Papillary thyroid carcinoma with desmoid-type fibromatosis: A clinical, pathological, and immunohistochemical study of 14 cases

Takada, Nami; Hirokawa, Mitsuyoshi; Ito, Masahiro; Ito, Aki; Suzuki, Ayana; Higuchi, Miyoko; Kuma, Seiji; Hayashi, Toshitetsu; Kishikawa, Masao; Horikawa, Shuichi; Miyauchi, Akira

doi:10.1507/endocrj.ej17-0242

Cited by 22 publications

(26 citation statements)

References 17 publications

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“…In addition, mutation analysis shows BRAF V600E mutation in typical PTC and CTNNB1 mutation in stromal cells 4,16 . The spindle cell component of our case showed features similar to those of previous reports about PTC with DTF 4,17 . However, the epithelial component was typical MTC rather than PTC.…”

Section: Discussionsupporting

confidence: 85%

Case of medullary thyroid carcinoma with desmoid‐type fibromatosis

Cho

2020

Pathology International

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A 36-year-old man was admitted to hospital for a right thyroid nodule incidentally discovered on a chest computed tomography scan for a rib fracture. He had no history of radiation to the head and neck, no known family history of endocrine disease, and no medical or surgical history. A 17 × 10 mm, well-demarcated, multinodular, whitish nodule with neither necrosis nor hemorrhage was found in the right thyroid. Microscopically, the tumor consisted of epithelial cell nests with oval, plasmacytoid or polygonal cells with speckled chromatin, inconspicuous nucleoli and granular cytoplasm. The surrounding stroma showed amyloid deposition and prominent spindle cell proliferation with myxoid substance. Epithelial cell nests showed an immunoreactive pattern for typical medullary thyroid carcinoma (MTC), and the spindle cell stroma showed nuclear expression of beta-catenin. This may be the first report on histopathologic findings of MTC with desmoid-type fibromatosis. Further studies are necessary to discover the clinicopathologic characteristics and pathogenesis of this rare type of tumor. K E Y W O R D Sbeta-catenin, desmoid-type fibromatosis, medullary thyroid carcinoma

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Section: Discussionsupporting

confidence: 85%

Case of medullary thyroid carcinoma with desmoid‐type fibromatosis

Cho

2020

Pathology International

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“…Microscopic and IHC findings of DTF and the stromal areas of PTC-DTF are quite similar [2,7]. They are composed of dense collagenous connective tissue with fibroblastic proliferation.…”

Section: Discussionmentioning

confidence: 82%

Immunohistochemical and Molecular Analyses Focusing on Mesenchymal Cells in Papillary Thyroid Carcinoma with Desmoid-Type Fibromatosis

et al. 2018

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Objective: This study was designed to evaluate the prevalence of CTNNB1 (β-catenin) mutations in cases of papillary thyroid carcinoma with desmoid-type fibromatosis (PTC-DTF) expressing aberrant nuclear and cytoplasmic immunoreactivity for β-catenin. Methods: Eight cases of PTC-DTF were available for this study. Immunohistochemistry for β-catenin and BRAF^V600E was performed. CTNNB1 and BRAFV600E mutations were also evaluated by direct sequencing. Results: For β-catenin, although we could demonstrate aberrant nuclear and cytoplasmic immunoreactivity in DTF components in all cases, suggesting activated Wnt signaling, direct sequencing revealed a missense mutation, c.121A>G (p.T41A), in exon 3 in only one case, and no mutations in exons 3, 4, and 5 in the other cases. In the BRAF^V600E analyses, immunohistochemistry revealed positive staining in the carcinoma cells but not DTF components of all cases. These findings were subsequently validated by direct sequencing. Conclusion: This study suggests the significance of the BRAFV600E mutation and activation of Wnt signaling pathway in the carcinoma cells and DTF components, respectively. We believe that the CTNNB1 mutations are not the major factor behind β-catenin translocation indicating Wnt pathway activation. Further study is required to evaluate whether molecular abnormalities other than the CTNNB1 mutation cause activation of Wnt signaling in DTF components of PTC-DTF.

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“…PTC-DTF may present as a firm enlarging thyroid mass [6,7]. Because the PTC component of these tumors is typically <10–20%, cytology after FNA may be false-negative for malignancy.…”

Section: Discussionmentioning

confidence: 99%

“…In previous reports, cytology ranged from benign [13] to concerning for spindle-cell neoplasms [14,15] or diffuse sclerosing PTC [16,17]. In a recent report of 14 patients with PTC-DTF, cytology was suspicious or positive for cancer in the majority of cases [7]. In our patient, the initial cytology was consistent with a benign nodule and repeat cytology was described as “atypical - a spindle cell lesion cannot be excluded.”…”

Section: Discussionmentioning

confidence: 99%

“…Aberrant nuclear expression of β-catenin in the mesenchymal cells is present in most cases of PTC with fibromatosis-like stroma [6,7]. Because a similar pattern of β-catenin expression is seen in desmoid-type fibromatosis in other tissues [[8], [9], [10], [11]], it was recently proposed that PTC with fibromatosis- or nodular fasciitis-like stroma should be renamed PTC with desmoid-type fibromatosis (PTC-DTF) [6,7].…”

Section: Introductionmentioning

confidence: 99%

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Papillary thyroid cancer with extrathyroidal extension of desmoid-type fibromatosis. A case report of an aggressive presentation of an uncommon pathologic entity

Roth

Barrows

Nishino

et al. 2019

International Journal of Surgery Case Reports

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HighlightsPapillary thyroid cancer with desmoid-type fibromatosis (PTC-DTF) is an uncommon variant of PTC.The stromal component of the tumor may have an aggressive behavior with risk for local recurrence.Management of recurrent desmoid-type fibromatosis on the neck can be challenging.Patients with PTC-DTF need to be monitored carefully after thyroidectomy for local recurrence of the stromal component of the tumor.

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Papillary thyroid carcinoma with desmoid-type fibromatosis: A clinical, pathological, and immunohistochemical study of 14 cases

Cited by 22 publications

References 17 publications

Case of medullary thyroid carcinoma with desmoid‐type fibromatosis

Case of medullary thyroid carcinoma with desmoid‐type fibromatosis

Immunohistochemical and Molecular Analyses Focusing on Mesenchymal Cells in Papillary Thyroid Carcinoma with Desmoid-Type Fibromatosis

Papillary thyroid cancer with extrathyroidal extension of desmoid-type fibromatosis. A case report of an aggressive presentation of an uncommon pathologic entity

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