Fibroblastic and myofibroblastic tumors - summary
2024-10-13 David Papke, MD , Paola Dal Cin, PhD Affiliation1.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 fibroblastoma | 11q12 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 myofibroblastoma | Plexiform 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 angiofibroma | Benign 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 tissue | t(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 fibroma | There 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 |
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Citation
David Papke, MD ; Paola Dal Cin, PhD
Fibroblastic and myofibroblastic tumors - summary
Atlas Genet Cytogenet Oncol Haematol. 2024-10-13
Online version: http://atlasgeneticsoncology.org/solid-tumor/209274/fibroblastic-and-myofibroblastic-tumors-summary
