Intra-abdominal desmoid tumor mimicking local recurrence of renal cell carcinoma after laparoscopic partial nephrectomy

A 64-year-old man had an intra-abdominal mass that was detected in a follow-up examination after laparoscopic partial nephrectomy for renal cell carcinoma (RCC). CT showed an enhanced mass of 2.5-cm diameter near the right kidney, where partial nephrectomy had been performed. Local recurrence of RCC with duodenum invasion was suspected, and excision was performed. The final pathological diagnosis of desmoid tumor differed from the preoperative diagnosis. Therefore, we report this case as a rare example of intra-abdominal desmoid tumor mimicking local recurrence of RCC.

A 37-year-old man with type 1 diabetes mellitus was referred to the hand surgery unit due to increasing pain, numbness and weakness in his right arm developing over more than one year. An ulnar nerve neurography was inconclusive and the patient had a frozen shoulder on the right side. At examination, the clinical presentation did not correspond to an ulnar nerve entrapment why other causes were considered. A chest X-ray revealed a lesion in the apical part of the right lung. Consecutive CT scan, MRI and fine and core needle biopsies led to the diagnosis of a desmoid tumor. Surgery was deemed to be too mutilating and treatment was initiated with doxorubicin. Due to tumor and symptom progression the therapy was changed to PegIntron, then antiestrogen and NSAID and finally tyrosine kinase inhibitor (sorafenib) resulting in tumor shrinkage.

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 beta-catenin/smooth muscle actin (SMA) and PFS. 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 beta-catenin and SMA were available for 11 and 12 patients, respectively. 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 beta-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). PORT should be performed immediately after surgery irrespective of margin status or tumor size especially in recurrent case. Nuclear beta-catenin staining intensity of IHC might correlate with local recurrence.

Visceral fibromatosis and superficial fibromatosis are histologically similar. They both have alterations in the WNT signalling pathway, but mutations in the APC or beta-catenin gene do not occur in superficial fibromatoses. We present four cases of deep fibromatosis and one case of Peyronie’s disease, along with immunohistochemical staining analysis and the criteria for differential diagnosis. All patients were hospitalised in the Central Clinical Hospital of the MSWiA in Warsaw during the period of 2012-2015. Surgical specimens were examined, and tissue samples were embedded in paraffin blocks. As the result of the study we present a short algorithm of immunostainings that can be useful in differential diagnosis. When a spindle cell tumour is encountered in the abdomen a gastrointestinal stromal tumor (GIST) should always be excluded; therefore, a CD117 staining is recommended as the first step. When the staining is negative, fibromatosis can be taken into consideration. Beta-Catenin staining should be done in order to confirm that diagnosis. The diagnosis of fibromatosis is not always simple; GISTs can easily be mistaken for it. Immunohistochemical staining with CD34 and CD117 antibodies are useful in differential diagnosis. DTF should present negative stainings for S100, CD34, CD99, and bcl-2, which can help to distinguish it from other mesenchymal tumours.

The purpose of this study was to retrospectively review the magnetic resonance-guided focused ultrasound (MRgFUS) treatments of desmoid tumors at our institution to determine which technical treatment parameters contributed most significantly to the accumulation of thermal dose. We retrospectively reviewed data from MRgFUS treatments performed in histologically-confirmed desmoid tumors, over a period of 18 months. Nine-hundred thirty-six sonications were reviewed in 13 treatments. Accumulated dose per sonication was greatest for elongated sonications (0.96 cc ± 0.90) compared to short (0.88 ± 0.93 cc) and nominal (0.55 ± 0.70 cc) sonications, p < .001. 65.2% of short sonications resulted in high percentage ablations, compared to 46.0% of nominal and 35.1% of elongated sonications. Regarding dose efficacy, dose area contributed the greatest to this variability – 50.7% (45.5-54.8%), followed by distance – 16.6% (12.9-20.0%). A variety of sonication parameters significantly contributed to thermal ablation volume following MRgFUS of desmoid tumors, in reproducible patterns. This work can serve as the basis for future models working toward improved planning for MRgFUS treatments.

The effect of systemic treatments in desmoid tumors (DT) is inconsistent, calling for novel approaches. We report here a prolonged disease stabilization with ribociclib combined with goserelin and letrozole in a patient with multiple aggressive DTs resistant to endocrine treatment alone. A 19-year-old otherwise healthy female was diagnosed with multifocal DTs. She had a familial history of FAP and a colectomy was preformed previously. During the long treatment of this patient, management guidelines of DTs have changed toward a more conservative approach. In this patient, six DTs were operated in eight operations, one recurrent tumor was resected six times. Due to rapid growth, three DTs were treated with four separate RT courses and one tumor was irradiated twice. The patient was treated with tamoxifen, oral vinorelbine, pegylated liposomal doxorubicin, toremifen, toremifene combined wtih goserelin, and letrozole combined with goserelin. The DTs did not respond to cytotoxic drugs nor tamoxifen. Upon progression during goserelin and letrozole therapy in January 2017 ribociclib 600 mg was added. During this treatment, pain was relieved and the total dose of opiods was diminished. The best response according to World Health Organization (WHO) criteria was stable disease with maximal size reduction of 18% in the sum of the product of bi-dimensional measurements. Due to grade 4 neutropenia, the dose was reduced to 400 mg and then further to 200 mg. In October, grade 4 neutropenia recurred, the pain was increased and one lesion enlarged significantly, and ribociclib was discontinued though formal criteria for progressive disease were not reached.