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The American Journal of Case Reports Feb 2024BACKGROUND Phosphaturic mesenchymal tumor (PMT) is an extremely rare mesenchymal neoplasm that is commonly seen in bone and soft tissue. It is associated with a...
BACKGROUND Phosphaturic mesenchymal tumor (PMT) is an extremely rare mesenchymal neoplasm that is commonly seen in bone and soft tissue. It is associated with a paraneoplastic syndrome, oncogenic osteomalacia, due to tumor-induced urinary phosphate wasting. It is demonstrated to be predominantly mediated by fibroblast growth factor 23 (FGF23)/fibroblast growth factor receptor 1 (FGFR1) axis. Clinically, PMT usually presents as a solitary lesion in the bone. The diagnosis of PMT is challenging due to its non-specific clinical manifestation, radiologic findings, and morphological features. CASE REPORT We report the case of a 50-year-old man presenting with multiple lytic bone lesions and associated pathologic fracture of the right femur, clinically suspicious for multiple myeloma or other metastatic malignant process. Resection from the right femur showed a hypercellular lesion composed of oval-to-spindled cells infiltrating the native trabecular bone with admixed multinucleated giant cells. Immunohistochemical (IHC) staining and in situ hybridization (ISH) demonstrated the tumor cells were positive for SATB2, ERG, FGFR1, and FGF23 ISH. DNA and RNA next-generation sequencing showed marked increases in mRNA levels of FGF23 and FGFR1. The constellation of clinicoradiologic, histomorphologic, IHC, and molecular findings supported a diagnosis of primary benign PMT. CONCLUSIONS This case report discusses a patient with PMT presenting with multifocal lesions due to tumor-induced osteomalacia at initial presentation. We hope that this report will increase the awareness of clinician and pathologists of PMT as a differential diagnosis in patients presenting with multifocal lytic bone lesions. In turn, this will prevent misdiagnosis and overtreatment of a typically benign process.
Topics: Male; Humans; Middle Aged; Neoplasms, Connective Tissue; Soft Tissue Neoplasms; Mesenchymoma; Lower Extremity; Femur; Paraneoplastic Syndromes; Osteomalacia
PubMed: 38361352
DOI: 10.12659/AJCR.942810 -
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 -
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 -
Head and Neck Pathology Dec 2022Nasal chondromesenchymal hamartoma (NCMH) is a very rare, benign sinonasal tract tumor commonly affecting infants. In this paper, in addition to presenting a systematic... (Review)
Review
Nasal chondromesenchymal hamartoma (NCMH) is a very rare, benign sinonasal tract tumor commonly affecting infants. In this paper, in addition to presenting a systematic review of the literature on NCMH, we also report an unusual case of NCMH in an adolescent patient. A systematic review conducted following the PRISMA guidelines. PubMed, EMBASE and manual search through references of relevant publication were utilised to gather all published case-reports of NCMH. Data collected from each case-report for patient demographics, site and size of NCMH, clinical presentation, co-morbidities, diagnostic methods, treatment options and follow-up methods. The systemic review collected sixty-two case-reports of NCMH (including our case) affecting 42 men and 21 women (2:1 male to female ratio). Mean average age was 5.1 years (age range: 1 day to 70 years). The anatomical sites of the tumor were: nasal cavity (n = 17), paranasal sinuses (n = 30), orbital region (n = 17), and the base of the skull (n = 16). The reported clinical manifestations were nasal obstruction or congestion (n = 29), nasal mass (n = 27), epistaxis (n = 6), orbital symptoms (n = 14). NCMH is a very rare cause of nasal masses in infants and toddlers. Our case and previous case reports confirm that NCMH can mimic other benign and malignant tumors, therefore we should be vigilant for rare pathologies that lead to nasal masses. Recently the link between DIECR1 mutation with NCMH has been established, so NCMH should be considered in any patient with nasal or orbital symptoms with a history of DICER1-related tumor spectrum.
Topics: Female; Male; Humans; Adolescent; Child, Preschool; Infant; Neoplasms; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 35507301
DOI: 10.1007/s12105-022-01452-7 -
BMJ Case Reports Feb 2022Lipoblastoma is a rare benign mesenchymal tumour derived from embryonic white fat tissue. Lipoblastoma generally occurs in children less than 3 years of age, and fewer...
Lipoblastoma is a rare benign mesenchymal tumour derived from embryonic white fat tissue. Lipoblastoma generally occurs in children less than 3 years of age, and fewer than 200 cases have been reported in the English literature. There are hardly a dozen reports describing intrathoracic and thoracic involvement. We report a case of a 7-year-old boy who presented with a slowly growing right thoracic wall mass for a duration of 1 year. Radiological investigations (ultrasonography and contrast-enhanced CT of the chest showed the presence of a fat-containing, low density extrapulmonary soft tissue mass) could not confirm the diagnosis, and repeat biopsies also were not conclusive. The mass was excised and histopathology confirmed it as lipoblastoma. A review of literature pertaining to the clinical presentation, radiological features and histopathology of this rare condition has been discussed.
Topics: Child; Humans; Infant; Lipoblastoma; Lipoma; Male; Mesenchymoma; Radiology; Thoracic Wall; Ultrasonography
PubMed: 35131775
DOI: 10.1136/bcr-2021-245345 -
BMC Musculoskeletal Disorders Aug 2021A phosphaturic mesenchymal tumor (PMT) is classified into four histological subtypes: mixed connective tissue, osteoblast-like, non-ossifying fibroma-like, and ossifying... (Review)
Review
BACKGROUND
A phosphaturic mesenchymal tumor (PMT) is classified into four histological subtypes: mixed connective tissue, osteoblast-like, non-ossifying fibroma-like, and ossifying fibroma-like. The ossifying fibroma-like subtype being extremely rare. Most PMTs are benign, with a minimal number becoming malignant after recurrence. In this study, we report a case of recurrence and malignant transformation of PMT-ossifying fibroma-like subtype in the left hip bone.
CASE PRESENTATION
Here, we report the clinical manifestations, histology, pathological features, and treatment of a 57-year-old Chinese woman with a recurrent and malignant ossifying fibroma-like subtype PMT of the left iliac bone. The tumor was first discovered 3 years ago when the patient underwent surgery to remove the tumor. Precisely 2 years and 6 months after the operation, the pain in the left hip reappeared. After 6 months, the patient went to our hospital for treatment. After the tumor resection, the postoperative symptoms improved significantly, and the serum alkaline phosphatase level returned to normal. Based on clinical manifestations, evaluation of serum biochemical indicators, X-ray examination, computerized tomography scan of the pelvis, and histopathological examination of the two operations, the patient was finally diagnosed with a recurring and malignant transformation of the left iliac bone phosphaturic mesenchymal tumor-ossifying fibroma-like subtype. No tumor recurrence was found during the follow-up 15 months after the operation.
CONCLUSIONS
This case increases the awareness of a rare malignant subtype of PMT and provides a valuable reference for the diagnosis of this disease.
Topics: Female; Fibroma; Fibroma, Ossifying; Humans; Mesenchymoma; Middle Aged; Neoplasm Recurrence, Local; Tomography, X-Ray Computed
PubMed: 34376178
DOI: 10.1186/s12891-021-04558-1 -
Journal of Pathology and Translational... Jan 2021Fibrocartilaginous mesenchymoma is a rare bone tumor, with fewer than 35 cases reported in the literature since 1984. This tumor usually occurs in the long bones of...
Fibrocartilaginous mesenchymoma is a rare bone tumor, with fewer than 35 cases reported in the literature since 1984. This tumor usually occurs in the long bones of children and adolescents. In the current case, the tumor affected a rib. A 17-year-old boy presented with a mass in the right fifth rib. Radiologic findings revealed an osteolytic mass with cortical destruction and calcification; en bloc resection was performed. The tumor showed three distinct histologic features: bland spindle cell proliferation, benign cartilage nodules, and epiphyseal plate-like enchondral ossification. The pathologic diagnosis was fibrocartilaginous mesenchymoma. The patient remains free of disease 1 year after the surgery. Pathological diagnosis of fibrocartilaginous mesenchymoma can be challenging, especially when the tumor occurs in an unusual site. When any fibro-osseous lesion with a cartilaginous component is encountered, the possibility of fibrocartilaginous mesenchymoma should be considered because of its locally aggressive behavior.
PubMed: 33260287
DOI: 10.4132/jptm.2020.10.08 -
BMJ Case Reports Oct 2019Ectomesenchymal chondromyxoid tumour (ECMT) is a rare benign tumour which classically presents in the anterior tongue. This tumour is grossly under-reported due to lack...
Ectomesenchymal chondromyxoid tumour (ECMT) is a rare benign tumour which classically presents in the anterior tongue. This tumour is grossly under-reported due to lack of immunohistochemical staining in many centres. We report a 46-year-old man who presented with mass in the anterior tongue and was diagnosed with ECMT. Further management of this lesion is explained with a review of the literature.
Topics: Chondroma; Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Male; Mesenchymoma; Middle Aged; Tongue Neoplasms
PubMed: 31653634
DOI: 10.1136/bcr-2019-231278 -
Frontiers in Oncology 2019Ectopic ovaries are a rare occurrence. A 33-year-old woman presented to our unit for evaluation of a 2-year history of sporadic abdominal pain that was becoming sharp...
Ectopic ovaries are a rare occurrence. A 33-year-old woman presented to our unit for evaluation of a 2-year history of sporadic abdominal pain that was becoming sharp and frequent. Computed tomography (CT) suggested a gastrointestinal tract mesenchymoma. An abdominal laparotomy was performed and the tumor was excised for pathologic evaluation. A rapid frozen section pathologic examination showed a solitary fibrous tumor (SFT). The final pathology report was an ectopic ovary with corpora lutea bleeding. Ectopic ovaries are benign and the present case is the first report involving an ectopic ovary mimicking a gastrointestinal stromal tumor (GIST). The patient recovered well after surgery. Maldevelopment of the genital tract can lead to ectopic ovaries and surgery is a good management choice. The present case provides a possible differential diagnosis for GISTs.
PubMed: 31334114
DOI: 10.3389/fonc.2019.00580 -
Medicine Oct 2018Phosphaturic mesenchymal tumor mixed connective tissue type (PMT/MCT) is the most common type (up to 90%) of phosphaturic mesenchymal tumor (PMT), a rare... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Phosphaturic mesenchymal tumor mixed connective tissue type (PMT/MCT) is the most common type (up to 90%) of phosphaturic mesenchymal tumor (PMT), a rare clinicopathologic entity. Besides overproduction of fibroblast growth factor 23 (FGF23), there is a big variation of immunohistochemical characteristic across types of PMT, which makes it difficult to obtain an early diagnosis of PMT/MCT. As a benign tumor, PMT/MCT usually happens in subcutaneous tissues and leads to nonhealing of wound. A complete excision of PMT/MCT facilitates wound healing.
CONCLUSIONS
Review of the existing evidence indicates that early diagnosis of PMT/MCT is critically important when treating PMT/MCT wound. Hence standardization of early diagnosis for PMT/MCT is mandated.
Topics: Biomarkers, Tumor; Diagnosis, Differential; Early Detection of Cancer; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Humans; Hypophosphatemia, Familial; Mesenchymoma; Mixed Connective Tissue Disease; Soft Tissue Neoplasms; Wounds and Injuries
PubMed: 30290606
DOI: 10.1097/MD.0000000000012507