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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 -
Radiographics : a Review Publication of... Jan 2023
Topics: Humans; Mesenchymoma; Soft Tissue Neoplasms
PubMed: 36367823
DOI: 10.1148/rg.220185 -
Best Practice & Research. Clinical... Mar 2024Tumor-induced osteomalacia (TIO) is rare paraneoplastic syndrome of hypophosphatemic osteomalacia, caused by phosphaturic factors secreted by small mesenchymal origin... (Review)
Review
Tumor-induced osteomalacia (TIO) is rare paraneoplastic syndrome of hypophosphatemic osteomalacia, caused by phosphaturic factors secreted by small mesenchymal origin tumors with distinct pathological features, called 'phosphaturic mesenchymal tumors'. FGF23 is the most well-characterized of the phosphaturic factors. Tumors are often small and located anywhere in the body from head to toe, which makes the localisation challenging. Functional imaging by somatostatin receptor-based PET imaging is the first line investigation, which should be followed with CT or MRI based anatomical imaging. Once localised, complete surgical excision is the treatment of choice, which brings dramatic resolution of symptoms. Medical management in the form of phosphate and active vitamin D supplements is given as a bridge to surgical management or in inoperable/non-localised patients. This review provides an overview of the epidemiology, pathophysiology, pathology, clinical features, diagnosis, and treatment of TIO, including the recent advances and directions for future research in this field.
Topics: Humans; Neoplasms, Connective Tissue; Osteomalacia; Mesenchymoma; Paraneoplastic Syndromes
PubMed: 37935612
DOI: 10.1016/j.beem.2023.101834 -
Seminars in Diagnostic Pathology Jul 2019Perhaps the rarest cause of osteomalacia is that caused by a neoplasm, so-called "tumor-induced osteomalacia" (TIO). Although very rare cases of TIO have been associated... (Review)
Review
Perhaps the rarest cause of osteomalacia is that caused by a neoplasm, so-called "tumor-induced osteomalacia" (TIO). Although very rare cases of TIO have been associated with carcinomas and syndromes such as neurofibromatosis type-1 and McCune-Albright syndrome, the overwhelming majority of TIO is caused by tumors of mesenchymal origin. Although it was historically felt that almost any mesenchymal tumor type could occasionally result in TIO, it has become increasingly clear over the past several decades that almost all cases of mesenchymal tumor-associated TIO are caused by a single entity, known as "phosphaturic mesenchymal tumor" (PMT). This article will review historical aspects of this tumor, as well as its clinical, morphological, immunohistochemical and molecular genetic features. The distinction of PMT from its many potential morphological mimics is discussed in detail.
Topics: Bone Neoplasms; Fibroblast Growth Factor-23; Humans; Mesenchymoma; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes; Soft Tissue Neoplasms
PubMed: 31301876
DOI: 10.1053/j.semdp.2019.07.002 -
The Canadian Journal of Neurological... Jan 2022
Topics: Humans; Mesenchymoma; Osteomalacia; Soft Tissue Neoplasms; Spine
PubMed: 33750487
DOI: 10.1017/cjn.2021.44 -
The New England Journal of Medicine Jun 2020
Topics: Female; Foot; Foot Diseases; Fractures, Bone; Humans; Hypocalcemia; Hypophosphatemia; Magnetic Resonance Imaging; Mesenchymoma; Middle Aged; Osteomalacia; Paraneoplastic Syndromes; Phosphates; Positron Emission Tomography Computed Tomography
PubMed: 32492308
DOI: 10.1056/NEJMcps1913599 -
The New England Journal of Medicine May 2020
Topics: Bone Diseases, Metabolic; Calcitriol; Female; Foot; Foot Diseases; Fractures, Bone; Humans; Hypocalcemia; Hypophosphatemia; Magnetic Resonance Imaging; Mesenchymoma; Middle Aged; Osteomalacia; Paraneoplastic Syndromes; Phosphates; Positron Emission Tomography Computed Tomography
PubMed: 32459927
DOI: 10.1056/NEJMimc1914302 -
Magyar Onkologia Mar 2020Based on our current knowledge, 5-10% of all malignancies are part of hereditary cancer syndromes. Although the increasing diagnostic role of molecular genetic testing... (Review)
Review
Based on our current knowledge, 5-10% of all malignancies are part of hereditary cancer syndromes. Although the increasing diagnostic role of molecular genetic testing makes us able to recognize more hereditary cancer patients, the careful exploration of family and clinical history by physicians is still the most important step for the diagnosis. In our review we deal with mesenchymal tumours associated with hereditary syndromes. Sarcomas comprise only 1% of all malignancies, but they often associate with familiar diseases so they can serve as an indicator of these syndromes. The diagnosis of hereditary cancer predisposition syndromes is essential to ensure appropriate therapy and follow-up for our patients.
Topics: Genetic Predisposition to Disease; Genetic Testing; Humans; Mesenchymoma; Neoplastic Syndromes, Hereditary; Sarcoma
PubMed: 32181763
DOI: No ID Found -
ANZ Journal of Surgery Oct 2023
Topics: Humans; Mesenchymoma; Adrenal Glands; Adrenal Gland Neoplasms
PubMed: 37249155
DOI: 10.1111/ans.18514 -
Diagnostic Cytopathology Oct 2019The Uniform Approach to Breast Fine Needle Aspiration Biopsy was put forward by a learned group of breast physicians in 1997. This landmark manuscript focused... (Review)
Review
The Uniform Approach to Breast Fine Needle Aspiration Biopsy was put forward by a learned group of breast physicians in 1997. This landmark manuscript focused predominantly on diagnosis and reporting of mammary epithelial lesions. Today, most American practitioners turn initially to core biopsy rather than aspiration biopsy for the first line diagnosis of solid breast lesions; however, recent efforts from the International Academy of Cytology have produced a system called the Standardized Reporting of Breast Fine Needle Aspiration Biopsy Cytology (colloquially labeled in 2017 as the "Yokohama System"), suggesting a new interest in breast fine needle aspiration (FNA), especially in resource limited settings or clinical practice settings with experienced breast cytopathologists. Fibroepithelial lesions of the breast comprise a heterogeneous group of biphasic tumors with epithelial and stromal elements. Mesenchymal lesions of the breast include a variety of neoplasms of fibroblastic, myofibroblastic, endothelial, neural, adipocytic, muscular, and osteo-cartilaginous derivations. The cytology of mesenchymal breast lesions is infrequently described in the literature and is mainly limited to case reports and small series. This illustrated review highlights the cytologic features of fibroepithelial and mesenchymal mammary proliferations and discusses differential diagnoses and histomorphologic correlates.
Topics: Biopsy, Fine-Needle; Breast Neoplasms; Diagnosis, Differential; Female; Humans; Mesenchymoma; Neoplasm Metastasis; Neoplasms, Fibroepithelial
PubMed: 31343114
DOI: 10.1002/dc.24288