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Modern Pathology : An Official Journal... Oct 2021Fibroma of tendon sheath (FTS) is an uncommon benign myofibroblastic neoplasm that arises in association with tenosynovial tissue. Fusions of the USP6 gene have been...
Fibroma of tendon sheath (FTS) is an uncommon benign myofibroblastic neoplasm that arises in association with tenosynovial tissue. Fusions of the USP6 gene have been recently documented in a proportion of so-called "cellular FTS" but not in "classic FTS". It remains unknown whether FTS can be defined by a USP6 fusion, regardless of cellularity, and what are USP6 fusion-negative "cellular FTS". Furthermore, FTS with low cellularity seems to be frequently confused with desmoplastic fibroblastoma. We performed a comprehensive analysis, including targeted RNA sequencing, of 58 consecutive cases originally diagnosed as FTS (n = 49), desmoplastic fibroblastoma (n = 6), or nodular fasciitis (n = 3); the latter two at the predilection sites for FTS. After review of the original slides, 28 lesions were morphologically classified as FTS (13 "classic" and 15 "cellular") and 23 as desmoplastic fibroblastoma. Among originally diagnosed FTS at the more cellular end of the spectrum, we identified seven lesions that shared many morphologic features of FTS but, in addition, showed several distinct morphologic features consistent with myofibroma, such as myoid appearance, branching thin-walled vessels, and perivascular growth. Targeted RNA sequencing showed a USP6 fusion in 17 of 18 analyzed FTS, regardless of cellularity, 0 of 5 desmoplastic fibroblastomas and 0 of 4 myofibromas. MYH9, COL1A1, and ASPN were identified as fusion partners in three cases each, and MIR22HG, CTNNB1, SPARC, CAP1, EMP1, LINC00152, NR1D1, and RAB1A in a single case each. FTS, regardless of cellularity, can be defined by a USP6 fusion with a variety of fusion partners. More cellular lesions exhibiting some morphologic features of FTS but lacking a USP6 fusion tend to be myofibromas.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Female; Humans; Male; Middle Aged; Myofibroma; Oncogene Fusion; Soft Tissue Neoplasms; Tendons; Young Adult
PubMed: 34088995
DOI: 10.1038/s41379-021-00836-4 -
Journal of the American Academy of... Jun 2021An 18-year-old man presented with a pathological fracture of the right proximal femur. Desmoplastic fibroma was diagnosed through histological studies. Surgical...
An 18-year-old man presented with a pathological fracture of the right proximal femur. Desmoplastic fibroma was diagnosed through histological studies. Surgical management involved extended intralesional curettage and fracture stabilization by open reduction with intramedullary nailing, using a short Gamma nail. At 42-month follow-up, the patient presented no limitations or recurrence. Internal fixation after prior intralesional curettage is a valid treatment strategy for pathological fractures in young patients. A short nail was chosen to prevent direct tumor cell seeding throughout the femur and future recurrence. Fracture consolidation was achieved because of the healing potential of a young patient.
Topics: Adolescent; Femur; Fracture Fixation, Intramedullary; Fracture Healing; Fractures, Spontaneous; Humans; Male; Neoplasm Recurrence, Local
PubMed: 34077396
DOI: 10.5435/JAAOSGlobal-D-21-00055 -
Surgical Case Reports Apr 2021Desmoplastic fibroblastoma is an uncommon, benign, fibrous tumor exhibiting infiltrative growth. Most of these tumors are small, slow-growing, and develop as...
BACKGROUND
Desmoplastic fibroblastoma is an uncommon, benign, fibrous tumor exhibiting infiltrative growth. Most of these tumors are small, slow-growing, and develop as subcutaneous lesions in the extremities. Cases of desmoplastic fibroblastoma in the chest wall are quite rare, and the preoperative diagnosis of such cases remains challenging as these tumors can mimic the characteristics of desmoid-type fibromatosis, which often occurs in the chest wall. We aimed to describe a rare case of desmoplastic fibroblastoma exhibiting rapid growth in the chest wall of a patient that was successfully treated with marginal excision only by diagnostic imaging before surgery.
CASE PRESENTATION
A 79-year-old man was admitted to our hospital after experiencing right shoulder pain lasting for a few months. A 4 × 4 × 2 cm mass was incidentally detected at the right second rib two years prior. Chest computed tomography revealed a well-defined homogeneous mass with a muscle-like density along the right lateral chest wall, the size of which had increased to 12 × 10 × 4.5 cm in two years. Dynamic contrast-enhanced computed tomography revealed abundant vascularity at the periphery of the tumor. Magnetic resonance imaging revealed iso-intensity to muscle on T1-weighted images, slightly high intensity on T2-weighted images, and rim-like contrast enhancement at the periphery of the tumor, with uniform thickness on gadolinium-enhanced T1-weighted images with fat suppression. Rim-like contrast enhancement is an imaging feature that can distinguish cases of desmoplastic fibroblastoma from desmoid-type fibromatosis. We diagnosed the tumor as desmoplastic fibroblastoma by diagnostic imaging without tissue biopsy. Marginal excision with videoscopic assistance was performed through a small incision. The pathological diagnosis was desmoplastic fibroblastoma. The patient's postoperative course was uneventful, and his shoulder pain was relieved after the surgery.
CONCLUSIONS
Desmoplastic fibroblastoma in the chest wall is extremely rare, but should be considered in the differential diagnosis when desmoid-type fibromatosis is clinically suspected. Gadolinium-enhanced magnetic resonance imaging is helpful in confirming the differential diagnosis.
PubMed: 33829348
DOI: 10.1186/s40792-021-01171-1 -
In Vivo (Athens, Greece) 2021Desmoplastic fibroblastoma (also known as collagenous fibroma) is an uncommon benign fibroblastic/myofibroblastic neoplasm that primarily arises in the subcutaneous... (Review)
Review
Desmoplastic fibroblastoma (also known as collagenous fibroma) is an uncommon benign fibroblastic/myofibroblastic neoplasm that primarily arises in the subcutaneous tissue of upper extremity. Magnetic resonance imaging reveals a well-defined mass in intimate association with dense connective tissue and prominent low signal intensity on all pulse sequences. Peripheral and septal enhancement is usually seen after intravenous contrast. Histologically, the lesion is paucicellular and consists of spindle to stellate-shaped cells embedded in a collagenous or myxocollagenous stroma with low vascularity. Diffuse and strong nuclear immunoreactivity for FOS-like antigen 1 seems to be characteristic of desmoplastic fibroblastoma. Cytogenetic studies have demonstrated the presence of 11q12 rearrangements and an identical t(2;11)(q31;q12) translocation. This review provides an updated overview of the clinical, radiological, histological, cytogenetic and molecular genetic features of desmoplastic fibroblastoma and discusses the relationship to fibroma of tendon sheath.
Topics: Fibroma; Fibroma, Desmoplastic; Humans; Magnetic Resonance Imaging; Soft Tissue Neoplasms; Translocation, Genetic
PubMed: 33402451
DOI: 10.21873/invivo.12233 -
Journal of Bone Oncology Feb 2021Desmoplastic fibroma (DF) is an intraosseous counterpart of desmoid-type soft tissue fibromatosis. It is most frequently seen in the jawbones. The clinical and...
Desmoplastic fibroma (DF) is an intraosseous counterpart of desmoid-type soft tissue fibromatosis. It is most frequently seen in the jawbones. The clinical and radiological features of the present cases were nonspecific. The accumulation of beta-catenin in the nuclei of neoplastic cells which is a diagnostic feature of desmoid-type soft tissue fibromatosis could not be detectED in the present DF series. The aim of this study is to report a series of 22 cases of DF involving either mandible or maxilla. A retrospective evaluation of desmoplastic fibroma and beta-catenin, smooth muscle actin, nestin, cyclin D1 immunostaining's patterns. Most of the DF cases expressed only cytoplasmic beta-catenin immunostainings. We suggest that nuclear beta-catenin staining may not be used as a corroborating the diagnosis of DF. Immunohistochemical staining difference of jaw bone desmoplastic fibromas from other soft tissue and bone lesions may be related to the origination of jaw bone from The neural crest. Strong nestin and cyclin D1 positivity in our series supported this. A combined clinical, radiological, and histopathological analysis of the DF cases is essential in the diagnosis and management.
PubMed: 33204607
DOI: 10.1016/j.jbo.2020.100333 -
Neurological Sciences and Neurosurgery 2020Desmoplastic fibromas are rare benign bone tumors occurring primarily in long bones and mandible. In this case report, we present a desmoplastic fibroma originating from...
Desmoplastic fibromas are rare benign bone tumors occurring primarily in long bones and mandible. In this case report, we present a desmoplastic fibroma originating from the left frontal bone. This is an exceptionally rare presentation of this pathology and the associated imaging and pathologic slides are highly educational. We discuss the relevance to the literature and how to manage these patients clinically.
PubMed: 33103158
DOI: 10.47275/2692-093x-108 -
BMC Cancer Sep 2020Fibrosis surrounding cancer cells has been shown to affect cancer cell metastatic behavior. The present study aimed to explore the utility of myxoid stroma as a...
BACKGROUND
Fibrosis surrounding cancer cells has been shown to affect cancer cell metastatic behavior. The present study aimed to explore the utility of myxoid stroma as a predictive factor for postoperative relapse in patients with stage II colon cancer.
METHODS
The present study retrospectively investigated 169 patients who underwent curative surgical resection of stage II colon cancer. The fibrotic stroma was classified according to Ueno's criteria, and the patients were divided into the myxoid (MY) group and the non-MY (NMY) group. We also recorded tumor budding (TB) and investigated the combination of MY and TB for postoperative relapse. Postoperative survival was also explored.
RESULTS
Thirty-two (18.9%) patients had MY. MY was significantly associated with tumor budding (TB) and postoperative relapse (p < 0.001 and p < 0.001, respectively). The 5-year RFS rates in MY group and NMY group were 52.1 and 94.6% (p < 0.0001), and the 5-year OS rates in MY group and NMY group were 74.6 and 93.3% (p = 0.001). Multivariate analysis showed that both MY and TB were significant risk factors for postoperative relapse (p < 0.001 and p = 0.02, respectively), and that only TB was a significant risk factor for OS (p = 0.043). Furthermore, compared with patients with either one of MY or TB, patients with both MY and TB had postoperative relapse more frequently (11.4% vs. 53.8%).
CONCLUSIONS
The present study suggests that MY is a predictive marker for postoperative relapse in patients with stage II colon cancer.
Topics: Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Colonic Neoplasms; Female; Fibroma; Follow-Up Studies; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Neoplasm Staging; Postoperative Complications; Prognosis; Recurrence; Retrospective Studies; Risk Factors; Survival Rate
PubMed: 32883261
DOI: 10.1186/s12885-020-07335-w -
Head and Neck Pathology Jun 2021A patient with an odontogenic fibroma (OF) with the presence of fibroblasts of varying morphology is presented, and the main microscopic differential diagnosis is...
A patient with an odontogenic fibroma (OF) with the presence of fibroblasts of varying morphology is presented, and the main microscopic differential diagnosis is discussed. Case report: a 51-year-old man complained of a swelling in the anterior region of the mandible. The panoramic radiograph showed a radiolucent, well-defined multilocular image, with displacement of the roots of the left mandibular incisors and canine. A cone beam computed tomography examination revealed a hypodense image, with delicate bone spicules inside, divergence of the tooth roots and destruction of the buccal cortical bone. Under the differential diagnosis of a desmoplastic ameloblastoma or a squamous odontogenic tumor, an incisional biopsy was made. Microscopically, deeply collagenized tissue with scarce odontogenic epithelium islands, large fibroblasts of varying morphology and calcified material was observed. A diagnosis of OF was made. Surgical removal was carried out, and the specimen was examined. Identical aspects were found, and the immunohistochemical reaction for pan-cytokeratin was carried out to identify the odontogenic epithelial cells. The definitive diagnosis of OF was confirmed, and we emphasize the importance of the correlation of all characteristics for a definitive diagnosis.
Topics: Fibroblasts; Fibroma; Humans; Male; Mandible; Middle Aged; Odontogenic Tumors
PubMed: 32865727
DOI: 10.1007/s12105-020-01207-2 -
Dental Research Journal 2020Desmoplastic fibroma (DF) is a rare benign but aggressive fibrous lesion with an unknown etiology. It has an affinity for the mandible. DF has a high rate of recurrence...
Desmoplastic fibroma (DF) is a rare benign but aggressive fibrous lesion with an unknown etiology. It has an affinity for the mandible. DF has a high rate of recurrence after surgical resection. In this study, we report the therapeutic management of a recurrence of DF in the lower jaw in a 2-year-old boy. He responded well to second surgical intervention with wide resection and immediate reconstruction with plate. The purpose of this case report is to emphasize the particularity of the case, treatment modalities, and differential diagnosis in DF.
PubMed: 32774802
DOI: No ID Found -
AJR. American Journal of Roentgenology Jul 2020We undertook this study to determine the radiologic features of desmo-plastic fibroblastoma. We reviewed available radiologic images for 29 pathologically confirmed...
We undertook this study to determine the radiologic features of desmo-plastic fibroblastoma. We reviewed available radiologic images for 29 pathologically confirmed desmoplastic fibroblastomas, including images from MRI, radiography, ultrasound (US), and CT. The patient population included 14 women and 15 men (mean age, 60 years; range, 23-96 years). Typically, lesions were oval or lobulated and relatively small (mean, 5.6 cm). In 14 of the 22 cases that included patient histories, lesions had grown slowly, with two eventually causing pain. The remaining eight were discovered incidentally. All lesions involved or were below the deep fascia. Lesions were well-defined and associated with muscle (45%), deep fascia (28%), joint (21%), or tendon (7%). MR images were available in 26 cases; 14 included unenhanced and contrast-enhanced studies. On MRI imaging all lesions were well-defined and adjacent to dense connective tissue. On T1-weighted images, lesions showed varying amounts of low and intermediate signal intensity similar to that of tendon and skeletal muscle, respectively. On fluid-sensitive images, lesions were more heterogeneous, generally showing a wider spectrum of decreased to intermediate signal intensity. On contrast-enhanced MR images, enhancement was characteristically peripheral and septal with patchy areas of homogeneity. In the 10 cases with radiographs, images showed negative findings or a nonmineralized mass. The 10 available ultrasound studies showed mixed echogenicity. In eight patients, unenhanced CT showed lesions having attenuation similar to that of skeletal muscle. Desmoplastic fibroblastoma is an uncommon neoplasm with a relatively characteristic MRI appearance.
Topics: Adult; Aged; Aged, 80 and over; Contrast Media; Diagnosis, Differential; Female; Fibroma, Desmoplastic; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Soft Tissue Neoplasms; Tomography, X-Ray Computed
PubMed: 32406775
DOI: 10.2214/AJR.19.22163