Nirogacestat to treat progressive desmoid tumors

[Article in French]

Desmoid tumours are rare, locally aggressive soft tissue tumours that occupy an ambiguous space between benign and malignant disease. Biologically benign, lacking metastatic potential, desmoid tumours frequently recur despite treatment, and cause substantial morbidity through local invasion, organ involvement, and associated chronic pain. This biological ambiguity is mirrored by wide variation in language with patients variously told their tumour is ‘benign’, ‘borderline’, or ‘cancer’. Drawing on patient experience, psycho-oncology literature, and concepts from medical anthropology, this essay examines how diagnostic terminology in desmoid tumour care carries weight beyond mere semantics. It argues that desmoid tumours represent a paradigmatic ‘liminal diagnosis’, in which inconsistent clinical language has the capacity to compound psychological and social distress. By shaping treatment, relationships, and well-being, language exerts a powerful influence that remains largely overlooked in research and clinical practice, highlighting the need for research investigating the direct impact of language on care and the patient experience.

Background: Familial adenomatous polyposis (FAP) is an inherited colorectal cancer syndrome for which ileorectal anastomosis (IRA) preserves the rectum but ileal pouch-anal anastomosis (IPAA) removes it. These procedures may influence the risk of desmoid tumors and involve trade-offs in oncologic protection and bowel function. This study compared the oncologic, desmoid, functional, and postoperative outcomes of IRA and IPAA in FAP.

Methods: PubMed, Embase, Scopus, and the Cochrane Library were searched for relevant studies. Primary outcomes were rectal or pouch-anal cancer and desmoid tumors. Risk of bias was assessed using the ROBINS-I tool, and certainty of evidence was assessed using the GRADE framework. Random-effects meta-analyses were conducted using pooled risk ratios (RRs), mean differences (MDs), and hazard ratios.

Results: Thirty-four studies involving 4,700 patients were included. Compared with IRA, IPAA was associated with lower risks of postoperative rectal and pouch-anal cancer (RR: 0.22, 95% CI: 0.09-0.54) but with a higher risk of desmoid tumors (RR: 1.58, 95% CI: 1.13-2.19). IPAA was associated with higher 24-hour incontinence (RR: 1.90, 95% CI: 1.24-2.92) and 24-hour stool frequency (MD: 1.89 stools/day, 95% CI: 1.29-2.49). Anastomotic stricture was more frequent after IPAA (RR: 2.91, 95% CI: 1.46-5.78), but major complications did not differ substantially between the procedures.

Conclusions: IPAA is associated with greater long-term oncologic protection but worse bowel function and a higher desmoid tumor risk compared with IRA. These findings support individualized procedure selection based on surveillance feasibility to balance functional trade-offs, perioperative risk, and durability.

In patients with familial adenomatous polyposis, intra-abdominal desmoid tumors should be recognized as a rare but important cause of ureteral obstruction and obstructive pyelonephritis. Prompt cross-sectional imaging, early recognition, and multidisciplinary management are essential for preserving renal function, treating infection, and preventing irreversible urinary tract complications.

Breast fibromatosis is a benign, locally aggressive spindle-cell tumor mimicking carcinoma. We report two cases in patients aged 15 and 61 years, highlighting its wide age range. Accurate histopathology prevents overtreatment. Modern management emphasizes individualized care, including active surveillance, complete surgical excision when needed, and long-term follow-up.

While literature surrounding pediatric applications of cryoablation continues to grow and demonstrate potential benefits, evidence to date largely comprises small, retrospective, and uncontrolled series. To address this opportunity, a multidisciplinary panel of pediatric specialists convened virtually in a research consensus panel organized by the Society of Interventional Radiology (SIR); each panelist presented current data surrounding common applications of cryoablation in the pediatric population. A recurring theme throughout the discussion was the potential for cryoablation to increase quality of life in pediatric patients whether applied with curative or palliative intent. After presentations and discussions, research concepts were discussed and ranked on their potential impact, with the following 3 topics emerging as top priorities: (a) thoracic event-free survival and complication comparison between pulmonary metastasectomy and cryoablation of lesions amenable to either modality, (b) a prospective comparison of systemic therapy and cryoablation versus systemic therapy alone in the treatment of desmoid tumor, and (c) the biologic effects of cryoablation on healthy bone, cartilage, and growth plates as may be affected in the treatment of benign osseous lesions.