Search Results (7)

Background: Nodular fasciitis is a benign, singularly occurring nodular fibroblastic/myofibroblastic neoplasia. Due to the rapid growth and cellular atypia, this rare differential diagnosis in the head and neck region can be mistaken for malignant sarcomas. Methods: We present a 40-year-old female patient with an unclear, rough, and poorly displaceable supraclavicular swelling on the right as part of a medical check-up. Sonographically, the lump was poorly circumscribed with little vascularization. A consecutive core needle biopsy of the lesion yielded inconclusive results showing spindle-shaped tumor cells. ⁶⁸Ga-FAPI-PET/CT showed an intensive uptake of the right supraclavicular lesion in addition to postoperative changes in the right tonsil. Subsequent operative partial excision of the lesion confirmed the histopathological diagnosis of nodular fasciitis. Results: Nodular fasciitis is the most prevalent pseudosarcoma found in soft tissues. This case is the first description of ⁶⁸Ga-FAPI-PET/CT in nodular fasciitis. Surgical removal is advised; nevertheless, the tumor frequently diminishes on its own, and recurrence is rare. Extensive surgical therapy is not necessary. Conlcusions: The recognition of nodular fasciitis and its benign characteristics is crucial to prevent diagnostic errors and the subsequent unnecessary operative treatment of the patient. Full article

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. Full article

We report a [¹⁸F]fluorodeoxyglucose positron emission tomography/computed tomography ([¹⁸F]FDG PET/CT) scan of a 17-year-old male presenting increased focal glucose metabolism of a histologically proven solitary nodular fasciitis mimicking an extranodal manifestation of Hodgkin lymphoma. This interesting image should draw attention to considering nodular fasciitis as a possible pitfall in the staging of malignant diseases. Full article

Nodular fasciitis (NF) is a benign fibroblastic and myofibroblastic proliferation of subcutaneous tissues. Rarely, it has been identified in the ear and more rarely in children. We describe a case in a four-year-old girl and the surgical management of it. The patient was referred to the otolaryngology unit of a tertiary referral center because she was affected by a painless and growing lesion in the left external auditory canal (EAC). The girl was treated by large-spectrum antibiotic therapy for one week without success. For this reason, we requested ultrasonography (US) of the left hemiface, maxillofacial and temporal bone computed tomography (CT) and magnetic resonance imaging (MRI) of the head with and without contrast. The imaging identified an irregular ovoid hypoechoic nodule with distinct margins indissociable from the cartilaginous planes and extending into the parotid loggia with local infiltration of the fascia. The lesion was surgically removed through preauricular access due its extension into the parotid area. The mass was excised in toto and sent to the pathologist for immunohistochemistry. The histopathologist based on the finding diagnosed a nodular fasciitis. In case of suspicion of malignancy, early investigations should be done to evaluate the lesion, then a traditional parotidectomy can be safely and successfully performed even in a very young child. The open technique allows the removal of NF with full control of the surgical area and facial nerve. In this article, we presented the management of a case in a 4-year-old female affected by NF of the external auditory canal (EAC), and we described clinical and surgical management of the case. We also reviewed literature of nodular fasciitis cases of ears in children. Full article

Subungual exostosis (SE) is a well-recognised benign proliferation of the distal phalanx most often seen in young adults and affecting the big toe. Possible triggers include previous trauma and chronic irritation or infection. We describe two atypical cases of SE in two young women presenting with pyogenic granuloma-like lesions clinically. Diagnostic biopsies were performed to confirm the diagnosis and excluded amelanotic melanoma. However, histology unexpectedly revealed reactive myofibroblastic proliferations mimicking nodular fasciitis overlying the SE. Given the atypical clinical presentation, the diagnosis was initially missed or not considered in both patients. They highlight two important points; the first is that SEs may present with pyogenic granuloma-like lesions clinically and that histological analysis is then required to exclude malignancy, particularly amelanotic melanoma. Secondly, that the histology will show a reactive myofibroblastic proliferation and if the sample is relatively superficial and pathologists are not aware of this potential reaction pattern, the underlying diagnosis of SE may be missed. Full article

Desmoid-type fibromatosis (DTF) is a very rare variant of papillary thyroid carcinoma (PTC). It is essentially a dual tumor with a component of classical PTC with malignant epithelial proliferation (BRAF-mutated) and another component of mesenchymal proliferation (CTNNB1-mutated). We conducted a literature review on PTC-DTF. In total, 31 articles were identified, that together reported on 54 patients. The mean age was 47 years, with a 2.2:1 female predominance. No ultrasound features were found to be helpful in differentiating PTC-DTF from other PTC variants. Of the 43 cases that reported histological details, 60% had locally infiltrative disease (T3b or T4). Around 48% had cervical lymph node metastases, but none had distant metastases. While PTC-DTF may be locally more aggressive than classic PTC, its overall behavior is similar and can include extrathyroidal extension and lymph node metastases, which may contain a stromal component and show extranodal invasion. The mainstay of treatment for PTC-DTF is surgery, and the DTF component is not expected to be sensitive to radioactive iodine. External radiotherapy, non-steroidal anti-inflammatory drugs, tyrosine kinase inhibitors and chemotherapy have also been used in selected cases. Due to the rarity of these tumors and the lack of specific treatment guidelines, management should be discussed in a multidisciplinary team. Full article

Purpose: to investigate the immunohistochemical expression and distribution of Wilms’ tumor 1 (WT1) (transcription factor produced by the tumor suppressor gene of the same name) in a series of 114 cases of bland-looking mesenchymal spindle cell lesions of the dermis/subcutaneous tissues to establish whether this immunomarker is differentially expressed in dermatofibrosarcoma protuberans (DFSP) versus its potential morphological mimickers. Methods: This retrospective multi-centric immunohistochemical study included 57 DFSP cases, 15 dermatofibromas, 5 deep fibrous histiocytomas, 8 neurofibromas, 5 spindle cell lipomas, 8 dermal scars, 6 nodular fasciitis, 5 cutaneous leiomyomas and 5 solitary fibrous tumors. Among the 57 DFSP cases, 11 were recurrent lesions; 2 non-recurrent cases exhibited an additional “fibrosarcomatous” overgrowth and 1 recurrent and 2 primary tumors contained a minority of “giant cell fibroblastoma” components. Results: Most DFSP (95% of cases) exhibited cytoplasmic staining for WT1; 11/11 residual/recurrent tumors showed diffuse and strong WT1 cytoplasmic immunoreactivity; apart from neurofibromas, WT1 expression was lacking in all the other cases studied. Conclusions: The cytoplasmic expression of WT1 may be exploitable as a complementary diagnostic immunomarker to CD34 in confirming the diagnosis of DFSP and to better evaluate the residual/recurrent tumor component. Full article