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.

Extra-abdominal desmoid fibromatosis arising from the oesophagus and the contemporaneous traction diverticula due to an oesophageal tumour is extremely rare. We present this complex situation in a 2-year-old girl which posed a surgical challenge requiring simultaneous management of multiple pathologies. Surgery addressed both the entities and the presence of the diverticulum facilitated achieving negative surgical margins.

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.

Desmoid tumors, while generally benign histologically, can exhibit locally aggressive behavior, especially when located in the anterior abdominal wall. This case report explores the management of a rare giant desmoid tumor complicated by concurrent lymphedema, emphasizing the nuances of diagnosis, treatment decisions, and their impact on the patient’s quality of life. The patient, a 55-year-old obese individual with a BMI of 47, presented with a 25 cm mass in the right paraumbilical region, alongside significant lymphedema in the right lower limb and associated inguinal lymphadenopathy. Abdominal CT revealed a well-defined soft tissue mass in the right paramedian hypogastric region, suggestive of a desmoid tumor. Surgical intervention involved a monobloc resection of the mass with a 5 cm lateral margin, including the right rectus abdominis muscle and associated aponeuroses, and subsequent reconstruction using a biface intraperitoneal synthetic mesh. Postoperative recovery was marked by the resolution of lymphedema and a return to full function of the affected limb. Histopathological examination confirmed the diagnosis of a desmoid tumor. This case underscores the importance of radical surgical resection with adequate margins and appropriate reconstruction to achieve favorable long-term outcomes. The report provides insights for future research and therapeutic advancements in the management of desmoid tumors.

Desmoid disease, though technically a benign condition, is nevertheless a leading cause of morbidity and mortality in patients with familial adenomatous polyposis (F.A.P.). Desmoid disease impacts approximately 30% of FAP patients, with several known risk factors. It runs the gamut in terms of severity-ranging from small, slow-growing asymptomatic lesions to large, focally destructive, life-threatening masses. Desmoids usually occur following surgery, and several patient risk factors have been established, including female sex, family history of desmoid disease, 3′ APC mutation, and extraintestinal manifestations of FAP. Desmoid disease-directed therapy is individualized and impacted by desmoid stage, severity, postsurgical anatomy, and consequences of disease. Medical therapy consists of options in multiple classes of drugs: nonsteroidal anti-inflammatory drugs, hormonal therapy, tyrosine kinase inhibitors, and cytotoxic agents. Surgical excision is sometimes an option, but can be limited by common location of disease at the root of the small bowel mesentery. Palliative surgical treatments are often considered in management of desmoid disease. Intestinal transplantation for severe desmoid disease is an emerging and promising option, though long-term data on efficacy and survival is limited.

Background: Rare diseases are associated with unique challenges encountered in diagnosis, treatment and conduct of clinical research. Desmoid tumour (DT) is one such ultra-rare malignancy about which awareness among medical professionals remains limited. We developed a questionnaire to assess knowledge, attitude and practice (KAP) among medical professionals on DT.

Methods: E-Delphi method was used for the assessment of KAP for DT amongst clinical experts (experience of >/= 3 years in DT). 22 open-ended statements were developed by the core research group using current consensus guidelines. In round 1, experts provided subjective feedback which was incorporated into a 35-item questionnaire. Round 2 entailed experts giving feedback as a 5-point Likert scale classified into agreement (median score >/=4), neutral (median score 3) and disagreement (median score <3). Feedback from Round 2 was incorporated and questions with neutral consensus were modified. Questions in Round 3 achieved consensus if >/= 75% participants agreed.

Results: 11 (64.7%) of 17 contacted experts responded in Round 1 including 6 (54.4%) who gave additional inputs and 5 (45.6%) who agreed to all statements. In round 2, 8 out of 11 experts responded to the 35-item questionnaire on knowledge (n = 16), attitude (n = 8) and practice (n = 11). 32 questions obtained agreement and 3 (8.5%) had neutral consensus. These were modified for round 3, in which consensus on 2 (66.6%) was attained. The final questionnaire comprises 34 items with 15, 8 and 11 questions on in the sections of knowledge, attitude and practice (KAP), respectively.

Correspondence to: Simran Kaur
Email: drsimrankaur@aiims.edu