-
The Journal of Pathology Feb 2023The FOS gene family has been implicated in tumourigenesis across several tumour types, particularly mesenchymal tumours. The rare fibrous tumour desmoplastic...
The FOS gene family has been implicated in tumourigenesis across several tumour types, particularly mesenchymal tumours. The rare fibrous tumour desmoplastic fibroblastoma is characterised by overexpression of FOSL1. However, previous studies using cytogenetic and molecular techniques did not identify an underlying somatic change involving the FOSL1 gene to explain this finding. Prompted by an unusual index case, we report the discovery of a novel FOSL1 rearrangement in desmoplastic fibroblastoma using whole-genome and targeted RNA sequencing. We investigated 15 desmoplastic fibroblastomas and 15 fibromas of tendon sheath using immunohistochemistry, in situ hybridisation and targeted RNA sequencing. Rearrangements in FOSL1 and FOS were identified in 10/15 and 2/15 desmoplastic fibroblastomas respectively, which mirrors the pattern of FOS rearrangements observed in benign bone and vascular tumours. Fibroma of tendon sheath, which shares histological features with desmoplastic fibroblastoma, harboured USP6 rearrangements in 9/15 cases and did not demonstrate rearrangements in any of the four FOS genes. The overall concordance between FOSL1 immunohistochemistry and RNA sequencing results was 90%. These findings illustrate that FOSL1 and FOS rearrangements are a recurrent event in desmoplastic fibroblastoma, establishing this finding as a useful diagnostic adjunct and expanding the spectrum of tumours driven by FOS gene family alterations. © 2022 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
Topics: Humans; Fibroma, Desmoplastic; Fibroma; Gene Rearrangement; In Situ Hybridization; Soft Tissue Neoplasms; Ubiquitin Thiolesterase
PubMed: 36426824
DOI: 10.1002/path.6038 -
Multimedia Manual of Cardiothoracic... Mar 2019Cardiac fibromas are the second most common primary cardiac tumors in childhood. They only rarely present in adults. They are mainly located in the free wall of the... (Review)
Review
Cardiac fibromas are the second most common primary cardiac tumors in childhood. They only rarely present in adults. They are mainly located in the free wall of the ventricles and attached to the interventricular septum. Despite their benign pathology, fibromas in some locations can cause significant complications. This video tutorial illustrates the resection of a septo-apical cardiac fibroma in an asymptomatic 26-year-old woman, diagnosed with transthoracic echocardiography and cardiac magnetic resonance imaging after an abnormal ECG on an occupational medical examination. Surgery was performed through a median sternotomy using cardiopulmonary bypass. A nodular intramyocardial mass was found at the left ventricular apex and resection was carried out. After removing the fibroma, a defect was found at the apex affecting both ventricles. The defects were closed using a direct suture of 4-0 polypropylene "U" stitches reinforced with a Teflon patch to exclude the ventricular cavity. Pathology confirmed the diagnosis of benign cardiac fibroma with tumor-free surgical margins. The patient recovered uneventfully and was discharged on postoperative day 5. The outpatient follow-up cMRI 10 months after surgery showed no signs of tumor recurrence and normal biventricular function.
Topics: Adult; Cardiopulmonary Bypass; Echocardiography; Female; Fibroma; Heart Neoplasms; Heart Ventricles; Humans; Magnetic Resonance Imaging; Sternotomy
PubMed: 30990581
DOI: 10.1510/mmcts.2019.010 -
Archives of Pathology & Laboratory... Aug 2011Superficial acral fibromyxoma is a rare, slow-growing soft tissue tumor, which is commonly located in the periungual and subungual regions of the fingers and toes in... (Review)
Review
Superficial acral fibromyxoma is a rare, slow-growing soft tissue tumor, which is commonly located in the periungual and subungual regions of the fingers and toes in adults. To date, fewer than 50 cases have been reported worldwide. Microscopic examination reveals a moderately circumscribed, nonencapsulated tumor situated in the dermis, which may also extend into the subcutis. The neoplasm consists of a moderately cellular proliferation of stellate and spindle-shaped fibroblast-like cells embedded in a myxocollagenous stroma. Mast cells are easily identified throughout this lesion. Multinucleated stromal cells may also be present, but nuclear atypia and mitotic figures are rare. The tumor shows immunoreactivity for CD34, epithelial membrane antigen, CD99, and less frequently, CD10. Superficial acral fibromyxoma has a benign behavior but may persist or recur if inadequately excised. Therefore, complete excision and close follow-up are advised.
Topics: Antigens, CD34; Biomarkers, Tumor; Diagnosis, Differential; Fibroma; Fingers; Humans; Neoplasms; Soft Tissue Neoplasms; Toes
PubMed: 21810002
DOI: 10.5858/2009-0684-RSR1 -
Anais Brasileiros de Dermatologia 2017
Topics: Aged; Fibroma; Humans; Immunohistochemistry; Male; Skin; Skin Neoplasms; Toes
PubMed: 28954126
DOI: 10.1590/abd1806-4841.20176734 -
Actas Dermo-sifiliograficas Dec 2017
Topics: Aged; Aponeurosis; Biopsy; Calcinosis; Female; Fibroblasts; Fibroma; Forearm; Humans; Neoplasms, Connective Tissue; Subcutaneous Tissue; Ultrasonography
PubMed: 28108007
DOI: 10.1016/j.ad.2016.05.023 -
Canadian Medical Association Journal Feb 1969
Topics: Aged; Back; Collagen; Connective Tissue; Elastic Tissue; Elastin; Female; Fibroma; Humans; Microscopy, Electron
PubMed: 5765405
DOI: No ID Found -
Archives of Pathology & Laboratory... Oct 2016Infantile digital fibroma is a rare benign lesion that usually occurs during the first 2 years of life. It can be multiple, but it is usually a single lesion. If it... (Review)
Review
Infantile digital fibroma is a rare benign lesion that usually occurs during the first 2 years of life. It can be multiple, but it is usually a single lesion. If it grows large enough it can cause joint deformities or interfere with everyday activities. Microscopically, the neoplastic cells usually have inclusion bodies that are best highlighted with a Masson trichrome stain but can often be seen on hematoxylin-eosin staining. Treatment for this entity is usually watchful waiting because of its ability to spontaneously regress, but excision is recommended if the lesion is symptomatic. More recently, fluorouracil or injectable steroids have shown great promise in inducing regression without the complications that accompany surgery.
Topics: Actins; Desmin; Epidermis; Fibroma; Humans; Immunohistochemistry; Infant; Infant, Newborn; Muscle, Smooth; Skin Neoplasms
PubMed: 27684985
DOI: 10.5858/arpa.2015-0492-RS -
Medicine Sep 2021Plexiform fibromyxoma (PF) is a rare mesenchymal neoplasm which can be misdiagnosed as the gastrointestinal stromal tumor. This tumor almost formed a lobulated... (Review)
Review
Plexiform fibromyxoma (PF) is a rare mesenchymal neoplasm which can be misdiagnosed as the gastrointestinal stromal tumor. This tumor almost formed a lobulated intramural/submucosal mass in the gastric antrum and prepyloric area. It was considered as a benign tumor that exhibited no recurrence, metastasis, or tumor-related mortality. In this study, we reported 2 cases of gastric PF. The first case was a PF patient coexisting with gastric adenocarcinoma. The second case occurred in the gastric upper body close to gastric fundus. They underwent distal gastrectomy and laparoscopic partial gastric resection, respectively. Both of them exhibited a plexiform growth pattern in the submucosa, muscularis propria, and subserosal adipose tissues. The nodules were composed of abundant myxoid or fibromyxoid matrix riching in small thin-walled blood vessels and bland-looking spindle cells. The first case partially showed staggered growth pattern of PF and adenocarcinoma. Immunohistochemically, the spindle cells were diffusely immunoreactive for SMA and vimentin, and focally immunoreactive for CD10. It was important to distinguish the PF from other spindle cell tumors involving the stomach.
Topics: Adenocarcinoma; Adult; Diagnosis, Differential; Female; Fibroma; Gastrectomy; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Neoplasms, Multiple Primary; Stomach Neoplasms
PubMed: 34516510
DOI: 10.1097/MD.0000000000027164 -
Canadian Journal of Gastroenterology &... 2019Plexiform fibromyxoma is a rare and newly described gastric mesenchymal tumor with only 121 reported cases in the literature. Our understanding of plexiform fibromyxoma... (Review)
Review
Plexiform fibromyxoma is a rare and newly described gastric mesenchymal tumor with only 121 reported cases in the literature. Our understanding of plexiform fibromyxoma requires updating since the first case has been reported by Takahashi et al. 12 years ago. The present review summarized reported cases in the literature, and both clinical and pathological aspects of plexiform fibromyxoma were comprehensively discussed. Plexiform fibromyxoma usually causes nonspecific or bleeding signs or symptoms, and therefore clinical recognition of the disease is challenging. Plexiform fibromyxoma is of benign nature without any metastasis or recurrence reported, and more conservative surgical treatment should be considered.
Topics: Fibroma; Humans; Stomach Neoplasms
PubMed: 31360694
DOI: 10.1155/2019/3960920 -
Brazilian Journal of Otorhinolaryngology 2008
Topics: Child; Fibroma; Humans; Magnetic Resonance Imaging; Male; Tonsillar Neoplasms
PubMed: 18852996
DOI: 10.1016/s1808-8694(15)30617-0