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Frontiers in Oncology 2024Desmoid tumor (DT) is a rare locally aggressive but non-metastatic mesenchymal soft tissue neoplasm that predominantly occurs in the abdominal wall, abdominal cavity,...
Case report: Rapidly progressive desmoid tumor after surgery for esophagogastric junction cancer and slowly progressive primary desmoid tumor: a report of two cases and literature review.
BACKGROUND
Desmoid tumor (DT) is a rare locally aggressive but non-metastatic mesenchymal soft tissue neoplasm that predominantly occurs in the abdominal wall, abdominal cavity, and extremities. Its occurrence in the mesentery is relatively uncommon.
CASE REPORTS
This article reports two cases of desmoid tumor treated at the Department of Gastrointestinal Surgery, Weifang People's Hospital. The first case was a 59-year-old male patient who had previously undergone surgery for esophagogastric junction cancer. Postoperatively, he developed an intra-abdominal mass that rapidly increased in size within three months. The second case was a 60-year-old male patient who incidentally discovered a mass in the left lower abdomen. Both patients underwent surgical treatment, and the postoperative pathological diagnosis was mesenteric desmoid tumor.
CONCLUSION
The treatment of desmoid tumor remains challenging. Simple surgical resection often yields unsatisfactory outcomes, and the efficacy of adjuvant radiotherapy and chemotherapy is also limited. Further research and clinical practice are necessary to improve diagnostic and therapeutic strategies, aiming to enhance patient survival and quality of life.
PubMed: 38800396
DOI: 10.3389/fonc.2024.1401839 -
Cureus Sep 2023Chiropractors are primary healthcare providers who diagnose and manage various health conditions, including rare cases like desmoid tumors. Desmoid tumors are locally...
Chiropractors are primary healthcare providers who diagnose and manage various health conditions, including rare cases like desmoid tumors. Desmoid tumors are locally aggressive soft-tissue tumors originating from fibroblasts. This report presents the case of a 30-year-old woman who initially sought chiropractic care for persistent neck pain that was later discovered to be a symptom of a sporadic desmoid tumor. The patient presented with severe right upper neck pain, which was diagnosed as myofascial pain syndrome and yielded no significant improvement after various treatments. Physical examination by a chiropractor revealed a soft-tissue mass in the right upper trapezius and rhomboid region. In addition, magnetic resonance imaging revealed an intramuscular lesion measuring 8 × 4 cm in the right rhomboids, and subsequent biopsy confirmed the diagnosis of a sporadic desmoid tumor. The patient underwent successful surgical excision of the tumor. Postoperatively, the chiropractor initiated a comprehensive 12-week rehabilitation program that significantly improved the patient's range of motion and muscular strength and alleviated pain. The remarkable aspect of this case was the location of the tumor in the right rhomboid muscle, a less common site for desmoid tumors. This case underscores the crucial role of chiropractors as primary healthcare providers in the early detection of oncological cases and management of post-surgical rehabilitation.
PubMed: 37799261
DOI: 10.7759/cureus.44653 -
Cureus Apr 2024Desmoid tumors (DTs) are rare, aggressive malignancies developing from clonal fibroblastic proliferation originating from soft tissues. Despite their low metastatic...
Desmoid tumors (DTs) are rare, aggressive malignancies developing from clonal fibroblastic proliferation originating from soft tissues. Despite their low metastatic potential, their invasiveness towards neighboring organs and a high recurrence rate contribute significantly to morbidity and mortality, thereby impacting the quality of life of patients. Several therapeutic options are available, but standardized protocols are lacking. In this study, we reviewed 14 cases of DT retrospectively over a period of 15 years, from September 2008 to December 2023. The most prevalent tumor locations were in the extremities, and the majority of patients were female. We identified risk factors in two patients, those being surgical trauma and familial adenomatous polyposis (FAP). Half of the patients underwent surgery for DT, and two received salvage radiotherapy. Systemic therapy was used in the first and second lines and comprised of chemotherapy, endocrine therapy, and non-steroidal anti-inflammatory drugs (NSAI). Active surveillance was proposed in three patients. This is the first retrospective study to assess the characteristics of DT in Moroccan patients in a tertiary care setting. It aims to shed light on the challenges faced in treating these rare tumors in the context of a lack of therapeutic standardization.
PubMed: 38586227
DOI: 10.7759/cureus.57768 -
Nature Medicine Feb 2024INTRIGUE was an open-label, phase 3 study in adult patients with advanced gastrointestinal stromal tumor who had disease progression on or intolerance to imatinib and... (Randomized Controlled Trial)
Randomized Controlled Trial
INTRIGUE was an open-label, phase 3 study in adult patients with advanced gastrointestinal stromal tumor who had disease progression on or intolerance to imatinib and who were randomized to once-daily ripretinib 150 mg or sunitinib 50 mg. In the primary analysis, progression-free survival (PFS) with ripretinib was not superior to sunitinib. In clinical and nonclinical studies, ripretinib and sunitinib have demonstrated differential activity based on the exon location of KIT mutations. Therefore, we hypothesized that mutational analysis using circulating tumor DNA (ctDNA) might provide further insight. In this exploratory analysis (N = 362), baseline peripheral whole blood was analyzed by a 74-gene ctDNA next-generation sequencing-based assay. ctDNA was detected in 280/362 (77%) samples with KIT mutations in 213/362 patients (59%). Imatinib-resistant mutations were found in the KIT ATP-binding pocket (exons 13/14) and activation loop (exons 17/18). Mutational subgroup assessment showed 2 mutually exclusive populations with differential treatment effects. Patients with only KIT exon 11 + 13/14 mutations (ripretinib, n = 21; sunitinib, n = 20) had better PFS with sunitinib versus ripretinib (median, 15.0 versus 4.0 months). Patients with only KIT exon 11 + 17/18 mutations (ripretinib, n = 27; sunitinib, n = 25) had better PFS with ripretinib versus sunitinib (median, 14.2 versus 1.5 months). The results of this exploratory analysis suggest ctDNA sequencing may improve the prediction of the efficacy of single-drug therapies and support further evaluation of ripretinib in patients with KIT exon 11 + 17/18 mutations. ClinicalTrials.gov identifier: NCT03673501.
Topics: Adult; Humans; Sunitinib; Gastrointestinal Stromal Tumors; Imatinib Mesylate; Drug Resistance, Neoplasm; Biomarkers; Mutation; Antineoplastic Agents; Proto-Oncogene Proteins c-kit; Protein Kinase Inhibitors; Gastrointestinal Neoplasms; Naphthyridines; Urea
PubMed: 38182785
DOI: 10.1038/s41591-023-02734-5 -
International Journal of Surgery Case... Oct 2023While rare, desmoid tumors can develop after abdominal surgery and are difficult to differentiate from recurrent tumors following cancer resection. In this report, we...
INTRODUCTION AND IMPORTANCE
While rare, desmoid tumors can develop after abdominal surgery and are difficult to differentiate from recurrent tumors following cancer resection. In this report, we describe two cases of desmoid tumors that occurred following gastric cancer procedures and were successfully treated with surgical resection.
CASE PRESENTATION
In Case 1, a 77-year-old woman underwent open distal gastrectomy for gastric cancer followed by Roux-en-Y reconstruction. The pathological diagnosis was stage IIB T3N1M0 disease. Four years postsurgically, computed tomography (CT) revealed a 2.4 cm tumor lesion in the upper abdomen. Desmoid tumor was the most suspected tumor, for which a resection with partial resection of the jejunum was performed. In case 2, a 60-year-old man underwent open distal gastrectomy for gastric cancer and Billroth I reconstruction; the pathological diagnosis was T1aN0M0 stage IA. Two years later, CT revealed a 4.0 cm tumor lesion in the upper abdomen. As in Case 1, desmoid tumor was most suspected, a tumor resection with partial resection of the jejunum was performed. Based on the pathological findings, the tumors were diagnosed as desmoid tumor. There had been no recurrence of either gastric cancer or the desmoid tumor in both cases.
CLINICAL DISCUSSION
Although active surveillance has been recommended for desmoid tumors recently, surgical resection is appropriate when recurrence cannot be ruled out.
CONCLUSIONS
Desmoid tumors should be included in the differential diagnosis when intra-abdominal tumors occur after surgery for gastric cancer. Complete resection with adequate margins can prevent desmoid recurrence.
PubMed: 37783106
DOI: 10.1016/j.ijscr.2023.108824 -
Cancers Jan 2024Extra-abdominal desmoid-type fibromatosis (EADTF) is a rare neoplastic condition of monoclonal fibroblastic proliferation characterized by local aggressiveness with a... (Review)
Review
Extra-abdominal desmoid-type fibromatosis (EADTF) is a rare neoplastic condition of monoclonal fibroblastic proliferation characterized by local aggressiveness with a distinct tendency to recur. Although EADTF is a benign disease entity, these tumors have a tendency to infiltrate surrounding normal tissues, making it difficult to completely eliminate them without adjacent healthy tissue injury. Surgical excision of these locally aggressive tumors without clear resection margins often leads to local recurrence. The aim of this thorough review was to assess the current treatment concepts for these rare tumors. A comprehensive search of articles published in the Cochrane Library, MEDLINE (PubMed), and EMBASE databases between January 2008 and February 2023 was conducted. Surgical intervention is no longer the first-line approach for most cases; instead, strategies like active surveillance or systemic therapies are used as initial treatment options. With the exception of EADTFs situated near vital structures, a minimum of 6-12 months of active surveillance is currently advocated for, during which some disease progression may be considered acceptable. Non-surgical interventions such as radiation or cryoablation may be employed in certain patients to achieve local control. The currently preferred systemic treatment options include tyrosine kinase inhibitors, low-dose chemotherapy, and gamma-secretase inhibitors, while hormone therapy is not advised. Nonsteroidal anti-inflammatory drugs are utilized primarily for pain management.
PubMed: 38254764
DOI: 10.3390/cancers16020273 -
The Kurume Medical Journal Nov 2023Desmoid tumors are rare soft-tissue tumors that exhibit locoregional aggressiveness and a high local recurrence rate following initial resection. No fixed... (Review)
Review
Desmoid tumors are rare soft-tissue tumors that exhibit locoregional aggressiveness and a high local recurrence rate following initial resection. No fixed recommendations have been established with regard to the timing and method of treatment for desmoid tumors that enlarge during pregnancy. Desmoid tumors tend to enlarge during pregnancy, and most do not regress spontaneously postpartum. Thus, surgery may be required even during pregnancy. We report a case of an abdominal wall desmoid tumor that grew to 90 mm during pregnancy and was resected at 17 weeks of gestation. Marginal resection was performed, and the surgical margin was microscopically positive. The postoperative course and the pregnancy were uneventful, and no recurrence was observed at the 15-month follow-up visit.
Topics: Pregnancy; Female; Humans; Fibromatosis, Aggressive; Fibromatosis, Abdominal
PubMed: 37544750
DOI: 10.2739/kurumemedj.MS6912004 -
Asian Journal of Neurosurgery Mar 2024Desmoid tumors are locally aggressive, benign neoplasms originating in connective tissues. Although the exact pathophysiology remains unknown, antecedent trauma or...
Desmoid tumors are locally aggressive, benign neoplasms originating in connective tissues. Although the exact pathophysiology remains unknown, antecedent trauma or surgery are believed to be important contributing factors. The occurrence of paraspinal desmoid tumor in pediatric patients is extremely uncommon. Here, we present an exceedingly rare case of a pediatric patient with no surgical or family history who developed a paraspinal desmoid tumor. A 9-year-old female patient presented with 4 months of progressive back pain, right lower extremity weakness, and numbness. Spinal imaging revealed a left epidural paraspinal mass compressing her thoracic spinal cord and extending into the left thoracic cavity. A multidisciplinary approach with neurosurgery and thoracic surgery enabled gross total resection of the lesion. The patient had complete resolution of her symptoms with no signs of residual tumor on postoperative imaging. Pathology revealed a desmoid tumor that avidly stained for beta-catenin. On her last follow-up, she developed a recurrence, to which she was started on sorafenib therapy. Desmoid tumors are rare connective tissue neoplasms that often occur after local tissue trauma, such as that caused by surgery. This report presents a rare case of a pediatric paraspinal desmoid tumor that occurred in a patient with no surgical or family history. Such tumors should undergo surgical resection for symptomatic relief and tissue diagnosis. Close clinical and radiographic surveillance are essential in these patients due to the high recurrence rates of desmoid tumor.
PubMed: 38751393
DOI: 10.1055/s-0043-1771366 -
Clinical and Experimental Medicine Jul 2023Sporadic intra-abdominal desmoid tumors are rare and known to potentially occur after trauma including previous surgery, although knowledge of the underlying... (Review)
Review
Intraabdominal sporadic desmoid tumors and inflammation: an updated literature review and presentation and insights on pathogenesis of synchronous sporadic mesenteric desmoid tumors occurring after surgery for necrotizing pancreatitis.
Sporadic intra-abdominal desmoid tumors are rare and known to potentially occur after trauma including previous surgery, although knowledge of the underlying pathogenetic mechanism is still limited. We reviewed the recent literature on sporadic intraabdominal desmoids and inflammation as we investigated the mutational and epigenetic makeup of a case of multiple synchronous mesenterial desmoids occurring after necrotizing pancreatitis. A 62-year-old man had four mesenteric masses up to 4.8 cm diameter detected on CT eighteen months after laparotomy for peripancreatic collections from necrotizing pancreatitis. All tumors were excised and diagnosed as mesenteric desmoids. DNA from peripheral blood was tested for a multigene panel. The tumour DNA was screened for three most frequent β-catenin gene mutations T41A, S45F and S45P. Expression levels of miR-21-3p and miR-197-3-p were compared between the desmoid tumors and other wild-type sporadic desmoids. The T41A CTNNB1 mutation was present in all four desmoid tumors. miR-21-3p and miR-197-3p were respectively upregulated and down-regulated in the mutated sporadic mesenteric desmoids, with respect to wild-type lesions. The patient is free from recurrence 34 months post-surgery. The literature review did not show similar studies. To our knowledge, this is the first study to interrogate genetic and epigenetic signature of multiple intraabdominal desmoids to investigate potential association with abdominal inflammation following surgery for necrotizing pancreatitis. We found mutational and epigenetic features that hint at potential activation of inflammation pathways within the desmoid tumor.
Topics: Male; Humans; Middle Aged; Fibromatosis, Aggressive; Mutation; Inflammation; beta Catenin; Pancreatitis; MicroRNAs
PubMed: 35913675
DOI: 10.1007/s10238-022-00849-6 -
Transplantation Direct Feb 2024Desmoid tumors are fibroblastic lesions which often have an unpredictable and variable clinical course. In the context of familial adenomatous polyposis (FAP), these...
BACKGROUND
Desmoid tumors are fibroblastic lesions which often have an unpredictable and variable clinical course. In the context of familial adenomatous polyposis (FAP), these frequently occur intra-abdominally, especially in the small-bowel mesentery resulting in sepsis, fistulation, and invasion of the abdominal wall and retroperitoneum. In selected cases where other modalities have failed, the most radical option is to perform a total enterectomy and intestinal transplantation (ITx). In this study, we present our center's experience of ITx for desmoid in patients with FAP.
METHODS
We performed a retrospective review of our prospectively collected database between 2007 and 2022. All patients undergoing ITx for FAP-related desmoid were included.
RESULTS
Between October 2007 and September 2023, 144 ITx were performed on 130 patients at our center. Of these, 15 patients (9%) were for desmoid associated with FAP (7 modified multivisceral transplants, 6 isolated ITx, and 2 liver-containing grafts). The median follow-up was 57 mo (8-119); 5-y patient survival was 82%, all with functioning grafts without local desmoid recurrence. These patients presented us with several complex surgical issues, such as loss of abdominal domain, retroperitoneal/abdominal wall involvement, ileoanal pouch-related issues, and the need for foregut resection because of adenomatous disease.
CONCLUSIONS
ITx is a viable treatment in selected patients with FAP and extensive desmoid disease. The decision to refer for ITx can be challenging, particularly the timing and sequence of treatment (simultaneous versus sequential exenteration). Delays can result in additional disease burden, such as secondary liver disease or invasion of adjacent structures.
PubMed: 38264298
DOI: 10.1097/TXD.0000000000001571