A Rare Case of Recurrent Intra-abdominal Desmoid-Type Fibromatosis.

Desmoid-type fibromatosis is an uncommon fibroblastic or myofibroblastic tumour arising in deep soft tissues with no metastatic potential. This case report presents a 78-year-old male patient with an incidental finding of desmoid-type fibromatosis of the abdomen with recurrence within two years and required surgical interventions. Primarily, a computed tomography (CT) of the abdomen and pelvis showed an incidental finding of a large soft tissue mass in the right iliac fossa mesentery measuring 11 by 8.5 cm. The patient underwent a successful elective exploratory laparotomy and resection of the mass along with a small bowel. A final pathology revealed the mass to be a primary desmoid of the small bowel. Despite clear resection margins, the patient developed recurrence after 17 months, which was treated with surgical resection. His post-operative course was uneventful. The patient's clinical presentation, management, and diagnosis are discussed in this case report.

Developing lower pole desmoid fibrosis in patient with known case of upper pole renal cell carcinoma after partial nephrectomy.

Desmoid fibromatosis (DF) is an extremely rare tumor, which is locally aggressive in nature with no metastatic potential. Presenting symptoms depend on tumor size, site and progression speed. Most commonly occur sporadically, or associated with familial adenomatous polyposis (FAP). Factors may contribute to develop DF are trauma or surgical incision. In this article, we report a 41-years old male, which had partial upper pole nephrectomy, and developed lower pole desmoid fibrosis proven by histopathology. To our best knowledge, there are no article discussed the 2 different tumors occur in the same kidney at 2 different locations.

Prognostic factors for wellbeing in patients with hyaline fibromatosis syndrome.

BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a congenital disorder characterized by subcutaneous skin nodules, congenital multiple arthrogryposis, gingival hyperplasia, and chronic pain. The intellectual ability of patients with HFS is generally normal. This syndrome arises from variants of ANTXR2. Thus far, about 100 cases have been reported but few of these were reported from Japan. METHODS: This study reports five additional Japanese patients with genetically confirmed HFS, from unrelatd families, and discusses the clinical course and quality of life of these patients. RESULTS: At our last visit the ages of the patients were 3-19 years (the median age was 5 years). All the patients had arthrogryposis, skin nodules, and gingival hyperplasia, and four patients had chronic pain, all of which are distinctive, clinical characteristics of HFS. Four of the patients (80%) had pruritic skin nodules, and three experienced sleep disruptions due to pruritis. The visceral complications are an index of HFS severity. One patient in the present cohort had a mucosal abnormality without any gastrointestinal symptoms. CONCLUSION: Preventive and routine management of pruritis caused by skin nodules should be shared with the patient's family. Even asymptomatic patients might have endoscopic finding, which would be a soft marker that could predict the development of protein losing enteropathy.

Uncommon encounter: Nasopharyngeal desmoid tumor: A case report.

BACKGROUND: Desmoid tumors, also known as aggressive fibromatosis, are rare benign tumors originating from the musculoaponeurotic stroma. While desmoid tumors in the head and neck region are documented, those located in the nasopharynx are exceptionally rare. CASE PRESENTATION: A 26-year-old male presented with a three-year history of left nasal obstruction. A CT scan revealed a mass measuring 5.9 × 4.6 × 3.2 cm occupying the left nasal cavity and nasopharynx, with invasion into the maxillary sinus wall. A biopsy confirmed the presence of a nasopharyngeal desmoid tumor. The patient subsequently underwent endoscopic resection followed by radiotherapy. DISCUSSION: Nasopharyngeal desmoid tumors pose a significant diagnostic challenge due to their rarity. The use of MRI and CT scans is crucial for accurate diagnosis, despite their histologically benign nature. It is important to note that these tumors can mimic malignant lesions, emphasizing the necessity for a thorough and meticulous evaluation during the diagnostic process. CONCLUSION: This case underscores the diagnostic and therapeutic complexities associated with nasopharyngeal desmoid tumors. Increased reporting and documentation of such cases are essential to enhance the understanding and management of this rare condition.

Idiopathic Gingival Fibromatosis: Report of a Rare Case.

The progressive overgrowth of the gingiva is the hallmark of idiopathic gingival fibromatosis (IGF). Excess gingival tissue can obscure the crown of a tooth, resulting in spaces between teeth, displacement, retention of primary or permanent teeth, and difficulties with feeding, speaking, and appearance. The diagnosis and management of inherited gingival fibromatosis are the focus of this case report. A 12-year-old girl was referred from the Department of Orthodontics to Oral Medicine as a result of progressive gingival enlargement, which impeded orthodontic treatment for misaligned lower front teeth. The patient underwent a conservative periodontal treatment regimen that encompassed gingivectomy and debridement. The excised gingival tissues were submitted for histopathological examination. Tissue sections stained with hematoxylin and eosin showed connective tissue with dense bundles of collagen fibers and little inflammation. The patient was reviewed after three months, and advised of orthodontic management for further aesthetic correction. The findings indicated that the oral symptoms of gingival fibromatosis are influenced by the severity of the condition and the age at which it begins. Early intervention helps mitigate potential difficulties for younger individuals.

Surgical Management of Hereditary Gingival Fibromatosis: Case Series.

Hereditary gingival fibromatosis (HGF) is an uncommon genetic condition marked by gradual and progressive overgrowth of fibrous tissue in the gums, which is benign in nature. It is a genetic disorder inherited in an autosomal dominant pattern, known for its considerable genetic diversity. The marginal, attached, and interdental gingivae are affected by this condition. The affected area appears pink, does not bleed easily, and exhibits a firm, fibrotic texture. Additionally, it displays a hard, widespread nodular growth that is smooth to stippled and has little bleeding tendency. Nevertheless, in certain instances, the enlargement may feel so dense and firm that it resembles bone upon palpation. Accordingly, esthetics and functions related to a healthy gingiva is also affected. The choice of treatment modality often depends on factors such as the severity of gingival overgrowth, available resources, and patient-specific considerations. Laser techniques and electrosurgery have emerged as valuable options, providing benefits like reduced discomfort and enhanced precision. However, traditional surgical methods remain highly effective, particularly when advanced technologies are not available. This article reports on three cases of hereditary gingival fibromatosis (HGF) treated with conventional gingivectomy, flap procedures, and resective osseous surgery (osteoplasty and osteotomy). The aim is to support the efficacy of these interventions in addressing patient complaints and preparing the groundwork for managing additional issues, such as speech and mastication difficulties, delayed eruption of permanent teeth, and malocclusion. The surgical treatment led to significant improvements: masticatory function was markedly enhanced, aesthetic outcomes were notably better, and oral hygiene significantly improved. Additionally, the procedures created favorable conditions for future treatments, including orthodontics, implants, or prosthetics, by providing a more manageable and functional oral environment.

Mesenchymal Tumor Management: Integrating Surgical and Non-Surgical Strategies in Different Clinical Scenarios.

Mesenchymal tumors originate from mesenchymal cells and can be either benign or malignant, such as bone, soft tissue, and visceral sarcomas. Surgery is a cornerstone treatment in the management of mesenchymal tumors, often requiring complex procedures performed in high-volume referral centers. However, the COVID-19 pandemic has highlighted this need for alternative non-surgical approaches due to limited access to surgical resources. This review explores the role of non-surgical treatments in different clinical scenarios: for improving surgical outcomes, as a bridge to surgery, as better alternatives to surgery, and for non-curative treatment when surgery is not feasible. We discuss the effectiveness of active surveillance, cryoablation, high-intensity focused ultrasound, and other ablative techniques in managing these tumors. Additionally, we examine the use of tyrosine kinase inhibitors in gastrointestinal stromal tumors and hypofractionated radiotherapy in soft tissue sarcomas. The Sarculator tool is highlighted for its role in stratifying high-risk sarcoma patients and personalizing treatment plans. While surgery remains the mainstay of treatment, integrating advanced non-surgical strategies can enhance therapeutic possibilities and patient care, especially in specific clinical settings with limitations. A multidisciplinary approach in referral centers is vital to determine the optimal treatment course for each patient.

Pediatric Fibromatosis Lacks the Internal Tandem Duplication of EGFR Seen in Congenital Mesoblastic Nephroma.

Classical and mixed congenital mesoblastic nephroma (CMN) are characterized by an internal tandem duplication (ITD) of the EGFR gene, in contrast to cellular CMN that usually harbors an ETV6::NTRK3 gene fusion. This same fusion occurs in infantile fibrosarcoma, and this tumor can be considered as the soft tissue equivalent of cellular CMN. A soft tissue equivalent of classic/mixed CMN remains undefined at the genetic level. Since classical CMN resembles fibromatosis of soft tissue histologically, we asked whether fibromatosis in children might show EGFR ITD. ITD was investigated using the polymerase chain reaction and primers for exons 18 and 25 of the EGFR gene. Seven of the eight cases of classical or mixed CMN were positive by this approach, but none of the five cellular CMNs. Of 11 cases of fibromatosis (six plantar, two digital, and three desmoid), none were positive for EGFR ITD. Within the limits of this small study, we conclude that pediatric fibromatosis is likely not characterized by EGFR ITD. There are isolated reports of pediatric soft tissue tumors that harbor EGFR ITD, but these have the appearance of infantile fibrosarcoma or mixed CMN rather than fibromatosis. We did not find any such cases, since all 14 cases of infantile fibrosarcoma in our study had an ETV6::NTRK3 fusion. The soft tissue tumors with EGFR ITD are not a morphologic match for the low-grade histology of classical CMN. Whether they have a similar favorable biology or behave more like fibrosarcoma with an ETV6::NTRK3 fusion or an alternative fusion involving other kinases remains to be determined.

Circulating Tumor DNA in Patients with Desmoid Fibromatosis during Active Surveillance.

BACKGROUND: Sporadic desmoid fibromatosis (DF) is a rare locally aggressive tumor characterized by mutation in exon 3 of CTNNB1 (T41A, S45F, and S45P). Standard of care is active surveillance (AS), but 30% require treatment. DF clinical course is unpredictable and identification of prognostic markers is needed to tailor strategy. In this prospective study, we investigated the consistency between mutation detected in tumor biopsies with that detected in plasma by digital droplet PCR (ddPCR) and the association between circulating tumor DNA (ctDNA) abundancy with clinical outcome. PATIENTS AND METHODS: A total of 56 patients and 10 healthy donors were included. CTNNB1 mutation status of DF biopsies was determined by Sanger and in case of WT CTNNB1 with NGS. In matched plasma samples at enrollment and during AS at specific timepoints, we evaluated cfDNA quantity and ctDNA. RESULTS: ctDNA levels were measured in 46 patients with CTNNB1 mutation. Detection rate for T41A, S45F and S45P was 68%, 42% and 100%, respectively. S45P variant has been detected in all patients with S45P mutation. Longitudinal assessment of ctDNA during AS in nine patients (four with regression and five with progression as first event according to RECIST) showed a concordance between the event and ctDNA level change in six out of nine patients tested (4/5 with progression and 2/4 with regression). CONCLUSIONS: Results of ctDNA analysis support its potential clinical implementation as diagnostic tool in specific clinical scenarios where biopsy can be challenging. A prospective clinical trial needs to be performed to evaluate the potential role of ctDNA as predictive biomarker.

A rare non-malignant cauliflower vulvar mass in a post-menopausal woman: Case report and insight into vulval fibromatosis.

INTRODUCTION AND IMPORTANCE: Vulvar fibromas are benign tumours that primarily occur in women of reproductive age but very rarely among postmenopausal women. Evidence of its occurrence in Sub-Saharan Africa is scant, with hardly any data among postmenopausal women. CASE PRESENTATION: A 54-year-old multiparous (para 4) Ghanaian female presented at the Gynaecology Outpatient Department of Korle Bu Teaching Hospital, with a three-year history of a painless vulval mass. Her general condition was satisfactory. Vulvar examination revealed a prominent, 20 cm × 15 cm cauliflower-like mass originating from the right labium majus, attached by a 5 cm long and 1 cm thick stalk. There was no inguinal lymphadenopathy. Mass was excised under regional anesthesia and histology confirmed benign vulva fibromatosis. The patient made a satisfactory post-operative recovery. CLINICAL DISCUSSION: This case was managed successfully surgically, and histology confirmed a benign tumour. These benign vulval tumours typically occur in younger premenopausal women, but very rarely after menopause as was in the case of our patient who was 7 years postmenopausal. This further emphasizes the exceptional nature of this pathology. CONCLUSION: Our report adds valuable insight to the limited literature on vulvar fibromatosis, particularly in postmenopausal patients, emphasizing the need for careful diagnostic and management strategies for best patient outcomes.

Initial treatment for surgery-naïve desmoid tumors by high intensity focused ultrasound.

Introduction: Desmoid tumor (DT) is a rare proliferative disease occurring in connective tissues, characterized by high infiltration and recurrence rates. While surgery remains the primary treatment, its recurrence risk is high, and some extra-abdominal desmoid tumors are inoperable due to their locations. Despite attempts with radiotherapy and systemic therapy, the efficacy remains limited. Methods: We used low-power cumulative high-intensity focused ultrasound (HIFU) therapy as an initial treatment for desmoid tumor patients either ineligible or unwilling for surgery. Low-power cumulative HIFU employs slower heat accumulation and diffusion, minimizing damage to surrounding tissues while enhancing efficacy. Results: Fifty-seven non-FAP desmoid tumor patients, previously untreated surgically, underwent low-power cumulative HIFU therapy. Among them, 35 had abdominal wall DT, 20 had extra-abdominal DT, and 2 had intra- abdominal DT, with an 85% median ablation ratio. Abdominal wall DT patients showed significantly better response rates (91.4% vs. 86%) and disease control rates (100% vs. 32%) than that of non-abdominal wall DT patients. Median event- free survival time was not reached after a median follow-up duration of 34 months. Discussion: With its high response rate, durable efficacy, and mild adverse effects, our findings suggest that low-power cumulative HIFU presents a promising novel treatment for desmoid tumors, particularly abdominal wall DT patients.

Setting the international research agenda for sarcomas with patients and carers: results of phase II of the Sarcoma Patient Advocacy Global Network (SPAGN) priority setting partnership.

BACKGROUND: Typically, researchers and clinicians determine the agenda in sarcoma research. However, patient involvement can have a meaningful impact on research. Therefore, the Patient-Powered Research Network (PPRN) of the Sarcoma Patient Advocacy Global Network (SPAGN) set up a Priority Setting Partnership (PSP). The primary objective of this partnership is to identify priorities for research and patient advocacy topics. METHODS: In the first phase of this PSP, including 264 sarcoma patients and carers from all over the world, 23 research topics regarding sarcomas and 15 patient advocacy topics were identified using an online survey. In the second phase, participants were asked to fill in a top five and a top three of research and patient advocacy topics, respectively. Additionally, sociodemographic characteristics and sarcoma characteristics were collected. Social media channels, local national patient advocacy groups and the SPAGN website were used to distribute the survey. RESULTS: In total, 671 patients (75%) and carers (25%) participated in this survey. The five highest ranked research topics were related to causes of sarcoma (43%), prognosis and risk of recurrence (40%), specific subtypes of sarcoma (33%), the role of immunotherapy, targeted therapy and combined therapy (30%), and hereditary aspects (30%). The three highest ranked patient advocacy topics were improving the diagnostic process of sarcoma (39%), access to tumor DNA analysis (37%) and establishing an international sarcoma registry (37%). CONCLUSIONS: This sarcoma PSP has identified priorities for research and patient advocacy, offering guidance for researchers, assisting funding agencies with assessing project relevance and empowering patient advocates to represent the needs of patients and carers.

Transarterial doxorubicin-eluting beads embolization for the treatment of desmoid fibromatosis in the pubic region.

Desmoid fibromatosis (DFs) is rare, low-grade neoplasm. Although it poses no risk of metastasis, DFs exhibits a range of clinical manifestations characterized by local infiltrative growth tendencies and a propensity for recurrence. Despite its nonmalignant nature, DFs can be highly debilitating and occasionally life-threatening, causing severe pain and functional limitations. Traditionally, surgery served as the conventional primary treatment approach; nevertheless, a recent shift in paradigm towards a more conservative management has emerged, accompanied by efforts to standardize the strategy among clinicians. Systemic doxorubicin has been demonstrated to be effective in treating DFs; however, it carries potential risks of adverse effects on the cardiovascular, digestive, and hematologic systems. The novel intravascular intervention employing drug-eluting beads loaded with doxorubicin represents an effective treatment for DFs, optimizing drug delivery to the target lesion and reducing systemic toxicity. In this article, we present a rare case of DFs in the right pubic region treated with transarterial doxorubicin-eluting beads embolization.

Aggressive fibromatosis of the sigmoid colon: A case report.

BACKGROUND: Aggressive fibromatosis (AF), also known as desmoid tumor or desmoid-type fibromatosis, is a rare soft tissue neoplasm that can occur in almost any part of the body. Although it is a benign disease, AF is aggressive and infiltrative and has a high recurrence rate after surgery. Common sites for intra-abdominal AF are the small bowel mesentery, retroperitoneum, and pelvis. AF in the colon is extremely rare. CASE SUMMARY: Here, we report the first case of sigmoid colon AF, which was accidentally discovered in a 27-year-old woman during laparoscopic myomectomy. Computed tomography confirmed a slightly enhanced mass in the sigmoid colon. Subsequent colonoscopy did not reveal a mass in the colonic lumen, but a suspected external compress was found in the sigmoid colon. Surgical disease involving a gastrointestinal stromal tumor was suspected. The patient underwent laparoscopic exploration, and sigmoidectomy with a negative margin was performed to excise the mass. Postoperative immunohistochemistry revealed that the mass was an AF. The patient recovered well and was recurrence-free at the 30-month follow-up without adjuvant therapy. CONCLUSION: AF should be considered in the differential diagnosis of subepithelial colon masses. Radical resection alone can achieve good outcomes.

Radial Nerve Palsy Caused by Desmoid-Type Fibromatosis: A Case Report and Review of the Literature.

Radial nerve palsy (RNP) is classified as traumatic, non-traumatic, or iatrogenic. The most frequent etiologic agent is the fracture of the humerus of the shaftand distal. We experienced a case of RNP caused by desmoid-type fibromatosis around the radial nerve. The RNP caused by desmoid-type fibromatosis has not been reported in the literature. We present this case here with a review of the RNP literature. The patient is a 16-year-old female, right-hand dominant, who became aware of the difficulty in extending her right little finger without any triggers five months ago. She was also aware of the difficulty in extending the ring finger, and her symptoms gradually worsened. She was referred to our hospital after consulting a home doctor. MRI of the elbow showed a high-intensity occupying lesion on T2-weighted images (T2WI) slightly proximal to the elbow joint. Ultrasonography (US) showed a partial nerve constriction and radial nerve enlargement on the distal side of the constriction. The approach was made from the posterior lateral side of the distal upper arm, and the radial nerve was exposed. There was a 1 cm white tissue strongly adherent on the radial nerve, which was compressing the radial nerve, and it was resected piece by piece. After the resection, the radial nerve was indented. The pathological diagnosis of the resected tissue was fibromatosis. Gradually, she was able to extend her fingers after the surgery and recovered completely in six months.

Idiopathic Gingival Enlargement: A Case Report.

Gingival enlargement (GE) is an increase in the size of the gingiva. It may be due to inflammation caused by extensive plaque accumulation, intake of drugs, systemic conditions like pregnancy and puberty, systemic diseases such as leukemia or Wegener's granulomatosis, hereditary gingival fibromatosis, and neoplastic or false enlargement. Idiopathic GE is the massive increase in the size of the gingiva with an unknown etiology. It may have a hereditary basis, be linked to physical impairment, or begin with eruption of primary or permanent dentition. It is also referred as gingivomatosis, hereditary gingival fibromatosis, elephantiasis gingivae, gigantism of the gingiva, or congenital macrogingivae. The enlarged gingiva compromises oral hygiene maintenance, which secondarily adds to the inflammatory component of enlargement. Altogether, this exaggerates the existing condition. This type of extensively disfigured gingiva affects speech, mastication, and esthetics, causes halitosis, and disturbs the overall well-being of the individual. Surgical removal of the enlarged gingiva along with meticulous non-surgical means of plaque control is expected to provide a satisfactory functional and esthetic outcome. This case report presents a rare case of long-standing massive grade III GE extending up to the occlusal level in a 17-year-old systemically healthy, non-syndromic young female involving both arches, thereby posing a diagnostic dilemma. It was treated by gingivectomy using a conventional technique to facilitate precise incision, lower cost, and faster re-epithelialization. This was followed by gingivoplasty using electrocautery. The postoperative results of three months were satisfactory in terms of function and esthetics with uneventful healing. Further follow-up is ongoing for the same.

Clinical and genetic evaluations of Zimmermann-Laband syndrome with gingival fibromatosis: a rare case report.

Zimmermann-Laband Syndrome (ZLS; MIM 135500) is a rare genetic disorder with the main clinical manifestations of gingival fibromatosis and finger/toe nail hypoplasia. KCNH1 (potassium channel, voltage-gated, subfamily H, member-1), KCNN3 (potassium channel, voltage-gated, subfamily H, member-3) and ATP6V1B2 (ATPase H+ transporting V1 subunit B2) genes are considered causative genes for ZLS. However, there are limited reports about the diverse clinical presentation and genetic heterogeneity. Reporting more information on phenotype-genotype correlation and the treatment of ZLS is necessary. This case reported a 2-year-old patient with gingival enlargement that failure of eruption of the deciduous teeth and severe hypoplasia of nails. Based on a systemic examination and a review of the relevant literature, we made an initial clinical diagnosis of ZLS. A novel pathogenic variant in the KCNH1 gene was identified using whole-exome sequencing to substantiate our preliminary diagnosis. The histopathological results were consistent with gingival fibromatosis. Gingivectomy and gingivoplasty were performed under general anesthesia. After surgery, the gingival appearance improved significantly, and the masticatory function of the teeth was restored. After 2-year follow-up, the gingival showed slightly hyperplasia. Systemic examination and gene sequencing firstly contribute to provide information for an early diagnosis for ZLS, then timely removal of the hyperplastic gingival facilitates the establishment of a normal occlusal relationship and improves oral aesthetics.

The variable histogenesis and biology of selected bland fibroblastic lesions of the breast - pitfalls in the differential diagnostics and optimal therapeutic approach (three case reports).

Presented are three casuistics of seemingly identical breast lesions which even by adopting advanced laboratory techniques may represent diagnostic challenge. Microscopic features of some bland spindle cell lesions of different histogenesis (epithelial or mesenchymal) are misleading and a potential source of unaware errors, which might affect optimal therapeutic strategy. In the setting of three diverse entities (low-grade spindle cell metaplastic carcinoma, desmoid fibromatosis and phyllodes tumor) is documented both demanding diagnostic algorithm and revealing molecular landscape on one side as well as evolving predictive/prognostic parameters on the other one. Close interdisciplinary cooperation is inevitable for accurate interpretation/understanding of revealed diagnostic facts which is required for adjustment of competent rational and individualized therapy.

Ledderhose's Disease.

Ledderhose disease, also known as plantar fibromatosis, is a rare fibroproliferative disorder characterized by the development of fibrous nodules within the plantar fascia of the foot. These nodules cause discomfort, pain, and impaired mobility, particularly during activities like walking, and are often associated with other fibromatoses, such as Dupuytren's disease. In this case, a 60-year-old woman presented with significant plantar pain exacerbated by walking, along with swelling in the arch of her foot. The diagnosis involved a clinical examination that revealed nodules and tenderness in the plantar fascia, and ultrasound imaging confirmed the presence of fibrotic tissue. Due to the patient's preference for non-surgical management, a conservative approach was adopted. This included the use of medications, orthotic devices, and physical therapy. This case underscores the effectiveness of non-surgical interventions in managing Ledderhose disease, highlighting the importance of personalized treatment plans tailored to patient preferences.