Desmoid fibromatosis in the foot

Liu, Qinqin; Lü, Fang; Li, Bo

doi:10.1097/md.0000000000013109

Cited by 4 publications

(3 citation statements)

References 25 publications

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“…Sporadic fibromatosis accounts for 90% and the rest 10% are familial. [ 1 2 ] There is a proliferation of well-differentiated mesenchymal fibroblasts in familial cases. Basu et al .…”

Section: Discussionmentioning

confidence: 99%

Fibromatosis with aggressive demeanor: Benign impersonator of malignancy

et al. 2021

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Fibromatosis or desmoid fibromatosis is a rare benign neoplasm and develops commonly in the abdominal wall, abdominal cavity, or extra-abdominal sites. The mainstay of treatment is surgery. Chemotherapy and radiotherapy are preferred in cases of inoperable/relapse or a multifocal disease. Hereby, we report a case of fibromatosis arising in the left popliteal fossa, proven by histopathology and immunohistochemistry. Local excision of the mass was performed. The patient was asymptomatic for 6 months, after which she complained of difficulty in walking. Clinical evaluation elicited recurrence in the surgical bed. In spite of the surgical excision with tumor-free margins, recurrence was seen within a span of 6 months. 18 F-fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET/CT) was done to rule out multifocal disease and to define the extent of relapse. Although magnetic resonance imaging provides an excellent soft-tissue resolution to delineate the disease, 18 F-FDG PET/CT is an important and supplementary tool which aids in the management of fibromatosis.

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“…Sporadic fibromatosis accounts for 90% and the rest 10% are familial. [ 1 2 ] There is a proliferation of well-differentiated mesenchymal fibroblasts in familial cases. Basu et al .…”

Section: Discussionmentioning

confidence: 99%

Fibromatosis with aggressive demeanor: Benign impersonator of malignancy

et al. 2021

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“…In addition to the conventional WHO-approved names, these entities are also known as superficial (fascial) and deep (musculoaponeurotic or deep fascial) fibromatosis [ 1 ]. Although desmoid-type fibromatosis has been described in the foot [ 4 ], the WHO tumours of soft tissue and bone texts [ 2 , 3 ] do not consider these regions as possible location of desmoid fibromatosis. An anatomical basis for the existence of both variants of fibromatosis exists, as long as there is actually a superficial and a deep fascia in the foot, frequently fused [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Pacinian Corpuscles as a Diagnostic Clue of Ledderhose Disease—A Case Report and Mapping of Pacinian Corpuscles of the Sole

et al. 2022

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Background: Plantar fibromatosis, known as Ledderhose disease, is a neoplastic disease characterized by a locally-aggressive bland fibroblastic proliferation. Although Pacinian corpuscles alterations are commonly described in palmar fibromatosis, there are still no references about Pacinian corpuscles alterations in the rarer plantar version. Methods: We present a case report where a wide cutaneous resection, including the plantar fascia was performed, allowing a detailed study of Pacinian corpuscles. Pacinian corpuscles were analyzed using immunohistochemistry for neurofilament proteins, S100 protein, CD34, vimentin, glucose transporter 1, epithelial membrane antigen, neural-cell adhesion molecule, actin, desmin, type IV collagen, and high-affinity neurotrophin Trk-receptors. Moreover, the density and the size of the corpuscles were determined. Results: A clear increase in the number (hyperplasia) of Pacinian corpuscles was evidenced in the Ledderhose disease plantar fascia in comparison with similarly aged normal subjects. Pacinian hypertrophy was not demonstrated, but a significant decrease in the number of corpuscular lamellae was noted, with a subsequent increase in the interlamellar spaces. Pacinian corpuscles from the pathological plantar fascia showed an abnormal structure and immunohistochemical profile, generally without identifiable axons, and also absence of an inner core or an intermediate layer. Moreover, other molecules related with trophic maintenance of corpuscles were also absent. Finally, a vascular proliferation was commonly noted in some corpuscles, which involved all corpuscular constituents. Conclusion: The observed Pacinian corpuscles hyperplasia could be considered a diagnostic clue of plantar fibromatosis.

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“…Smooth-muscle actin (SMA) is usually expressed in DF, but is an unspecific marker and is not expressed in all cases of DF [ 12 , 14 , 15 ]. In diagnostic practice, it is hard to interpret subcellular β-catenin expression in the biopsied specimens or in small-sized tissues because tumour cells stain variably for β-catenin.…”

Section: Introductionmentioning

confidence: 99%

Clinicopathological features of 70 desmoid-type fibromatoses confirmed by β-catenin immunohistochemical staining and CTNNB1 mutation analysis

Woo

Lee

et al. 2021

PLoS ONE

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Desmoid-type fibromatosis (DF) is a locally aggressive neoplasm characterized by mutations in the CTNNB1 gene, which encodes the β-catenin protein. We reviewed 85 cases of DF and performed Sanger sequencing for detecting mutations in CTNNB1 and immunostaining for detecting β-catenin localization. We included 70 DF samples, of which 56 cases demonstrated nuclear β-catenin localization and 43 cases harboured CTNNB1 mutations. CTNNB1-mutant DF samples consistently displayed nuclear β-catenin expression and were derived from larger-sized tumours compared to samples with wild-type CTNNB1. When we further classified DF cases into 2 subgroups based on the type of specimen, excised specimens with nuclear β-catenin expression frequently displayed CTNNB1 mutation and no statistical correlation between nuclear β-catenin expression and CTNNB1 mutation was observed in biopsies. When we classified CTNNB1 mutation cases into 2 subgroups (DF with T41A or T41I, and DF with S45F or S45P), T41A or T41I mutations were observed more frequently in males than in females. Additionally, DF tumours harbouring S45F or S45P mutations were located more frequently in the abdominal wall than tumours with T41A or T41I mutations. In conclusion, CTNNB1 mutation correlates with nuclear β-catenin expression in larger or excised DF tumours, and DF harbouring CTNNB1 mutations manifest variable clinical presentations.

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Desmoid fibromatosis in the foot

Cited by 4 publications

References 25 publications

Fibromatosis with aggressive demeanor: Benign impersonator of malignancy

Fibromatosis with aggressive demeanor: Benign impersonator of malignancy

Pacinian Corpuscles as a Diagnostic Clue of Ledderhose Disease—A Case Report and Mapping of Pacinian Corpuscles of the Sole

Clinicopathological features of 70 desmoid-type fibromatoses confirmed by β-catenin immunohistochemical staining and CTNNB1 mutation analysis

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