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AJNR. American Journal of Neuroradiology Jun 2022Phosphaturic mesenchymal tumors (PMTs) are neoplasms associated with tumor-induced osteomalacia. Patients typically present with pathologic fractures in the setting of...
Phosphaturic mesenchymal tumors (PMTs) are neoplasms associated with tumor-induced osteomalacia. Patients typically present with pathologic fractures in the setting of chronic hypophosphatemic hyperphosphaturic osteomalacia, as well as gradual muscle weakness, bone pain, and difficulty walking. Because of their rarity and nonspecific symptomatology, phosphaturic mesenchymal tumors often go undiagnosed for years. Even when discovered on imaging, the tumors can be diagnostically challenging for radiologists. Phosphaturic mesenchymal tumors often tend to be small and can be located nearly anywhere in the body, and, therefore, can mimic many other tumors. This case highlights the imaging and pathologic markers of a phosphaturic mesenchymal tumor, often found in a patient with tumor-induced osteomalacia.
Topics: Humans; Mesenchymoma; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes
PubMed: 35589138
DOI: 10.3174/ajnr.A7513 -
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 -
Head and Neck Pathology Sep 2022Phosphaturic mesenchymal tumour (PMT) is a rare tumour that occurs in bone or soft tissue and is associated with production of fibroblast growth factor 23 (FGF23)...
Phosphaturic mesenchymal tumour (PMT) is a rare tumour that occurs in bone or soft tissue and is associated with production of fibroblast growth factor 23 (FGF23) leading to tumor-induced osteomalacia. We report three cases of PMT involving the head and neck that highlight the broad spectrum of clinical and histologic features of PMT. One of these lesions from the hard palate demonstrated an admixture of epithelial and mesenchymal elements, a feature that can pose a diagnostic challenge. The diagnostic utility of immunohistochemistry including FGF23, somatostatin receptor 2A, SATB2, ERG and CD56 is discussed. The biochemical pathway in the development of PMT associated tumor induced osteomalacia and its role in investigations and management of PMT is also described.
Topics: Fibroblast Growth Factors; Humans; Mesenchymoma; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes; Soft Tissue Neoplasms
PubMed: 35119617
DOI: 10.1007/s12105-022-01419-8 -
La Radiologia Medica Dec 2021Phosphaturic mesenchymal tumors (PMTs) are rare mesenchymal neoplasms of soft tissue or bone origin that can give rise to a challenge in diagnostic imaging. These tumors... (Review)
Review
Phosphaturic mesenchymal tumors (PMTs) are rare mesenchymal neoplasms of soft tissue or bone origin that can give rise to a challenge in diagnostic imaging. These tumors are frequently associated with tumor-induced osteomalacia, also called oncogenic osteomalacia, which is a rare paraneoplastic syndrome characterized by ectopic secretion of fibroblast growth factor 23, a hormone that regulates serum phosphate level. PMTs show polymorphic features on both radiological findings and histological examination, causing problems in diagnosis owing to their similarity with other mesenchymal tumors. Thus, this paper aims to describe radiological aspects of PMTs and suggest an imaging pathway for accurate diagnosis throughout the evidence from the literature review.
Topics: Diagnostic Imaging; Humans; Mesenchymoma; Osteomalacia; Paraneoplastic Syndromes
PubMed: 34453276
DOI: 10.1007/s11547-021-01412-1 -
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 -
Virchows Archiv : An International... Aug 2021Ectomesenchymoma is an exceedingly rare biphasic malignant tumor characterized by the presence of mesenchymal and neuroectodermal elements. The majority of patients are...
Ectomesenchymoma is an exceedingly rare biphasic malignant tumor characterized by the presence of mesenchymal and neuroectodermal elements. The majority of patients are infants or children. We describe the first case of this entity diagnosed as a primary uterine tumor. A 72-year-old female presented with post-menopausal bleeding. Dilatation and curettage showed irregular mesenchymal proliferation of uncertain nature. In the hysterectomy specimen, a myxoid spindle cell tumor with areas of skeletal muscle and neural differentiation was found in the uterus, with direct invasion of the small intestine, and biphasic differentiation into rhabdomyosarcoma and ganglioneuroblastoma was unequivocally seen in a lymph node metastasis. The morphological findings were validated by immunohistochemistry. Massive parallel sequencing identified TP53, PTEN, and DICER1 mutations in the tumor. This report describes the presence of ectomesenchymoma in an unusual primary organ and in an uncharacteristic age and presents novel data regarding the genetic characteristics of this tumor.
Topics: Aged; Biomarkers, Tumor; DEAD-box RNA Helicases; DNA Mutational Analysis; Female; Ganglioneuroblastoma; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing; Humans; Hysterectomy; Mesenchymoma; Mutation; PTEN Phosphohydrolase; Phenotype; Rhabdomyosarcoma; Ribonuclease III; Tumor Suppressor Protein p53; Uterine Neoplasms
PubMed: 33595736
DOI: 10.1007/s00428-021-03057-x -
Oman Medical Journal Nov 2020Malignant mesenchymoma is a rare tumor in which there are two or more distinct mesenchymal components. These are generally considered as high-grade neoplasms and are...
Malignant mesenchymoma is a rare tumor in which there are two or more distinct mesenchymal components. These are generally considered as high-grade neoplasms and are usually associated with a poor prognosis. Here, we report a case of malignant mesenchymoma containing undifferentiated spindle cell sarcoma, leiomyosarcoma, chondrosarcoma, osteosarcoma, and areas with rhabdoid differentiation in a 54-year-old male. The primary tumor measured 5.5 × 4 × 3 cm and weighed 135 g arising from the left submandibular salivary gland. Fine-needle aspiration cytology showed the presence of pleomorphic spindle cell clusters with atypia and myxoid stroma. An impression of malignant salivary gland neoplasm was given. Diagnosis of malignant mesenchymoma was made on histopathological examination supported by immunohistochemistry showing strong positivity with p53, Ki-67, and focal positivity for smooth muscle actin, S-100, desmin, and negativity for cytokeratins. The exact histogenesis of malignant mesenchymoma and the optimal management strategy to decide the prognosis remains uncertain as it is a rare tumor.
PubMed: 33335748
DOI: 10.5001/omj.2020.98 -
BMJ Case Reports Dec 2020Oncogenic osteomalacia (OO) is an uncommon paraneoplastic syndrome occurring due to the presence of a tumour that oversecretes fibroblast growth factor-23, which impairs...
Oncogenic osteomalacia (OO) is an uncommon paraneoplastic syndrome occurring due to the presence of a tumour that oversecretes fibroblast growth factor-23, which impairs renal phosphate handling. In most cases, the tumour is a morphologically distinct entity called 'phosphaturic mesenchymal tumour' (PMT). Spinal tumours causing OO are exceedingly rare. A 55-year-old man presented with multiple bone pain and proximal muscle weakness in the lower limbs. The constellation of biochemical findings (hypophosphataemia, normocalcaemia, increased alkaline phosphatase, low-normal serum vitamin D and hyperphosphaturia) with radiographical rarefaction of the skeleton and pseudofractures led us to consider OO as a possibility. Functional imaging (Ga DOTA-NOC positron emission tomography/CT scan) localised the tumour to the D2 vertebra. Complete surgical resection led to resolution of symptoms, improved ambulatory status, normalisation of biochemical parameters and healing of pseudofractures. PMT should be considered in the differential diagnosis of hypophosphataemic osteomalacia with hyperphosphaturia. Tumour localisation with functional imaging and complete surgical resection produces satisfactory outcome.
Topics: Humans; Hypophosphatemia; Male; Mesenchymoma; Middle Aged; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes; Spinal Neoplasms; Thoracic Vertebrae
PubMed: 33328210
DOI: 10.1136/bcr-2020-238209 -
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