marker.Motanagh S et al
61268400782016Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association.Dahl NA et al
62250744652015Identification of previously unrecognized FAP in children with Gardner fibroma.Vieira J et al
63114550022001Superficial fibromatoses are genetically distinct from deep fibromatoses.Montgomery E et al
64342254462021Palmar and plantar fibromatosis: a review.Stewart BD et al
65345732752021Evaluation of WNT Signaling Pathway Gene Variants WNT7B rs6519955, SFRP4 rs17171229 and RSPO2 rs611744 in Patients with Dupuytren's Contracture.Samulėnas G et al
66376783432023Infantile Sinonasal Myxoma Is Clinically and Genetically Distinct From Other Myxomas of the Craniofacial Bones and From Desmoid Fibromatosis.Odintsov I et al
67289618252017An update on the management of sporadic desmoid-type fibromatosis: a European Consensus Initiative between Sarcoma PAtients EuroNet (SPAEN) and European Organization for Research and Treatment of Cancer (EORTC)/Soft Tissue and Bone Sarcoma Group (STBSG).Kasper B et al
68302117982019Current Update on Desmoid Fibromatosis.Ganeshan D et al
69326600362020Desmoid-Type Fibromatosis.Garcia-Ortega DY et al
70202324832010Molecular characterization by array comparative genomic hybridization and DNA sequencing of 194 desmoid tumors.Salas S et al
71257518012015Desmoids and genotype in familial adenomatous polyposis.Church J et al
72351811492022[Soft tissue tumours with FN1 (Fibronectin 1) fusion gene].Bouvier C et al
73272590112016Recurrent NTRK1 Gene Fusions Define a Novel Subset of Locally Aggressive Lipofibromatosis-like Neural Tumors.Agaram NP et al
74322997592020An addition to the evolving spectrum of lipofibromatosis and lipofibromatosis-like neural tumor: Molecular findings in an unusual phenotype aid in accurate classification.Malik F et al
75310755112019Detection of Tumor NTRK Gene Fusions to Identify Patients Who May Benefit from Tyrosine Kinase (TRK) Inhibitor Therapy.Hsiao SJ et al
76312198202019Spindle Cell Tumors With RET Gene Fusions Exhibit a Morphologic Spectrum Akin to Tumors With NTRK Gene Fusions.Antonescu CR et al
77180364012007Chromosomal rearrangements in lipofibromatosis.Kenney B et al
7888247281996Cytogenetic and immunohistochemical evidence that giant cell fibroblastoma is related to dermatofibrosarcoma protuberans.Dal Cin P et al
7989881771997Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.Simon MP et al
80359526942022Dermatofibrosarcoma Protuberans: What Is This?Vitiello GA et al
81350340382022Molecular Characterization of Dermatofibrosarcoma Protuberans: The Clinicopathologic Significance of Uncommon Fusion Gene Rearrangements and Their Diagnostic Importance in the Exclusively Subcutaneous and Circumscribed Lesions.Lee PH et al
82325169212020Dermatofibrosarcoma Protuberans: Update on the Diagnosis and Treatment.Hao X et al
83263325102015A Novel Chromosomal Translocation Associated With COL1A2-PDGFB Gene Fusion in Dermatofibrosarcoma Protuberans: PDGF Expression as a New Diagnostic Tool.Nakamura I et al
84182537482008Complex t(5;8) involving the CSPG2 and PTK2B genes in a case of dermatofibrosarcoma protuberans without the COL1A1-PDGFB fusion.Bianchini L et al
85342567672021Novel TNC-PDGFD fusion in fibrosarcomatous dermatofibrosarcoma protuberans: a case report.Chen Y et al
86361843292023Tyrosine kinase inhibitors versus radiation therapy in unresectable dermatofibrosarcoma protuberans (DFSP): A narrative systematic review.Henry OS et al
87354413652022Genomic alterations of dermatofibrosarcoma protuberans revealed by whole-genome sequencing.Peng C et al
88338792152021The many faces of solitary fibrous tumor; diversity of histological features, differential diagnosis and role of molecular studies and surrogate markers in avoiding misdiagnosis and predicting the behavior.Tariq MU et al
89233139522013Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing.Robinson DR et al
90233139542013Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors.Chmielecki J et al
91237613232013Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor.Mohajeri A et al
92313214772019Molecular changes in solitary fibrous tumor progression.Park HK et al
93352192012022What do we know about inflammatory myofibroblastic tumors? - A systematic review.Siemion K et al
94373949162023Inflammatory myofibroblastic tumors: recent progress and future of targeted therapy.Nakano K et al
95211642972011Epithelioid inflammatory myofibroblastic sarcoma: An aggressive intra-abdominal variant of inflammatory myofibroblastic tumor with nuclear membrane or perinuclear ALK.Mariño-Enríquez A et al
96278741932017ALK oncoproteins in atypical inflammatory myofibroblastic tumours: novel RRBP1-ALK fusions in epithelioid inflammatory myofibroblastic sarcoma.Lee JC et al
97320647352020Gene rearrangements in consecutive series of pediatric inflammatory myofibroblastic tumors.Preobrazhenskaya EV et al
98387171312024Myxoid Inflammatory Myofibroblastic Sarcoma: Clinicopathologic Analysis of 25 Cases of a Distinctive Sarcoma With Deceptively Bland Morphology and Aggressive Clinical Behavior.Papke DJ Jr et al
99342118402021Outstanding Response in a Patient With ROS1-Rearranged Inflammatory Myofibroblastic Tumor of Soft Tissues Treated With Crizotinib: Case Report.Comandini D et al
100301280032018Low-grade myofibroblastic sarcoma arising in the tip of the tongue with intravascular invasion: A case report.Mikami Y et al
10125516881989Guanylate kinase from Saccharomyces cerevisiae. Isolation and characterization, crystallization and preliminary X-ray analysis, amino acid sequence and comparison with adenylate kinases.Berger A et al
102341212192021Superficial CD34-positive fibroblastic tumor and PRDM10-rearranged soft tissue tumor are overlapping entities: a comprehensive study of 20 cases.Perret R et al
103357136422022Superficial CD34-Positive Fibroblastic Tumor: A Clinicopathologic, Immunohistochemical, and Molecular Study of 59 Cases.Anderson WJ et al
104368123812023Recurrent PRDM10 Fusions in Superficial CD34-Positive Fibroblastic Tumors : A Clinicopathologic and Molecular Study of 10 Additional Cases of an Emerging Novel Entity.Zhao M et al
105191993312009Two genetic pathways, t(1;10) and amplification of 3p11-12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions.Hallor KH et al
106217175262011Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor.Antonescu CR et al
107269800362016TGFBR3 and MGEA5 rearrangements are much more common in "hybrid" hemosiderotic fibrolipomatous tumor-myxoinflammatory fibroblastic sarcomas than in classical myxoinflammatory fibroblastic sarcomas: a morphological and fluorescence in situ hybridization study.Zreik RT et al
108325141652020Myxoinflammatory fibroblastic sarcoma: an immunohistochemical and molecular genetic study of 73 cases.Suster D et al
109286926012017Recurrent BRAF Gene Rearrangements in Myxoinflammatory Fibroblastic Sarcomas, but Not Hemosiderotic Fibrolipomatous Tumors.Kao YC et al
110318988512020Deep sequencing of myxoinflammatory fibroblastic sarcoma.Arbajian E et al
111283758672017Hemosiderotic Fibrolipomatous Tumor, Pleomorphic Hyalinizing Angiectatic Tumor, and Myxoinflammatory Fibroblastic Sarcoma: Related or Not?Boland JM et al
112299796122019The t(1;10)(p22;q24) TGFBR3/MGEA5 Translocation in Pleomorphic Hyalinizing Angiectatic Tumor, Myxoinflammatory Fibroblastic Sarcoma, and Hemosiderotic Fibrolipomatous Tumor.Liu H et al
11398233071998ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma.Knezevich SR et al
114290995032018Recurrent EML4-NTRK3 fusions in infantile fibrosarcoma and congenital mesoblastic nephroma suggest a revised testing strategy.Church AJ et al
115348431292022ALK rearrangements in infantile fibrosarcoma-like spindle cell tumours of soft tissue and kidney.Tan SY et al
116363808782022Spindle cell sarcoma with KIAA1549-BRAF resembling infantile fibrosarcoma morphologically: A case report and literature review.Fujikawa T et al
117305208182019Novel NTRK3 Fusions in Fibrosarcomas of Adults.Yamazaki F et al
118364438942023Recurrent RET fusions in fibrosarcoma-like neoplasms in adult viscera: expanding the clinicopathological and genetic spectrum.Zhao M et al
119358563622022A novel ETV6-NTRK3 gene fusion in primary renal fibrosarcoma.Jiang H et al
120318465332020Uterine mesenchymal tumours: recent advances.Momeni-Boroujeni A et al
12129515871987An adenovirus type 5 E1A protein with a single amino acid substitution blocks wild-type E1A transactivation.Glenn GM et al
122206019552010Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.Barretina J et al
123300183802018Integrated genetic and epigenetic analysis of myxofibrosarcoma.Ogura K et al
124287765712017Expanded molecular profiling of myxofibrosarcoma reveals potentially actionable targets.Heitzer E et al
125129608072003Low-grade fibromyxoid sarcoma and hyalinizing spindle cell tumor with giant rosettes share a common t(7;16)(q34;p11) translocation.Reid R et al
126151390012004The chimeric FUS/CREB3l2 gene is specific for low-grade fibromyxoid sarcoma.Panagopoulos I et al
127156408312005Clinicopathologic and molecular genetic characterization of low-grade fibromyxoid sarcoma, and cloning of a novel FUS/CREB3L1 fusion gene.Mertens F et al
128235883682013EWSR1-CREB3L1 gene fusion: a novel alternative molecular aberration of low-grade fibromyxoid sarcoma.Lau PP et al
129289397482017In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets.Arbajian E et al
130214157032011MUC4 is a highly sensitive and specific marker for low-grade fibromyxoid sarcoma.Doyle LA et al
131360742492023Superficial low-grade fibromyxoid sarcoma.Ronen S et al
132252311342015A genetic dichotomy between pure sclerosing epithelioid fibrosarcoma (SEF) and hybrid SEF/low-grade fibromyxoid sarcoma: a pathologic and molecular study of 18 cases.Prieto-Granada C et al
133340480812021Sclerosing epithelioid fibrosarcoma: in-depth review of a genetically heterogeneous tumor.Murshed KA et al
134285690452017A novel EWS-CREB3L3 gene fusion in a mesenteric sclerosing epithelioid fibrosarcoma.Dewaele B et al
135313352882019Sclerosing Epithelioid Fibrosarcoma of the Bone With Rare EWSR1-CREB3L3 Translocation Driving Upregulation of the PI3K/mTOR Signaling Pathway.Shenoy A et al
136315927982020Recurrent YAP1 and KMT2A Gene Rearrangements in a Subset of MUC4-negative Sclerosing Epithelioid Fibrosarcoma.Kao YC et al
137319131562020Recurrent Fusions Between YAP1 and KMT2A in Morphologically Distinct Neoplasms Within the Spectrum of Low-grade Fibromyxoid Sarcoma and Sclerosing Epithelioid Fibrosarcoma.Puls F et al
138324616202020Pan-sarcoma genomic analysis of KMT2A rearrangements reveals distinct subtypes defined by YAP1-KMT2A-YAP1 and VIM-KMT2A fusions.Massoth LR et al
139369596902023VIM::KMT2A-rearranged sarcomas: A report of two new cases confirming an entity with distinct histologic features.Almohsen SS et al
140327694312021Sclerosing Epithelioid Fibrosarcoma: A Distinct Sarcoma With Aggressive Features.Warmke LM et al

Citation

David Papke ; Paola Dal Cin

Fibroblastic and myofibroblastic tumors - summary

Atlas Genet Cytogenet Oncol Haematol. 2024-10-13

Online version: http://atlasgeneticsoncology.org/solid-tumor/209274