Combination of Anlotinib and Celecoxib for the Treatment of Abdominal Desmoid Tumor: A Case Report and Literature Review

Desmoid tumor is a rare disease, which is histologically characterized by local invasion, monoclonality, and fibroblast proliferation; and clinically characterized by a variable and often unpredictable course. The treatment of desmoid tumor is mainly surgical resection, but the recurrence rate is high. In recent years, a variety of treatment methods, including endocrine therapy, surgery, radiotherapy, chemotherapy, non-steroidal anti-inflammatory drugs, targeted drugs, interferon and more, have been used and achieved certain curative effects. In addition, in view of the inertia characteristics of desmoid tumor, observation is also a first-line scheme recommended by multiple guidelines. In the past, the research progress of targeted therapy for desmoid tumor is relatively slow and the curative effect is limited. Thus, targeted therapy is usually used as a remedial treatment after the failure of other conventional treatment methods. However, in recent years, with the rapid progress in the basic research of targeted therapy, some new targeted drugs are increasingly used for the clinical treatment of desmoid tumor and have achieved good results. Herein, we described a patient with aggressive fibromatosis in the abdominal cavity. Following a combined treatment using anlotinib and celecoxib, the patient achieved a partial response with mild toxicity. Simultaneously, the patient’s pain symptoms completely disappeared. This case indicates that the combination of anlotinib and NSAIDs could be an effective treatment for desmoid tumor.

An aggressive fibromatosis in the palm of a female child: A rare case

Aggressive fibromatosis is the locally aggressive benign tumor of mesenchymal origin. It can be found in any part of the body. However, abdomen is the most common site of this lesion. It has a predilection to females between 15 and 60 years. We report the case of a 16-month-old female child with an aggressive fibromatosis in her right palm. The location and age of presentation make this a rare case. She was diagnosed by histopathological examination and the mass was excised. The patient was advised for follow-up examination due to the high degree of recurrence of this tumor.

Case Report: Two Cases of Abdominal Aggressive Fibromatosis That Mimicked Abdominal Wall Endometriosis and Review of Literature

Background: Abdominal aggressive fibromatosis (AF) can be confounded with abdominal wall endomentriosis (AWE) because they share considerable similarity. Because of the different patient prognoses and treatment strategies available, accurate pre-operative diagnosis is important.Case Presentation: We here report two cases of abdominal masses presenting as periodic changes in tumor sizes, which occurred in correlation with the menstrual cycle. The clinical findings were highly suggestive of AWE. However, the final pathological findings revealed AF. The estrogen receptor and progesterone receptor expressions were negative in the two cases. The differences between the two diseases have been discussed in detail.Conclusion: A diagnosis of AWE should be scrutinized closely if the patient does not complain of cyclic pain. Fine-needle aspiration cytology is a suitable tool for pre-operative evaluation.

Scapulectomy for Fibromatosis – Ocological and Functional Outcomes

Aggressive fibromatosis is a locally invasive tumor that does not metastasize. Only few cases of scapulectomy for fibromatosis of scapular muscles are reported in the world literature. We present two consecutive cases of scapulectomy done for fibromatosis of periscapular muscles at the Department of Surgical Oncology in our centre between 2014 and 2019. One patient underwent subtotal scapulectomy by posterior approach and the other patient underwent scapulectomy below spine of scapula by combined anterior and posterior approach. The follow-up period of both the patients was 5 years. One patient developed recurrence after 9 months of surgery dealt by re-resection followed by adjuvant radiation. The modified Musculoskeletal Tumor Society (MSTS) score for scapular surgery was 20 in the first patient and 22 in the second patient. Both of them are able to carry out normal regular activities with the compensation from the opposite upper limb. Scapulectomy for symptomatic fibromatosis of the scapular muscles gives acceptable functional results and good disease-free interval. Scapulectomy should be considered as part of resection for better tumor clearance in fibromatosis involving muscles around the scapula. Further studies are needed to evaluate and validate the need for radical surgery in this setting.

CLINICAL, X-RAY AND COMPUTER-TOMOGRAPHIC PICTURE OF DESMOPLASTIC FIBROMA OF THE LOWER JAW IN CHILDREN

The paper presents the results of a clinical observation of a 6-year-old female patient, who was admitted to the department of maxillofacial surgery of a multidisciplinary hospital under the compulsory health insurance system with a rare disease of the bone tissue of the lower jaw – desmoplastic fibroma. Desmoplastic fibroma of bone tissue (aggressive fibromatosis, desmoid fibroma) is a rare, locally aggressive, benign tumor localized in bone tissue, it is a mesenchymal fibroproliferative tumor with locally destructive growth, accounting for less than 0.03% of all human tumors. According to the literature, desmoplastic fibroma has a recurrence rate of 37% to 72%, resection of the affected bone is the preferred therapy, and, ideally, resection should be a single resection block. Wide excision is the method of choice for treating operable desmoid tumors in children. The article presents a dynamic observation within 1 year after surgical treatment. The article presents the clinical, radiological and computed tomographic picture of the disease and the results of instrumental and histological examination of a rare oncostomatological pathology. Purpose: clinical, radiological, 3D computed tomography observation of a child with desmoplastic fibroma of the lower jaw. Materials and methods: the results of a clinical examination, instrumental methods of X-ray diagnostics, stages of surgical treatment, a histological report and photographs of the patient's appearance are presented. Conclusion: Given the high regenerative capacity of bone tissue in children, it is necessary to perform surgical treatment of benign neoplasms by the type of marginal resection, that is, by the organ-preserving type, and to conduct dispensary observation of the patient during the first year.

Whole-Genome and Transcriptome Sequencing Identified NOTCH2 and HES1 As Potential Markers of Response to Imatinib in Desmoid Tumor (Aggressive Fibromatosis): A Phase II Trial Study

Background: Desmoid tumor, also known as aggressive fibromatosis, is well-characterized by abnormal Wnt/β-catenin signaling. Various therapeutic options, including imatinib, are available to efficiently treat desmoid tumor. However, molecular mechanism of why imatinib works remains poorly understood. Here, we describe the potential roles of NOTCH2 and HES1 in association with clinical response to imatinib as in genome and transcriptome levels. Methods: We identified all somatic mutations in coding and non-coding regions via whole genome sequencing using desmoid tumor samples. To validate the genetic interaction with expression level in desmoid-tumor condition, we utilized large-scale Whole-genome sequencing (WGS) and transcriptome datasets from the Pan-Cancer Analysis of Whole Genomes (PCAWG) project. RNA-sequencing was performed using prospective and retrospective cohort samples to evaluate the expressional relevance with clinical response. Results: Among 20 patients, 4 (20%) had a partial response and 14 (66.7%) had stable disease, 11 of which continued for ≥1 year. With gene-wise functional analyses, we detected significant correlation between recurrent NOTCH2 noncoding mutations and clinical response to imatinib. Based on PCAWG data analyses, NOTCH2 mutations affect its expression levels particularly in the presence of CTNNB1 missense mutations. By analyzing RNA-sequencing with additional desmoid tumor samples, we found that NOTCH2 expression was significantly correlated with HES1 expression. Interestingly, NOTCH2 had no statistical power to discriminate responders and non-responders. Instead, HES1 was differentially expressed with statistical significance between responders and non-responders Conclusions: Imatinib was effective and well tolerated for advanced desmoid tumor treatment. Our results show that HES1, regulated by NOTCH2, as an indicator of sensitivity to imatinib, which provides an important therapeutic consideration for desmoid tumor. Trial Registration: ClinicalTrials.gov, NCT02495519, Registered July 13, 2015- Retrospectively registered, https://www.clinicaltrials.gov/ct2/show/NCT02495519

Primary intracranial aggressive fibromatosis arising in sella turcica: illustrative case

BACKGROUND Aggressive fibromatosis is a rare histologically benign but locally infiltrative myofibroblastic tumor. Primary intracranial aggressive fibromatosis (IAF) can exhibit a clinically malignant course. OBSERVATIONS A 22-year-old otherwise healthy woman presented with left painful ophthalmoplegia. Magnetic resonance imaging (MRI) revealed a left sellar tumor with cavernous sinus invasion. Endoscopic transsphenoidal surgery was performed. The lesion could not be totally resected. An inflammatory myofibroblastic tumor was suspected, so steroid pulse therapy was introduced, but it was ineffective. The tumor recurred after a few months, and she complained of visual acuity loss, abducens nerve palsy, trigeminal neuralgia, and panhypopituitarism. The lesion was diagnosed as primary IAF by a pathological review. Gamma Knife radiosurgery was performed, and chemotherapies were introduced but ineffective. Her consciousness was disturbed, and MRI showed hypothalamic invasion of the tumor, occlusion and stenosis of carotid arteries, and cerebral stroke. Palliative care was introduced, and she died 32 months after the onset. The autopsy revealed tumor invasion to the cavernous sinus, optic nerve, hypothalamus, pituitary, and tonsillar herniation due to massive cerebral stroke. LESSONS Radical resection can be impossible in patients with IAF. Radiotherapy and chemotherapy are not always effective for residual lesions. Adjuvant therapy for IAF remains to be explored.