-
Journal of Imaging May 2024Desmoid tumors (DTs) are non-metastasizing and locally aggressive soft-tissue mesenchymal neoplasms. Those that become enlarged often become locally invasive and cause...
Desmoid tumors (DTs) are non-metastasizing and locally aggressive soft-tissue mesenchymal neoplasms. Those that become enlarged often become locally invasive and cause significant morbidity. DTs have a varied pattern of clinical presentation, with up to 50-60% not growing after diagnosis and 20-30% shrinking or even disappearing after initial progression. Enlarging tumors are considered unstable and progressive. The management of symptomatic and enlarging DTs is challenging, and primarily consists of chemotherapy. Despite wide surgical resection, DTs carry a rate of local recurrence as high as 50%. There is a consensus that contrast-enhanced magnetic resonance imaging (MRI) or, alternatively, computerized tomography (CT) is the preferred modality for monitoring DTs. Each uses Response Evaluation Criteria in Solid Tumors version 1.1 (RECIST 1.1), which measures the largest diameter on axial, sagittal, or coronal series. This approach, however, reportedly lacks accuracy in detecting response to therapy and fails to detect tumor progression, thus calling for more sophisticated methods. The objective of this study was to detect unique features identified by deep learning that correlate with the future clinical course of the disease. Between 2006 and 2019, 51 patients (mean age 41.22 ± 15.5 years) who had a tissue diagnosis of DT were included in this retrospective single-center study. Each had undergone at least three MRI examinations (including a pretreatment baseline study), and each was followed by orthopedic oncology specialists for a median of 38.83 months (IQR 44.38). Tumor segmentations were performed on a T2 fat-suppressed treatment-naive MRI sequence, after which the segmented lesion was extracted to a three-dimensional file together with its DICOM file and run through deep learning software. The results of the algorithm were then compared to clinical data collected from the patients' medical files. There were 28 males (13 stable) and 23 females (15 stable) whose ages ranged from 19.07 to 83.33 years. The model was able to independently predict clinical progression as measured from the baseline MRI with an overall accuracy of 93% (93 ± 0.04) and ROC of 0.89 ± 0.08. Artificial intelligence may contribute to risk stratification and clinical decision-making in patients with DT by predicting which patients are likely to progress.
PubMed: 38786576
DOI: 10.3390/jimaging10050122 -
Expert Review of Anticancer Therapy Jun 2024APC-associated polyposis is a rare hereditary disorder characterized by the development of multiple adenomas in the digestive tract. Individuals with APC-associated... (Review)
Review
INTRODUCTION
APC-associated polyposis is a rare hereditary disorder characterized by the development of multiple adenomas in the digestive tract. Individuals with APC-associated polyposis need to be managed by specialized multidisciplinary teams in dedicated centers.
AREAS COVERED
The study aimed to review the literature on Familial adenomatous polyposis (FAP) to provide an update on diagnostic and surgical management while focusing on strategies to minimize the risk of desmoid-type fibromatosis, cancer in anorectal remnant, and postoperative complications. FAP individuals require a comprehensive approach that includes diagnosis, surveillance, preventive surgery, and addressing specific extracolonic concerns such as duodenal and desmoid tumors. Management should be personalized considering all factors: genotype, phenotype, and personal needs. Total colectomy and ileo-rectal anastomosis have been shown to yield superior QoL results when compared to Restorative Procto colectomy and ileopouch-anal anastomosis with acceptable oncological risk of developing cancer in the rectal stump if patients rigorously adhere to lifelong endoscopic surveillance. Additionally, a low-inflammatory diet may prevent adenomas and cancer by modulating systemic and tissue inflammatory indices.
EXPERT OPINION
FAP management requires a multidisciplinary and personalized approach. Integrating genetic advances, innovative surveillance techniques, and emerging therapeutic modalities will contribute to improving outcomes and quality of life for FAP individuals.
Topics: Humans; Adenomatous Polyposis Coli; Quality of Life; Colectomy; Postoperative Complications; Patient Care Team; Precision Medicine; Phenotype; Genotype; Fibromatosis, Aggressive
PubMed: 38785081
DOI: 10.1080/14737140.2024.2344649 -
Journal of Orthopaedic Case Reports May 2024Thoracic myelopathy in neuro fibromatosis-1 (NF-1) is most commonly due to intra-spinal neurofibromas/dumb-bell tumors/intra-canal rib head penetration (RHP) causing...
INTRODUCTION
Thoracic myelopathy in neuro fibromatosis-1 (NF-1) is most commonly due to intra-spinal neurofibromas/dumb-bell tumors/intra-canal rib head penetration (RHP) causing cord compression. However, acute thoracic myelopathy due to rapid progression of the kyphoscoliotic curve alone in NF-1 without a significant spinal cord compression occurs very rarely. This case report discusses our experience with one such patient and we also discuss intraoperative and post-operative challenges encountered with this patient and a rare complication of hemothorax postoperatively.
CASE REPORT
A 15-year-old male presented to the clinic after being lost to follow-up for 4 years with a rapid acute deterioration of dystrophic curve and no myelopathic symptoms (Scoliosis - 65°, Kyphosis - 77°). His subsequent examination in 6 weeks showed acute development of myelopathic gait with right ankle and extensor hallucis longus weakness. He was admitted for halo gravity traction for 6 weeks and a single-stage posterior instrumentation with excision of rib heads at the apex was planned. Postoperatively, the patient developed massive left hemothorax and loss of power in both lower limbs at day 2. He subsequently regained full power and complete resolution of myelopathic symptoms at the end of 9- month follow-up with a satisfactory alignment of spine in the follow-up X-rays.
CONCLUSION
Acute onset of myelopathy is a rare and uncommon finding with a rapid deterioration of dystrophic curve alone without any major spinal cord compromise. Early detection of dysplastic changes with early aggressive surgical management and deformity correction is necessary with dystrophic NF-1 curves to prevent pre-operative and post-operative morbidities.
PubMed: 38784888
DOI: 10.13107/jocr.2024.v14.i05.4428 -
Plastic and Reconstructive Surgery.... May 2024A 13-year-old girl with a painful left neck mass was referred to our institution due to suspicions of malignancy. The patient reported pain that accompanied her frequent...
A 13-year-old girl with a painful left neck mass was referred to our institution due to suspicions of malignancy. The patient reported pain that accompanied her frequent neck spasms. Computed tomography revealed a large, soft-tissue mass in the left neck, deep to the sternocleidomastoid. The lesion anteriorly displaced the internal carotid artery and both displaced and crushed the internal left jugular vein. Uniquely, a three-dimensional virtual reality model combining magnetic resonance imaging and computed tomography data was used to determine the lesion's resectability and visualize which structures would be encountered or require protection while ensuring total resection. During operation, we confirmed that the mass also laterally displaced the brachial plexus, cranial nerves X and XI, and spinal nerves C3-C5 (including the phrenic) of the cervical plexus. Postsurgical pathological analysis confirmed a diagnosis of desmoid tumor, also known as aggressive fibromatosis, whereas DNA sequencing revealed a mutation, a somatic genetic marker found in approximately 90% of desmoid tumor cases. When possible, the most widely used method for the treatment of desmoid tumors has been gross resection. Chemotherapy, radiotherapy, and local excision are also used in the treatment of fibromatoses when complete resection is judged infeasible. In this case, a complete surgical resection with tumor-free surgical margins was performed. A standard cervical approach with a modified posterolateral incision site was implemented to avoid a conspicuous anterior neck scar. No flap, nerve repair, or reconstruction was warranted. At 1 year of postsurgical follow-up, the patient showed minimal scarring and no signs of recurrence.
PubMed: 38784831
DOI: 10.1097/GOX.0000000000005763 -
Asian Journal of Surgery May 2024
PubMed: 38772823
DOI: 10.1016/j.asjsur.2024.05.061 -
Journal of Breast Cancer Jun 2024Breast implant augmentation is a low-risk procedure with few life-threatening complications, most commonly rupture or leakage and contraction of the capsule. Breast...
Breast implant augmentation is a low-risk procedure with few life-threatening complications, most commonly rupture or leakage and contraction of the capsule. Breast implant-associated (BIA) malignancies are rare. Anaplastic large cell lymphoma (ALCL) is the most well-known neoplastic condition associated with breast augmentation. Carcinomas arising in association with implants have been reported but are rarer than ALCL. BIA-mesenchymal tumors are extremely rare and most are locally aggressive fibromatosis. To date, only eight cases of BIA sarcomas have been reported. Herein, we describe a case of silicone BIA-undifferentiated pleomorphic sarcoma (UPS) that was initially mistaken for ALCL because of a significant clinical and radiological overlap in presentation and imaging. Here, we present the morphological and molecular features of this rare neoplasm. We reviewed the existing literature related to BIA sarcomas to highlight the importance of considering this diagnosis in cases of recurrent ALCL-negative BIA effusions.
PubMed: 38769688
DOI: 10.4048/jbc.2024.0054 -
European Journal of Cancer (Oxford,... Jul 2024Sorafenib and pazopanib, two tyrosine kinase inhibitors (TKI), are widely used in patients with progressive symptomatic desmoid tumors (DT). Limited real-word data is...
BACKGROUND
Sorafenib and pazopanib, two tyrosine kinase inhibitors (TKI), are widely used in patients with progressive symptomatic desmoid tumors (DT). Limited real-word data is available on long-term outcomes of patients who progressed on, stopped, or continued TKIs.
METHODS
Patients diagnosed with DTs and treated with sorafenib or pazopanib between 2011 and 2022 at 11 institutions were reviewed. Patient history, response to therapy and toxicity were recorded. Statistical analyses utilized Kaplan-Meier and log-rank tests.
RESULTS
142 patients with DT treated with sorafenib (n = 126, 88.7 %) or pazopanib (n = 16, 11.3 %) were analyzed. The median treatment duration was 10.8 months (range: 0.07- 73.9). The overall response rate and the disease control rate were 26.0 % and 95.1 %, respectively. The median tumor shrinkage was - 8.5 % (range -100.0 %- +72.5 %). Among responders, the median time to an objective response was 15.2 months (range: 1.1 to 33.1). The 1-year and 2-year progression-free survival rates were 82 % and 80 %. Dose reductions were necessary in 34 (23.9 %) patients. Grade 3 or higher adverse events were reported in 36 (25.4 %) patients. On the last follow-up, 55 (38.7 %) patients continued treatment. Treatment discontinuation (n = 85, 59.9 %) was mainly for toxicity (n = 35, 45.9 %) or radiological or clinical progression (n = 30, 35.3 %). For the entire cohort, 36 (25.4 %) patients required subsequent treatment. In the 32 responders, only 1 (3.1 %) patient required a subsequent treatment. In patients who discontinued TKI, 25 (44.6 %) with stable disease received subsequent treatment compared to 0 (0.0 %) of responders.
CONCLUSION
This retrospective study represents the largest cohort of DT patients treated with sorafenib or pazopanib to date. Discontinuation of treatment in responders is safe. The optimal treatment duration in patients with stable disease remains to be defined.
Topics: Humans; Indazoles; Sorafenib; Sulfonamides; Male; Female; Pyrimidines; Middle Aged; Adult; Aged; Young Adult; Fibromatosis, Aggressive; Adolescent; Retrospective Studies; Aged, 80 and over; Progression-Free Survival; Protein Kinase Inhibitors; Antineoplastic Combined Chemotherapy Protocols; Treatment Outcome
PubMed: 38759389
DOI: 10.1016/j.ejca.2024.114119 -
Genes, Chromosomes & Cancer May 2024Superficial fibromas are a group of mesenchymal spindle cell lesions with pathomorphological heterogeneity and diverse molecular backgrounds. In part, they may be...
Superficial fibromas are a group of mesenchymal spindle cell lesions with pathomorphological heterogeneity and diverse molecular backgrounds. In part, they may be indicators of an underlying syndrome. Among the best-known entities of superficial fibromas is Gardner fibroma, a plaque-like benign tumor, which is associated with APC germline mutations and occurs in patients with familial adenomatosis polyposis (Gardner syndrome). Affected patients also have an increased risk to develop desmoid fibromatosis (DTF), a locally aggressive neoplasm of the deep soft tissue highly prone to local recurrences. Although a minority of DTFs occur in the syndromic context and harbor APC germline mutations, most frequently their underlying molecular aberration is a sporadic mutation in Exon 3 of the CTNNB1 gene. Up to date, a non-syndromic equivalent to Gardner fibroma carrying a CTNNB1 mutation has not been defined. Here, we present two cases of (sub-)cutaneous tumors with a hypocellular and collagen-rich Gardner fibroma-like appearance and pathogenic, somatic CTNNB1 mutations. We aim to differentiate these tumors from other fibromas according to their histological appearance, immunohistochemical staining profile and underlying somatic CTNNB1 mutations. Furthermore, we distinguish them from locally aggressive desmoid fibromatosis regarding their biological behavior, prognosis and indicated therapeutic strategies. Consequently, we call them CTNNB1-mutated superficial fibromas as a sporadic counterpart lesion to syndromic Gardner fibromas.
Topics: Humans; beta Catenin; Fibroma; Male; Female; Mutation; Middle Aged; Fibromatosis, Aggressive; Adult; Gardner Syndrome; Germ-Line Mutation
PubMed: 38757718
DOI: 10.1002/gcc.23247 -
World Journal of Oncology Jun 2024Desmoid fibromatosis of the breast (also known as desmoid tumor of the breast) is a rare entity infrequently encountered by oncologists and surgeons caring for patients... (Review)
Review
Desmoid fibromatosis of the breast (also known as desmoid tumor of the breast) is a rare entity infrequently encountered by oncologists and surgeons caring for patients with breast disease. The current body of literature is highly reliant on case series and extrapolations from other sites of desmoid tumor-related disease. Much remains unclear regarding the pathological origins, natural history, and response to treatment of this condition. Traditional treatment strategies have centered on surgical resection, which may result in significantly disfiguring cosmetic and functional outcomes, frequent need for re-operation, and associated morbidity. There are limited data to support the superiority of upfront surgical resection when compared to medical therapy or watchful waiting strategies. Current treatment guidelines for desmoid tumors do not focus on the breast as a site of disease and are purposefully ambiguous due to the paucity of evidence available. We aim to review the literature concerning desmoid fibromatosis of the breast and propose an algorithm for current evidence-based management of this rare disease in the context of our experience with this pathology at a high-volume quaternary referral center.
PubMed: 38751692
DOI: 10.14740/wjon1844 -
Asian Journal of Neurosurgery Mar 2024Desmoid tumors are locally aggressive, benign neoplasms originating in connective tissues. Although the exact pathophysiology remains unknown, antecedent trauma or...
Desmoid tumors are locally aggressive, benign neoplasms originating in connective tissues. Although the exact pathophysiology remains unknown, antecedent trauma or surgery are believed to be important contributing factors. The occurrence of paraspinal desmoid tumor in pediatric patients is extremely uncommon. Here, we present an exceedingly rare case of a pediatric patient with no surgical or family history who developed a paraspinal desmoid tumor. A 9-year-old female patient presented with 4 months of progressive back pain, right lower extremity weakness, and numbness. Spinal imaging revealed a left epidural paraspinal mass compressing her thoracic spinal cord and extending into the left thoracic cavity. A multidisciplinary approach with neurosurgery and thoracic surgery enabled gross total resection of the lesion. The patient had complete resolution of her symptoms with no signs of residual tumor on postoperative imaging. Pathology revealed a desmoid tumor that avidly stained for beta-catenin. On her last follow-up, she developed a recurrence, to which she was started on sorafenib therapy. Desmoid tumors are rare connective tissue neoplasms that often occur after local tissue trauma, such as that caused by surgery. This report presents a rare case of a pediatric paraspinal desmoid tumor that occurred in a patient with no surgical or family history. Such tumors should undergo surgical resection for symptomatic relief and tissue diagnosis. Close clinical and radiographic surveillance are essential in these patients due to the high recurrence rates of desmoid tumor.
PubMed: 38751393
DOI: 10.1055/s-0043-1771366