A 31-year-old Indian female with a history of near-total thyroidectomy 2.5-years prior presented with recurrent neck swelling. Magnetic resonance imaging (MRI) of the neck revealed an infiltrating mass involving the thyroid bed. Biopsy from the mass and review of slides from the previous thyroidectomy revealed a spindle cell tumour with interspersed areas of fibrosis and infiltrative edges entrapping thyroid follicles. Beta-catenin immunopositivity and CTNNB1 mutation confirmed the diagnosis of fibromatosis. The case is being reported for its rarity and the discussion of its differential diagnoses.
thyroid ; fibromatosis ; immunohistochemistry ; molecular ; Thyroid Nodule

Hereditary gingival fibromatosis (HGF) is a rare inherited condition with fibromatoid hyperplasia of the gingival tissue that exhibits great genetic heterogeneity. Five distinct loci related to non-syndromic HGF have been identified; however, only two disease-causing genes, SOS1 and REST, inducing HGF have been identified at two loci, GINGF1 and GINGF5, respectively. Here, based on a family pedigree with 26 members, including nine patients with HGF, we identified double heterozygous pathogenic mutations in the ZNF513 (c.C748T, p.R250W) and KIF3C (c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. Functional studies demonstrated that the ZNF513 p.R250W and KIF3C p.R410H variants significantly increased the expression of ZNF513 and KIF3C in vitro and in vivo. ZNF513, a transcription factor, binds to KIF3C exon 1 and participates in the positive regulation of KIF3C expression in gingival fibroblasts. Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513 (p.R250W) or Kif3c (p.R412H) alone do not led to clear phenotypes with gingival fibromatosis, whereas the double mutations led to gingival hyperplasia phenotypes. In addition, we found that ZNF513 binds to the SOS1 promoter and plays an important positive role in regulating the expression of SOS1. Moreover, the KIF3C p.R410H mutation could activate the PI3K and KCNQ1 potassium channels. ZNF513 combined with KIF3C regulates gingival fibroblast proliferation, migration, and fibrosis response via the PI3K/AKT/mTOR and Ras/Raf/MEK/ERK pathways. In summary, these results demonstrate ZNF513 + KIF3C as an important genetic combination in HGF manifestation and suggest that ZNF513 mutation may be a major risk factor for HGF.
Animals ; Humans ; Mice ; Fibromatosis, Gingival/pathology* ; Gingiva ; Kinesins/genetics* ; Mutation/genetics* ; Phosphatidylinositol 3-Kinases/genetics*

Nine cases of mesenteric desmoid-type fibromatosis were diagnosed and treated in Taizhou Hospital, Wenzhou Medical University between January 2010 and May 2022, including 2 females and 7 males, aged 16 to 59 years. The lesions were in the mesentery of small intestine with 7 cases, ileocecal junction with 1 cases and transverse colon with 1 case. The tumors had an unclear boundary and no envelope, the section was solid, gray and tough. The mean maximum diameter was (10.7±8.5) cm (range 3.5-33.0 cm). Microscopically, fusiform fibroblasts and myofibroblasts were parallel, bunched or staggered, buried in a large amount of extracellular collagen. The cell morphology was relatively consistent, without obvious atypia, and mitosis was rare. Immunohistochemistry showed that the tumor cells were positive for vimentin (9/9), β-catenin (9/9), while smooth muscle actin (5/9) stains were focally positive. Ki-67 proliferation index was 1%-10%. Cytokeratin Pan, S-100, STAT6, CD117, DOG1, CD34, desmin and anaplastic lymphoma kinase stains were negative. Genetic analysis showed that there were 7 cases of c.121G>A(p.Thr41Ala) mutation of CTNNB1 gene, 1 case of c.121G>A(p.Thr41Ala) and 1 case of c.134C>T(p.Ser45Phe) double mutation, and 1 case of wild type. Tumors were surgically resected in all 9 cases. Eight cases had no recurrence or metastasis, 1 case had recurrence 6 months later, and no recurrence or metastasis after additional surgical resection.
Male ; Female ; Humans ; Fibromatosis, Aggressive/diagnosis* ; Immunohistochemistry ; Fibroblasts/metabolism* ; Mesentery/pathology* ; beta Catenin/analysis*

Intra-abdominal desmoid tumor (IADT) and gastrointestinal stromal tumor (GIST) are both mesenchymal tumors mostly found in gastrointestinal tracts and easily misdiagnosed, which would directly damage the survival prognosis and quality of life of patients. With the advent of the era of precision medicine, the understanding of the above two diseases is more in-depth, and the requirements for accurate diagnosis and individualized precision treatment are more stringent. Moreover, there seems to be some internal relationship between IADT and GIST, and the lack of systematic research and discussion makes clinical decision-making and patient management easy to fall into traps and misunderstandings. Therefore, this paper reviews the clinical characteristics, pathogenesis and treatments of the two, and explore their differences and internal relations, so as to provide research and practical reference for promoting more precise and individualized diagnosis and treatment regimens.
Clinical Decision-Making ; Fibromatosis, Aggressive/diagnosis* ; Gastrointestinal Stromal Tumors/diagnosis* ; Humans ; Prognosis ; Quality of Life

Hereditary gingival fibromatosis (HGF) is a familial hereditary disease; while it is rare and usually benign, it is also characterized by the slow and progressive development of gingival tissue. This paper reports on the clinical examina-tion and history of HGF in a family of patients.
Fibromatosis, Gingival ; Gingiva ; Humans

PURPOSE: To identify prognostic factors influencing progression-free survival (PFS) of aggressive fibromatosis (AF) after postoperative radiotherapy (PORT) and assess correlations between immunohistochemistry (IHC) features of β-catenin/smooth muscle actin (SMA) and PFS. MATERIALS AND METHODS: Records of 37 patients with AF treated by PORT from 1984 to 2015 were retrospectively reviewed. Fifteen patients underwent wide excision for AF and 22 patients received debulking operation. The median total dose of PORT was 59.4 Gy. IHC staining results of β-catenin and SMA were available for 11 and 12 patients, respectively. RESULTS: The median follow-up duration was 105.9 months. Five-year PFS rate was 70.9%. Tumor size or margin status was not related to PFS in univariate analysis (p = 0.197 and p = 0.716, respectively). Multivariate analysis showed that increased interval from surgery to PORT (>5.7 weeks) was a marginal risk factor for PFS (p = 0.054). Administration of PORT at the initial diagnosis resulted in significantly improved PFS compared to deferring PORT after recurrence (p = 0.045). Patient with both risk factors of deferring PORT after recurrence and interval from surgery to PORT >5.7 weeks had significantly lower 5-year PFS than patients without risk factor (34.1% vs. 100.0%; p = 0.012). Nuclear β-catenin intensity tended to inversely correlate with 5-year PFS, although it did not reach statistical significance (62.5% at low vs. 100.0% at high; p = 0.260). SMA intensity was not related to PFS (p = 0.700). CONCLUSION: PORT should be performed immediately after surgery irrespective of margin status or tumor size especially in recurrent case. Nuclear β-catenin staining intensity of IHC might correlate with local recurrence.
Actins ; beta Catenin ; Diagnosis ; Disease-Free Survival ; Fibromatosis, Aggressive ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Multivariate Analysis ; Radiotherapy ; Radiotherapy, Adjuvant ; Recurrence ; Retrospective Studies ; Risk Factors

PURPOSE: Desmoid tumors are locally aggressive tumors with no known potential for metastasis. They tend to recur even after complete excision. Sometimes it is not easy to differentiate between intra-abdominal desmoid and tumor recurrence, especially after gastrointestinal (GI) tumor resection. The current study aims to review the characteristics, management, and outcomes of patients with intra-abdominal desmoid tumor post GI resection.METHODS: During the period between 2007 and 2018, after a retrospective review of patients' clinical data, 10 patients were finally included. Medical records were screened for demographic, clinical, pathological data, management strategy, postoperative morbidity, mortality, recurrence rate and follow-up.RESULTS: The study comprised 10 patients (8 males). The median age was 53.5 years (range, 35–68 years). Two patients diagnosed as familial adenomatous polyposis (FAP). All the patients underwent previous GI resection: three (30%) for colon cancer, three (30%) gastrectomy, two (20%) total proctocolectomy with ileal pouch-anal anastomosis (TPC+IPAA) for FAP, one (10%) low anterior resection (three rectal cancers) and one (10%) distal pancreatectomy. The tumor was found to be in bowel mesentery in eight cases (80%). The median tumor size was 5.3 cm (range, 2.6–19.0 cm). Six patients (60%) underwent open resection, while four patients (40%) underwent laparoscopic surgery. Complications occurred in five cases (50%) and ranged from Clavien-Dindo (II-III). The median follow-up period was 16.5 months (1.5–136.0 months) with recurrence in one case (10%). Pathology came out to be desmoid tumor fibromatosis in all cases.CONCLUSION: When a mass develops after surgical resection for abdominal GI malignancy and tends to be large in size, located in the bowel mesentery and away from previous primary tumor site, most probably it is desmoid rather than tumor recurrence.
Adenomatous Polyposis Coli ; Colonic Neoplasms ; Fibroma ; Fibromatosis, Aggressive ; Follow-Up Studies ; Gastrectomy ; Humans ; Laparoscopy ; Medical Records ; Mesentery ; Mortality ; Neoplasm Metastasis ; Pancreatectomy ; Pathology ; Recurrence ; Retrospective Studies

BACKGROUND: We retrospectively reviewed the outcomes of patients who had been treated with meloxicam for the extra-abdominal desmoid tumors and evaluated the correlation between clinical outcome and clinic pathological variables. METHODS: Twenty patients treated with meloxicam were followed up every 3 to 6 months. Meloxicam administration was planned at 15 mg/day orally for 6 months. RESULTS: Of the 20 patients evaluated, according to Response Evaluation Criteria in Solid Tumors criteria, there were five patients with partial response (25.0%), eight with stable disease (40.0%), and seven with tumor progression (35.0%). The cumulative probability of dropping out from our nonsurgical strategy using meloxicam was 35.0% at 1 year and 35.0% at 5 years. CONCLUSIONS: The present study suggests that conservative treatment would be a primary treatment option for this perplexing disease even though we were not able to determine that the use of a cyclooxygenase-2 inhibitor would have an additional influence on the natural course of a desmoid tumor.
Cyclooxygenase 2 ; Fibromatosis, Aggressive* ; Humans ; Response Evaluation Criteria in Solid Tumors ; Retrospective Studies

OBJECTIVETo evaluate the safety and feasibility of radical surgery for giant desmoid in abdominal wall accompanied with the repair of giant myofascial defect using synthetic prosthesis.

METHODSWe analyzed the clinical and follow-up data of 31 patients with giant desmoid in abdominal wall undergoing radical resection and immediate abdominal wall reconstruction with synthetic prosthesis from January 2007 to January 2017 retrospectively. Patients were recruited at the Diagnostic and Therapeutic Center of Hernia and Abdominal Wall Diseases, the First Affiliated Hospital of Chinese PLA General Hospital and the Department of General Surgery, Chinese PLA General Hospital. Operative conditions, morbidity of complication, short- and long-term outcomes were summarized. All the patients underwent radical resection and infiltrated organs or tissues were simultaneously treated. Synthetic prosthesis was used to perform primary-intention reconstruction of giant myofascial defect in anterior or lateral abdominal wall. Bridging repair procedure for incisional hernia was used to perform double border fixation between prosthesis border and myofascial defect border. Placement and fixation of prosthesis followed the idea of "conformal repair", then prosthesis was finally repaired as arch in accordance with original abdominal wall.

RESULTSOf 31 patients, 28 cases were female with mean age of 35.2 (16-58) years and 3 were male with mean age of 42.6 (20-79) years. Six initial cases (19.4%) were diagnosed by preoperative biopsy, and 25 recurrent cases (60.6%) were diagnosed by medical history. The mean minimal diameter of tumors was 18.2 (14-25) cm, and the mean maximal diameter was 45.3 (32-53) cm. All 31 patients underwent radical resection and immediate abdominal wall reconstruction using synthetic prosthesis in bridging fashion successfully, and rapid pathological examination showed that all resection margins were negative. The average operative time was 335 (245-610) min, and the average intra-operative blood loss was 1260 (500-3500) ml. The size of abdominal wall defect after removal of desmoid ranged from 21 cm × 23 cm to 35 cm × 60 cm. The defects in 29 patients were repaired with compound synthetic prosthesis and the defects in 2 patients were repaired with compound prosthesis and polypropylene mesh. Four patients(12.9%) developed postoperative infection, in whom 3 patients had prosthesis infection during 1 month postoperatively, then 1 case recovered with conservative therapy, the other 2 cases were healed after the removal of infected prosthesis at 2 weeks and 3 months postoperatively, respectively; 1 patient had infection of artificial vessel prosthesis and received a second operation to remove the infected artificial vessel. The other 27 patients recovered smoothly and got primary intention wound healing. These 31 patients were followed up for a median of 60.5 (10-121) months with complete data. No marginal recurrence, incisional hernia, and abdominal wall bulge happened. One patient undergoing removal of all anterior and lateral abdominal wall had difficult defecation and urination during the first month after operation, and recovered through practising chest breathing. Ten patients developed fresh desmoids in other body positions postoperatively within 1-3 years, in whom 3 patients died of intestinal obstruction due to rapid neoplasm development and 7 patients survived with tumor receiving conservative therapy. All the 28 survival patients could restore normal life and workand have appropriate sports.

CONCLUSIONRadical resection and immediate reconstruction of giant myofascial defect using synthetic prosthesis for patients with giant desmoid in abdominal wall is safe and effective.

Abdominal Wall ; pathology ; surgery ; Adolescent ; Adult ; Female ; Fibromatosis, Aggressive ; surgery ; Hernia ; Hernia, Ventral ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Surgical Mesh ; Treatment Outcome ; Young Adult

PURPOSE: Laparoscopic approaches to the anterior abdominal wall are difficult because of the inherent limitations of laparoscopic surgery. METHODS: A 25-year-old young female visited to our hospital with an incidentally-found palpable abdominal mass. Computed tomography revealed a 7-cm round enhancing mass arising from the left posterior rectus sheath. The patient underwent laparoscopic excision of the inner mass arising from the anterior abdominal wall. RESULTS: The operation lasted for 45 minutes and there was no measurable bleeding during the procedure. Pathological assessment revealed that the tumor was a DTF 7.0 cm in size. The patient was discharged on the second postoperative day in good condition, and is currently being followed on a routine basis for surveillance without adjuvant therapy. CONCLUSION: Laparoscopic approach for the anterior abdominal wall tumor could be feasible in select patients. This minimally-invasive approach helps to ensure good cosmetic outcomes and quality of life.
Abdominal Wall* ; Adult ; Female ; Fibroma* ; Fibromatosis, Abdominal ; Hemorrhage ; Humans ; Laparoscopy ; Quality of Life