Effective high intensity focused ultrasound treatment in recurrent aggressive breast fibromatosis: a case report

Here, we present a case of a patient with aggressive breast fibromatosis with multiple recurrence after surgeries, who underwent high intensity focused ultrasound (HIFU) treatment effectively without side effects. To our knowledge, this is the first reported case of HIFU treatment in aggressive breast fibromatosis, which indicates that HIFU might be a novel, promising modality for this rare disease.

Desmoid fibromatosis (DF) is a rare fibroblastic proliferation that was historically treated with surgery. We report (a) outcomes using low-dose chemotherapy, methotrexate (MTX), and vinorelbine (VNL) for patients with progressing disease (PD) and (b) whether tumor volume (Vtumor ) and T2 signal on magnetic resonance imaging (MRI) are more reflective of treatment response compared with maximum tumor dimension (Dmax ) defined by RECIST1.1. Patients with biopsy-proven DF, treated with MTX/VNL from 1997 to 2015 were reviewed. MRI for a subset of patients was independently re-evaluated for response by RECIST, Vtumor , and quantitative T2 hyperintensity. Among 48 patients treated for a median 19 months MTX/VNL, only nine (19%) had previous surgery. RECIST-based overall response rate was complete response (CR) 20 (42%) + partial response (PR) 19 (39%), stable disease (SD) 8 (17%), for a clinical benefit rate of 98%. The median progression-free survival (PFS) was 120 months, (95%CI 84-155 months). Thirty-six (75%) patients had not progressed at a median 38 months from treatment completion. Most common grade 1/2 toxicities included nausea (n = 12, 25%) and fatigue (n = 9,19%) with no grade 3/4 toxicities. In 22 patients with serial MRIs, there was a decrease in Dmax mean by 30%, Vtumor by 76%, and in 19/22 (86%) a decrease in T2 signal intensity. Low-dose MTX/VNL for a defined duration has high efficacy with sustained benefit and minimal toxicity for treating DF. Vtumor and T2 signal might better predict treatment response than RECIST.

We present the case of a 63-year-old post-menopausal woman with a desmoid tumor of the anterior abdominal wall. She had no relevant family history. During abdominoplasty, an incidental mass was excised and biopsied, and was identified as a desmoid tumor with free margins. One year later, the patient presented with vague abdominal discomfort and feeling of heaviness. An incision was made through the previous abdominoplasty scar to maintain the aesthetic outcome. A large mass, arising from the abdominal wall and extending intra-abdominally, was excised and was determined to be a recurrent desmoid tumor. During abdominal wall repair in abdominoplasty, desmoid tumor filaments might seed deep intra-abdominally. Therefore, it is necessary to take adequate safe margins before abdominal wall repair. Post-operatively, surgeons should keep a high index of suspicion for tumor recurrence.

Keloids, dermal fibroproliferative lesions, often occur secondary to skin injury and extend beyond the margins of the original lesion. Aggressive fibromatosis (AF) is a rare condition arising from fibroblasts and is characterized clinically as a nonmetastasizing but locally invasive tumor. In this work, we present the case of a patient who developed AF in the chest 3 years after surgery and postoperative radiotherapy for keloids. A 15-year-old female patient who underwent surgery and postoperative radiotherapy for keloids presented with AF in the chest 3 years after intervention. Physical examination revealed a fan-shaped scar on the manubrium sterni with a radius of 7 cm, as well as a 9 (L) × 2-cm (W) longitudinal reddish and irregularly surfaced scar arising from previous incisions. By comparing this case with similar cases reported previously, we infer that a history of exposure to radiation is the main factor that contributes to the development of AF in patients suffering from keloid scars. We also discussed the clinical characteristics of AF and treatment options and suggest factors that should be considered when using radiotherapy in patients with keloids.To our knowledge, this is the first reported case of AF developing in a patient after radiotherapy for keloids. Radiotherapy may be a causal factor of AF.

Here we report a case of 33 year-old woman with a 4-cm solid mass detected in her left adnexal area. She had previously undergone a laparoscopic surgery for endometriosis at age 29, and had been using combined oral contraceptives (COC) to prevent recurrence. The mass was diagnosed as a uterine fibroid on the basis of ultrasonography and MRI scans. GnRH agonist therapy for 3M resulted in shrinkage of the tumor. Using a second laparoscopy, we identified a tumor originating from the sigmoid colon. The pathological diagnosis was desmoid tumor. Gynecologists should consider the occurrence of desmoid tumor in patients who have been using COC and undergone previous surgeries.

In a young 29-year-old Caucasian woman who was diagnosed with a retromammary desmoid tumor infiltrating deeply into the anterior thoracic wall, surgery was considered excessively mutilating, and observation was recommended. The lesion progressed, however, and caused debilitating pain, despite nonsteroidal anti-inflammatory medication. Subcutaneous injections of human interferon-alpha (Multiferon) resulted in reduced growth kinetics but had to be terminated because of development of symptomatic pneumonitis. Frequently used oncological treatment was withheld because of the toxicity profile, and the patient was instead included in a phase I study investigating transdermal intratumoral injection of LTX-315, an oncolytic peptide that induces anticancer immune responses (ClinicalTrials.gov, NCT01986426). A marked increase of CD8+ tumor-infiltrating T cells in the lesion was complemented by upregulation of immune gene signature (including effector T-cell, T-helper type 1 cell, chemokine, and cytokine genes). These changes were followed by gradual symptom relief and long-term disease stabilization, indicating clinical benefit. LTX-315 was well tolerated until termination in week 16 after a serious allergic reaction. Local application of immunotherapy, minimizing systemic side effects, represents a novel treatment modality in desmoid tumors that should be tested in further clinical trials.