Papillary thyroid carcinoma with desmoid-type fibromatosis or nodular fasciitis-like stroma is an extremely unusual and poorly understood subtype of papillary thyroid cancer. Although prior studies have demonstrated alterations in the Wnt/β-catenin signaling pathway in some of these tumors, controversy still exists regarding the nature of the stromal spindle component. We have studied seven cases of papillary thyroid carcinoma with prominent myofibroblastic stroma, including six men and one woman aged 20-65 years (mean age = 44). All cases displayed areas consistent with conventional papillary thyroid carcinoma embedded in abundant myofibroblastic-like stroma. The myofibroblastic stroma in six cases resembled desmoid-type fibromatosis and in one case it more closely resembled nodular fasciitis. By immunohistochemical staining, the stromal spindle component showed positivity for SMA and low MIB1 proliferation index in all cases, and there was at least patchy strong nuclear positivity for beta-catenin in six/seven cases. Stains for cytokeratin AE1/AE3 and PAX8 were positive in the epithelial elements but negative in the stromal component. Next-generation sequencing was performed on six of seven cases. CTNNB1 gene mutations were identified in six/seven cases. The epithelial component showed BRAF mutations in two cases and an NRAS mutation in one case. The case with fasciitis-like stroma was negative for beta-catenin by sequencing and immunostaining as well as negative for USP6 gene rearrangement. Our findings indicate that papillary thyroid carcinoma with prominent myofibroblastic stroma may represent more than one category of lesions.

Biomedical Center Charles University Faculty of Medicine in Plzen Plzen Czech Republic

Bioptical Laboratory Ltd Plzen Czech Republic

Department of Pathology Beth Israel Deaconess Medical Center and Harvard Medical School Boston MA USA

Department of Pathology Charles University Faculty of Medicine in Plzen Plzen Czech Republic

Department of Pathology Institute of Oncology Ljubljana Ljubljana Slovenia

Department of Pathology The Medical College of Wisconsin Milwaukee WI USA

Institute of Pathology Lausanne University Hospital Lausanne Switzerland

Pathology Unit IRCCS Arcispedale Santa Maria Nuova Reggio Emilia Italy

Mod Pathol. 2021 Nov;34(11):2089-2090. doi: 10.1038/s41379-021-00876-w. PubMed

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