Rare desmoid-type fibromatosis of the breast in young female patients: a description of three cases and literature analysis.
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SUBMITTER: Tao Y
PROVIDER: S-EPMC11007534 | biostudies-literature | 2024 Apr
REPOSITORIES: biostudies-literature
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Rare desmoid-type fibromatosis of the breast in young female patients: a description of three cases and literature analysis.
Tao Yi Y Zeng Keyu K Wan Xue X Wen Wen W Chen Hongyan H Peng Yulan Y
Quantitative imaging in medicine and surgery 20240313 4
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Project description:BackgroundBreast desmoid-type fibromatosis (BDF) is a rare mesenchymal tumor accounting for only 0.2% of solid breast tumors. It is classified as an intermediate tumor because it is locally aggressive but has no metastatic potential. Its diagnosis is often difficult because it shares many clinical and radiologic aspects with breast carcinomas and therefore relies on anatomopathological analysis which may be supplemented by genetic analysis. The treatment of BDF has considerably evolved in the past years. While surgery was the cornerstone of the management prior to the 2000s, recent data have shown the value of active surveillance (AS) from the time of diagnosis. Indeed, after 2 years of AS, the progression-free survival (PFS) of the disease is identical or superior to surgery. Moreover, spontaneous regression has been observed in 30% of patients undergoing AS. In case of disease progression, surgery can be considered on a case-by-case basis, as well as systemic treatments.Case descriptionWe present a case of bilateral BDF affecting a 20-year-old woman for whom the first suggested treatment was bilateral mastectomy with reconstruction. After a second opinion, the decision was revised and AS was initiated. Almost 3 years after the onset of AS, tumors have shown a continuous regression.ConclusionsThis case demonstrates the need for experience in the management of mesenchymal tumors to avoid overtreatment by mutilating surgeries which promote recurrence. Moreover, to our knowledge, very few cases of bilateral BDF have been published to date. It thus seemed relevant for us to report this rare case which supports the interest of AS for DF, as recently advised by the Desmoid Tumor Working Group guidelines.
| S-EPMC9742053 | biostudies-literature
Project description:Mammary fibromatosis is a rare and locally aggressive benign tumor of the breast; it originates from fibroblasts and myofibroblasts within the breast parenchyma and does not metastasize. The condition is locally aggressive and has a high rate of recurrence. The etiology of mammary fibromatosis is unknown. Breast imaging examinations are not specific for fibromatosis and often imitate breast cancer. The current study presents 2 cases of women with breast fibromatosis, the first of which exhibited a locally advanced aggressive form of the disease, where breast surgery and en bloc resection of the underlying regions of the thoracic wall were required. In the second case, breast imaging examinations suggested an invasive breast tumor, probably carcinoma, infiltrating the muscles of the chest wall. An ultrasound-guided core needle biopsy revealed a low-grade myofibroblastic proliferation consistent with breast fibromatosis. The patient underwent a right quadrantectomy, with a partial resection of the underlying musculature. The patients remain disease-free at the time of writing. As involvement of the breast in patients with desmoid-like fibromatosis as rare, the present study reports 2 cases with clinical features and histological findings in order to improve and add to the knowledge of this disease.
| S-EPMC5529872 | biostudies-other
Project description:Desmoid-type fibromatosis (DTF) is a rare, soft tissue tumor of mesenchymal origin which is characterized by local infiltrative growth behavior. Besides "wait and see," surgery and radiotherapy, several systemic treatments are available for symptomatic patients. Recently, targeted therapies are being explored in DTF. Unfortunately, effective treatment is still hampered by the limited knowledge of the molecular mechanisms that prompt DTF tumorigenesis. Many studies focus on Wnt/β-catenin signaling, since the vast majority of DTF tumors harbor a mutation in the CTNNB1 gene or the APC gene. The established role of the Wnt/β-catenin pathway in DTF forms an attractive therapeutic target, however, drugs targeting this pathway are still in an experimental stage and not yet available in the clinic. Only few studies address other signaling pathways which can drive uncontrolled growth in DTF such as: JAK/STAT, Notch, PI3 kinase/AKT, mTOR, Hedgehog, and the estrogen growth regulatory pathways. Evidence for involvement of these pathways in DTF tumorigenesis is limited and predominantly based on the expression levels of key pathway genes, or on observed clinical responses after targeted treatment. No clear driver role for these pathways in DTF has been identified, and a rationale for clinical studies is often lacking. In this review, we highlight common signaling pathways active in DTF and provide an up-to-date overview of their therapeutic potential.
| S-EPMC6534064 | biostudies-literature
Project description:ObjectiveTo demonstrate the feasibility of percutaneous microwave ablation in desmoid fibromatosis with respect to tumor volume control and improvement in the quality of life.Materials and methodsTwelve microwave ablations were performed in 9 patients with a histological diagnosis of desmoid fibromatosis between January 2010 and January 2019. The study population included 6 female and 3 male, with an age range of 21-76 years (mean = 46.6 years; standard deviation [SD] = 19.3 years). The mean major axis of the tumors was 10.9 cm (SD = 5.2 cm) and mean lesion volume was 212.7 cm³ (SD = 213 cm³). Their anatomical distribution was as follows: 3 lesions in the thigh, 2 in the gluteus, 2 in the leg and 2 in the periscapular region. We evaluated the reduction in tumor volume and improvement in the quality of life based on the Eastern Cooperative Oncology Group (ECOG) scale.ResultsAn average tumor volume reduction of 70.4% (SD = 24.9) was achieved, while the quality of life (ECOG scale) improved in 88.9% of patients.ConclusionPercutaneous microwave ablation may potentially be a safe, effective, and promising technique for controlling tumor volume and improving the quality of life in patients with desmoid fibromatosis.
| S-EPMC8154784 | biostudies-literature
Project description:Desmoid fibromatosis is a rare but locally aggressive tumor comprised of myofibroblasts. Desmoids do not have the ability to metastasize but can cause significant morbidity and mortality by local invasion. These tumors may occur throughout the body, but are commonly found on the abdominal wall and within the intestinal mesentery. Desmoids in these areas may cause unique clinical problems for physicians and patients. Mutations in either the β-catenin or the APC genes are usually the cause for the development of these tumors with the former comprising the sporadic development of tumors and the latter being associated with familial adenomatous polyposis syndrome. Surgical resection with histologically negative margins has been the cornerstone of therapy for this disease, but this paradigm has begun to shift. It is now common to accept a microscopically positive margin after resection as recurrence rates may not be significantly affected. An even more radical evolution in management has been the recent movement towards "watchful waiting" when new desmoids are diagnosed. As the natural history of desmoids has become better understood, it is evident that some tumors will not grow and may even spontaneously regress sparing patients the morbidity of more aggressive therapy. Other modalities of treatment for desmoids include radiation and systemic therapy which both can be used adjuvantly or as definitive therapy and have shown durable response rates as single therapy regimens. The decision to use radiation and/or systemic therapies is often based on tumor biology, tumor location, surgical morbidity, and patient preference. Systemic therapy options have increased to include hormonal therapies, non-steroidal anti-inflammatory drugs and chemotherapy, as well as targeted therapies. Unfortunately, the rarity of this disease has resulted in a scarcity of randomized trials to evaluate any of these therapies emphasizing the need for this disease to be treated at high volume multidisciplinary institutions.
| S-EPMC5315078 | biostudies-literature
Project description:Desmoid-type fibromatosis (DTF, aggressive fibromatosis) is a non-metastasizing mesenchymal neoplasm of deep soft tissue with a tendency towards local recurrence. Genetic alterations affecting canonical Wnt/β-catenin signaling are reported in the majority of DTF. While most sporadic DTF harbor somatic mutations in CTNNB1, germline mutations in adenomatous polyposis coli (APC) are known to occur in hereditary DTF types (FAP, Gardner-Syndrome). Additional single nucleotide variants (SNVs) in AKT1 (E17K) and BRAF (V600E) were reported in pediatric DTF with potential clinical implications. We performed targeted next-generation sequencing (NGS) in a large cohort of 204 formalin-fixed DTF samples, comprising 22 pediatric cases (patients age ≤18 years). The mutational status was correlated with clinicopathological characteristics. Overall, deleterious CTNNB1 mutations were detected in 89% of DTF, most frequently affecting the serine/threonine phosphorylation sites T41 and S45 of β-catenin. While the T41A CTNNB1 mutation was significantly more often identified in the mesenterial localization, DTF originating from extra-intestinal sites more frequently harbored the S45P CTNNB1 alteration. Beyond common mutations in CTNNB1, additional SNVs were demonstrated in 7% of the DTF cohort and in 18% of the pediatric DTF subgroup. The mutational spectrum included deleterious mutations in AKT1 (G311S/D and T312I), ALK (R806H and G924S), AR (A159T), EGFR (P848L), ERBB2 (H174Y), IDH2 (H354Y), KIT (V559D), RET (T1038A), SDHA (R325M), and SDHD (R115W), as characterized by in silico prediction tools. In conclusion, our study indicates that DTF may harbor a broader mutational spectrum beyond CTNNB1 mutations, comprising targetable alterations including the herewith first reported imatinib-sensitive KIT V559D mutation in DTF.
| S-EPMC7042250 | biostudies-literature
Project description:Desmoid type fibromatosis (DTF) is a rare benign tumor of connective tissue origin. While these tumors are typically not malignant, they can exhibit aggressive growth patterns causing mass effect on surrounding organs. These tumors typically present in the extremities and abdominal wall, rarely occurring in the mesentery, and abdominal organs. Due to the rarity of this tumor and the variable size and origin, it is difficult to provide exact prognosis, recurrence, and treatment efficacy regarding desmoid tumors arising from the ileocolic mesentery. We present a case of a young male with a sporadic 31 × 25 × 12 cm DTF arising from the ileocolic mesentery that was complicated by mass effect on bowel and intra-abdominal organs requiring surgical intervention. On presentation, the patient exhibited weight gain and abdominal pressure. Abdominal distension without tenderness on palpation was noted on physical examination. The tumor biopsy confirmed the diagnosis of DTF. No evidence of familial adenomatous polyposis or Gardner syndrome was identified. The tumor was surgically excised and intimately associated with the bowel requiring ileocolonic resection with primary anastomosis. At 3-months follow up, surveillance MRI showed no residual or recurrent lesion. A multi-disciplinary approach to this patient's diagnosis and treatment allowed for an accurate diagnosis, efficient treatment, and follow up plan.
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Project description:Coffin-Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides-Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562). At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in SMARCE1. We report here three additional individuals with clinical features consistent with CSS and alterations in SMARCE1, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, SMARCE1 is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. © 2016 Wiley Periodicals, Inc.
| S-EPMC5870868 | biostudies-literature
Project description:Juvenile hyaline fibromatosis (JHF) is a rare recessive autosomal hereditary disorder characterized by papulonodular skin, gingival hyperplasia, flexural joint contractures, and osteolytic bone lesions. Worldwide, less than 70 cases have been reported. JHF is thought to be a disorder of collagen metabolism which is caused by genomic sequence variations in the ANTXR2/CMG2 gene and is characterized by homogenous amorphous hyaline material and fibrous tissue. JHF is most commonly diagnosed in infants and in children less than 5 years. We report a 28-month-old child of a consanguineous marriage who presented with severe gingival hyperplasia, multiple facial nodules, posterior occipital tumors, joint contractures, and osteolytic bone lesions. His limbs and fingers cannot be straightened, with a posture of frog pose. The occlusal and incisal surfaces of the teeth were completely covered with the gingival overgrowth. The gingival hypertrophy and facial swellings were surgically removed, with pathological features of monomorphic spindled cell proliferation surrounded by an abundant amorphous hyaline matrix. The genome sequencing was performed that a homozygous nucleotide mutation of ANTXR2/CMG2 gene was found. We outline this particular patient's presentation, followed by a discussion highlighting the characteristics that change with the condition and the treatments of this disease. The treatment of JHF is generally symptomatic treatment and requires multidisciplinary care. Physical rehabilitation has been advocated for a lifetime.
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Project description:Desmoid-type fibromatosis (DF), also known as deep fibromatosis or desmoid tumor, is an extremely rare neoplasm that develops from fascia and musculoaponeurotic tissue. These tumors are characterized by slow progressive growth, local invasion, and local recurrence after surgical excision, but they lack metastatic potential. DF accounts for 3.5% of all fibrous tumors, with an annual incidence of approximately 2-4/million. Until now, only a small number of cases have been found in the chest wall. Herein, we present a rare case of chest wall DF in a 43-year-old female, which was discovered accidentally due to a thoracic wall mass that extended outward from the sternum. Computed tomography scans revealed a subcutaneous soft tissue mass anterior to the sternum, which was considered to be a mesenchymal tumor or an inflammatory lesion. The patient underwent surgical excision of the mass. The mass was completely removed and all margins were negative. According to the pathological results, the patient was finally diagnosed as DF. Postoperative radiotherapy was suggested subsequently, especially considering the locally aggressive and infiltrative nature of the tumor. However, this was rejected by the patient, and biannual re-examination was recommended instead. Despite the absence of postoperative radiotherapy, there was no evidence of local recurrence 2 years later. We consider regular postoperative follow-up may be able to replace postoperative radiotherapy, and if there exist an opportunity to completely resect the mass, surgical is a worthwhile choice.
| S-EPMC7661858 | biostudies-literature