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Link to original content: http://pubmed.ncbi.nlm.nih.gov/39410565/
Different Shades of Desmoid-Type Fibromatosis (DTF): Detection of Noval Mutations in the Clinicopathologic Analysis of 32 Cases - PubMed Skip to main page content
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. 2024 Sep 28;14(19):2161.
doi: 10.3390/diagnostics14192161.

Different Shades of Desmoid-Type Fibromatosis (DTF): Detection of Noval Mutations in the Clinicopathologic Analysis of 32 Cases

Rana Ajabnoor  1
Affiliations

Different Shades of Desmoid-Type Fibromatosis (DTF): Detection of Noval Mutations in the Clinicopathologic Analysis of 32 Cases

Rana Ajabnoor. Diagnostics (Basel). .

Abstract

Background: Desmoid-type fibromatosis (DTF) is a locally aggressive myofibroblastic/fibroblastic neoplasm with a high risk of local recurrence. It has a variety of histologic features that might confuse diagnosis, especially when detected during core needle biopsy. The Wnt/β-catenin pathway is strongly linked to the pathogenesis of DT fibromatosis.

Method: This study examined 33 desmoid-type fibromatoses (DTFs) from 32 patients, analyzing its clinical characteristics, histologic patterns, occurrence rates, relationship with clinical outcomes, immunohistochemical and molecular findings.

Results: The DTFs exhibit a range of 1 to 7 histologic patterns per tumor, including conventional, hypercellular, myxoid, hyalinized/hypocellular, staghorn/hemangiopericytomatous blood vessels pattern, nodular fasciitis-like, and keloid-like morphology. No substantial association was found between the existence of different histologic patterns and the clinical outcome. All thirty-three (100%) samples of DTF had a variable percentage of cells that were nuclear positive for β-catenin. An NGS analysis detected novel non-CTNNB1 mutations in two DTFs, including BCL10, MPL, and RBM10 gene mutations.

Conclusions: This study reveals a diverse morphology of DTFs that could result in misdiagnosis. Therefore, surgical pathologists must comprehend this thoroughly. Also, the importance of the newly identified non-CTNNB1 gene mutations is still unclear. More research and analyses are needed to completely grasp the clinical implications of these mutations.

Keywords: beta-catenin immunostain; desmoid-type fibromatosis; histologic pattern; non-CTNNB1 gene mutations.

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Conflict of interest statement

The author declares that they have no conflict of interest related to this study.

Figures

Figure 1
Figure 1
Schematic illustration of the study method. DTF, desmoid-type fibromatosis; FAP, familia adenomatous polyposis; H&E, hematoxylin and eosin; IHC, immunohistochemistry; NGS, next-generation sequencing.
Figure 2
Figure 2
Macroscopically, DTF usually presents as a large infiltrative firm lesion with a trabeculated cut surface.
Figure 3
Figure 3
The histologic pattern of desmoid-type fibromatosis. (A,B) The conventional pattern is characterized by the presence of long, sweeping fascicles of thin fibroblasts/myofibroblasts that are uniformly spaced and exhibit minimal or no cell-to-cell contact. (C,D) The hypercellular pattern has a higher cellular density compared with the conventional pattern, accompanied by an increase in nuclear overlaps.
Figure 4
Figure 4
Continued histologic pattern of desmoid-type fibromatosis. (A) The hyalinized/hypocellular pattern is characterized by fibroblasts, and myofibroblasts are sparsely distributed within a heavily hyalinized collagenous background. (B,C) The myxoid pattern is distinguished by a profuse myxoid background including loosely arranged hypocellular regions of spindle cells, resembling cellular myxoma. (D) The keloid-like pattern characterized by the presence of collagenized bands that vary in size and exhibit a bright eosinophilic appearance.
Figure 5
Figure 5
Continued histologic pattern of desmoid-type fibromatosis. (A) Nodular fasciitis-like pattern characterized by loose short fascicles of spindle to stellate cells with an edematous background and extravasated RBCs. (B) Hemangiopericytomatous-like patten characterized by the presence of thin-walled, branched blood vessels with staghorn-shaped vessels. Additional histological features: (C) the presence of lymphoid aggregation, mainly at the periphery of the tumor. (D) Perivascular edema.
Figure 6
Figure 6
Additional histological features of DTF. (A,B) Spindle cells with mild to moderate atypia characterized by nuclear hyperchromasia. (C,D) Two cases showed focal chondromyxoid-like metaplasia.
Figure 7
Figure 7
Immunohistochemistry of DTF. (A) β-catenin shows diffuse nuclear positivity in spindle cells. (B) SMA shows focal positivity in the spindle cells. (C) S100 shows rare positivity in spindle cells. (D) Desmin shows focal positivity in the spindle cells. (E) CD34 is negative in the spindle cells.
Figure 8
Figure 8
A non-CTNNB1 mutation of BCL10 mutation variant c.136del p.(Ile46Tyrfs 24) (Frequency: 5.9% of 1649 NGS reads) causes a disruption in the reading frame, beginning at codon 46.
Figure 9
Figure 9
A non-CTNNB1 mutation of MPL gene mutation variant c.317C>T p.(Pro106Leu) (Frequency: 48.4% of 1544 NGS reads).
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