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Zhonghua Bing Li Xue Za Zhi = Chinese... Jan 2023To investigate the clinical, radiological, histological and molecular features and the differential diagnosis of fibrocartilaginous mesenchymoma (FM). Four cases of FM...
To investigate the clinical, radiological, histological and molecular features and the differential diagnosis of fibrocartilaginous mesenchymoma (FM). Four cases of FM diagnosed in the Department of Pathology, the Sixth People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine from 2020 to 2022 were analyzed. Related literature was also reviewed. Case 1 was a 10-year-old girl with bone destruction in the sacrum and L5 articular processes revealed by CT scan. Case 2 was a 7-year-old girl with an aggressive lesion in her right distal ulna. Case 3 was an 11-year-old boy with a lesion in the metaphysis of his left proximal tibia. Case 4 was an 11-year-old boy with bone destruction in the distal portion of a radius. Microscopically, the four tumors all consisted of numerous spindle cells, hyaline cartilage nodules, and bone trabeculae. The hypocellular to moderately cellular spindle cell component contained elongated cells with slightly hyperchromatic, mildly atypical nuclei arranged in bundles or intersecting fascicles. Benign-appearing cartilaginous nodules of various sizes and shapes were scattered throughout the tumors. There were areas mimicking epiphyseal growth-plate characterized by chondrocytes arranged in parallel columns and areas of enchondral ossification. The stroma was rich in mucus in case 1. Mutation of GNAS and IDH1/IDH2 and amplification of MDM2 gene were not found in any of the three tested cases. FM is very rare and tends to affect young patients. It most frequently occurs in the metaphysis of long tubular bones, followed by the iliac-pubic bones and vertebrae. FM is characterized by a mixed population of spindle cells, hyaline cartilage nodules and trabeculae of bone, without specific immunophenotypes and molecular alternations. As a borderline, locally aggressive neoplasm, surgical removal with a wide margin is generally the treatment of choice for FM.
Topics: Humans; Male; Female; Child; Mesenchymoma; China; Osteogenesis; Cartilage; Tomography, X-Ray Computed
PubMed: 36617902
DOI: 10.3760/cma.j.cn112151-20221026-00886 -
Radiographics : a Review Publication of... Jan 2023
Topics: Humans; Mesenchymoma; Soft Tissue Neoplasms
PubMed: 36367823
DOI: 10.1148/rg.220185 -
BMJ Case Reports Nov 2022A man in his 40s was referred with persistent hypophosphataemia and bony pain. A serum fibroblast growth factor 23 level was markedly elevated and a diagnosis of...
A man in his 40s was referred with persistent hypophosphataemia and bony pain. A serum fibroblast growth factor 23 level was markedly elevated and a diagnosis of tumour-induced osteomalacia was considered. Whole body imaging revealed multiple insufficiency fractures but no osseus tumours. There was, however, a durally-based intracranial lesion whose imaging characteristics were consistent with a meningioma. The tumour was removed, leading to rapid normalisation of the patient's symptoms and serum markers. Histology confirmed a phosphaturic mesenchymal tumour. We review the literature regarding this rare clinical situation.
Topics: Male; Humans; Osteomalacia; Paraneoplastic Syndromes; Mesenchymoma; Soft Tissue Neoplasms; Meningeal Neoplasms
PubMed: 36319044
DOI: 10.1136/bcr-2022-252412 -
Journal of Cutaneous Pathology Jun 2023Mesenchymal neoplasms with GLI1 alterations (rearrangements and/or amplification) have been reported recently in several anatomic locations, which include head and neck,...
Mesenchymal neoplasms with GLI1 alterations (rearrangements and/or amplification) have been reported recently in several anatomic locations, which include head and neck, soft tissue, and gastrointestinal tract. Herein, to the best of our knowledge, we describe the first three cases of superficial/subcutaneous mesenchymal neoplasm with GLI1 amplification. The neoplasms exhibited low-grade cytologic features with predominant round cell morphology, glomangioma-like areas and a rich background capillary network. There were two to three mitotic figures per 10 HPF and focal necrosis in one case. The tumors exhibited variable expression of CDK4, MDM2, STAT6, D2-40, CD56 and cyclin D1. p16 had strong and diffuse nuclear and cytoplasmic expression in two cases. Numerous other stains were negative. Fluorescence in situ hybridization detected GLI1, DDIT3, and CDK4 coamplification in all cases, while next generation sequencing did not detect a GLI1 gene fusion. The overall features were compatible with a GLI1-amplified mesenchymal neoplasm. In Case 1 a new distant skin lesion appeared 1 month after the surgery exhibiting similar morphology albeit with a higher mitotic index. In Cases 2 and 3, there is no evidence of local recurrence or systemic disease after 8 years and 1 month of follow-up, respectively. These new cases of superficial GLI1-amplified neoplasm expand its clinical spectrum and enter the realm of dermatopathology. The combination of CDK4, cyclin D1, D2-40, and p16 expression with variable MDM2, STAT6, CD56, and S100 immunoreactivity in a low-grade neoplasm with round/ovoid cytomorphology resembling a vascular or adnexal neoplasm may suggest the possibility of GLI1-amplified neoplasm.
Topics: Humans; Male; Female; Adult; Aged; Zinc Finger Protein GLI1; Gene Amplification; Mesenchymoma; Skin Neoplasms; Glomus Tumor; Mitosis; Neoplasm Recurrence, Local
PubMed: 36316249
DOI: 10.1111/cup.14345 -
World Journal of Clinical Cases Aug 2022A biliary inflammatory myofibroblastic tumor (IMT) is a rare type of mesenchymoma that, although it has a broad age spectrum, usually occurs in adults. Diagnosis is...
BACKGROUND
A biliary inflammatory myofibroblastic tumor (IMT) is a rare type of mesenchymoma that, although it has a broad age spectrum, usually occurs in adults. Diagnosis is difficult because biliary IMTs often exhibit nonspecific clinical symptoms and imaging features, resulting in delayed or inappropriate treatment. Although most IMTs are benign, some show malignant properties such as infiltration, recurrence, and metastasis.
CASE SUMMARY
Here, we retrospectively describe a 10-month-old infant who was admitted to our hospital due to stubborn jaundice. The patient responded poorly to routine medical treatment and his clinical manifestations and laboratory tests lacked specificity, so we turned to repeated ultrasound scans and other imaging examinations. As both hepatosplenic ultrasonography and diffusion-weighted magnetic resonance imaging demonstrated a space-occupying lesion, an exploratory laparotomy was performed. The final diagnosis made over two mo after the disease onset was infant biliary cirrhosis caused by a biliary IMT, which partially infiltrated into the liver. This infant is the youngest case of biliary IMTs that has been reported till now. The patient underwent an incomplete resection of the mass and Kasai Portoenterostomy. However, because of cirrhosis, he also received a paternal liver transplant. Since some IMTs show malignant properties, we proceeded with a three-year of follow-up; however, no recurrence or metastasis has been noted.
CONCLUSION
Neoplastic disease such as IMTs should be considered when routine medical treatment of obstructive jaundice is not successful. Observation of dynamic imaging changes is helpful for diagnosis. Periodic follow-up is necessary for IMTs.
PubMed: 36159551
DOI: 10.12998/wjcc.v10.i23.8375 -
The Journal of Obstetrics and... Dec 2022Histopathologic diagnosis of a subset of uterine smooth muscle tumors is challenging. We report a critical review regarding the clinicopathological point of view of 62... (Review)
Review
AIM
Histopathologic diagnosis of a subset of uterine smooth muscle tumors is challenging. We report a critical review regarding the clinicopathological point of view of 62 cases of subsequently recurred or metastasized leiomyoma.
METHODS
Medical records and glass slides of 62 cases of uterine smooth muscle tumor diagnosed as leiomyoma, which subsequently recurred or metastasized, were critically reviewed by pathologists specializing in gynecologic pathology and oncology.
RESULTS
In 47 (75.8%) of 62 cases, the diagnosis of leiomyoma was confirmed, including 11 intravascular leiomyomatosis (IVL) and benign metastasizing leiomyoma (BML). In 29 cases (46.8%) laparoscopic surgery was performed, of which morcellator without a bag was employed in 23 cases. Fifteen cases (24.2%) appeared to be underestimated and were re-classified as smooth muscle tumor of uncertain malignant potential (STUMP), leiomyosarcoma, or other malignant mesenchymal tumors. Recurrences in seven cases (11.3%) were interpreted to be a malignant transformation, and one STUMP recurred as STUMP.
CONCLUSION
The recurrence or metastasis in cases of "leiomyoma" is attributed to iatrogenic or under-evaluation of primary tumors, although a subset of cases is a rare example of biological progression.
Topics: Female; Humans; Smooth Muscle Tumor; Uterine Neoplasms; Leiomyosarcoma; Leiomyomatosis; Mesenchymoma; Multicenter Studies as Topic
PubMed: 36114691
DOI: 10.1111/jog.15426 -
Skeletal Radiology Apr 2023Fibrocartilaginous mesenchymoma (FM) is a rare bone tumor mimicking other fibrocartilaginous lesions on imaging and histologically. Hence, it is difficult to diagnose...
Fibrocartilaginous mesenchymoma (FM) is a rare bone tumor mimicking other fibrocartilaginous lesions on imaging and histologically. Hence, it is difficult to diagnose this entity especially on small biopsies. In this article, we report a case of FM mimicking desmoplastic fibroma on biopsy. A 36-year-old male presented with pain in the left hip. Imaging showed a large expansile lytic lesion involving the acetabulum and pubis. The differential diagnosis was suggestive of giant cell tumor, aneurysmal bone cyst, intraosseous desmoplastic fibroma, and chondrosarcoma. Biopsy revealed a low-grade spindle cell lesion with no evidence of osteoid or chondroid matrix. The lack of cartilaginous nodules in the biopsy prompted a preoperative diagnosis of desmoplastic fibroma. The excised mass showed bland spindle cell proliferation, benign cartilage nodules, and epiphyseal plate-like enchondral ossification suggestive of fibrocartilaginous mesenchymoma. Negative immunostaining for SATB2, CDK4, and MDM2 ruled out low-grade central osteosarcoma. Though GNAS mutations were not performed in this case, rimming of the bony trabeculae at the periphery of the epiphyseal growth plate-like cartilaginous nodule ruled out fibrous dysplasia. The absence of cartilaginous component misleads the diagnosis preoperatively in small biopsies.
Topics: Male; Humans; Adult; Mesenchymoma; Fibroma, Desmoplastic; Bone Neoplasms; Bone and Bones; Pelvis
PubMed: 36042034
DOI: 10.1007/s00256-022-04167-6 -
Pathologie (Heidelberg, Germany) Jul 2022The recent WHO classification of Bone Tumours (2020) has introduced several changes. Conceptionally, small round cell sarcomas are now summarized in a distinct chapter,...
The recent WHO classification of Bone Tumours (2020) has introduced several changes. Conceptionally, small round cell sarcomas are now summarized in a distinct chapter, acknowledging their occurrence in both, bone and soft tissue. In the light of new molecular findings some diagnostic categories, such as fibrohistiocytic tumors, have been abandoned, and a few new entities have been added to the classification. Finally, systematic changes were made with regard to the terminology employed in the classification of chondrogenic tumours, and modifications have been made with respect to the biological potential of some lesions. This article summarizes the major changes made, underscoring the elementary role of an interdisciplinary approach in the diagnosis and management of bone lesions.
Topics: Bone Neoplasms; Humans; Sarcoma, Small Cell; World Health Organization
PubMed: 35925224
DOI: 10.1007/s00292-022-01079-z -
Neuropathology : Official Journal of... Oct 2022Most osteomalacia-inducing tumors (OITs) are phosphaturic mesenchymal tumors (PMTs) that secrete fibroblast growth factor 23 (FGF23). These tumors usually occur in the... (Review)
Review
Most osteomalacia-inducing tumors (OITs) are phosphaturic mesenchymal tumors (PMTs) that secrete fibroblast growth factor 23 (FGF23). These tumors usually occur in the bone and soft tissues, and intracranial OITs are rare. Therefore, intracranial OIT is difficult to diagnose and treat. This paper presents a case of intracranial OIT and shows a review of previous cases. A 45-year-old man underwent nasal cavity biopsy and treatment with active vitamin D and neutral phosphate for hypophosphatemia. Amplification of FGF23 mRNA level within the tumor was detected. Subsequently, the surgical specimen was diagnosed with a PMT and was considered the cause of the patient's osteomalacia. The patient was referred to a neurosurgery department for the excision of the intracranial tumor extending to the nasal cavity. After tumor removal, the serum levels of FGF23 and phosphorus were normalized as compared to preoperative those. The patient remains disease-free, without additional treatment, approximately 10 years after surgery, with no tumor recurrence. As per the literature, intracranial OITs usually occur in patients aged 8-69 years. Bone and muscle pain are major complaints. Approximately 60% of the patients reported previously had symptoms because of intracranial tumors. In some cases, it took several years to diagnose OIT after the onset of the osteomalacia symptoms. Laboratory data in such cases show hypophosphatemia and elevated FGF23 levels. Because FGF23 levels are associated with the severity of osteomalacia symptoms, total tumor resection is recommended. PMT and hemangiopericytoma (HPC) are histologically similar, but on immunochemistry, PMT is negative for signal transducer and activator of transcription 6 (STAT6), whereas HPC is positive. FGF23 amplification is seen in PMTs but not in HPCs. Therefore, the analysis of FGF23 and STAT6 was helpful in distinguishing PMTs from HPCs. In cases of hypophosphatemia and osteomalacia without a history of metabolic, renal, or malabsorptive diseases, the possibility of oncogenic osteomalacia should be considered.
Topics: Brain Neoplasms; Fibroblast Growth Factors; Hemangiopericytoma; Humans; Hypophosphatemia; Male; Mesenchymoma; Middle Aged; Neoplasm Recurrence, Local; Neoplasms, Connective Tissue; Osteomalacia; Phosphates; Phosphorus; RNA, Messenger; STAT6 Transcription Factor; Soft Tissue Neoplasms; Vitamin D
PubMed: 35880350
DOI: 10.1111/neup.12817 -
Computational and Mathematical Methods... 2022The aim of this study was to explore the application of computed tomography (CT) images in the diagnosis of gastric tumor under the intelligent reconstruction algorithm...
The aim of this study was to explore the application of computed tomography (CT) images in the diagnosis of gastric tumor under the intelligent reconstruction algorithm (IRA). 120 patients with gastric cancer were selected and all the patients underwent CT scanning, and CT images were analyzed based on the Feldkamp-Davis-Kress algorithm (FDK algorithm) to evaluate the imaging features of gastric lesions. According to biopsy or surgical pathology, the detection rate of CT images was calculated. The results showed that there were three pathological types of benign tumors (polyps, leiomyomas, and mesenchymomas) and three pathological types of malignant tumors (mesenchymomas, adenomas, and lymphomas). In addition, the detection rates of CT scans were different, reaching 94.2% on different orientations of the stomach, 90.7% of benign tumors, and 90.9% of malignant tumors, so the detection rate of different orientations was relatively high. CT images based on the FDK IRA could realize a high detection rate in diagnosis, accurately locate the lesion, and display the characteristics of the lesion and the metastasis of surrounding tissues; there were significant differences between benign and malignant gastric tumors in CT images, and the detection effect was obvious, which is worthy of clinical application and promotion.
Topics: Algorithms; Humans; Mesenchymoma; Phantoms, Imaging; Stomach Neoplasms; Tomography, X-Ray Computed
PubMed: 35799664
DOI: 10.1155/2022/8179766