Primary Hyperparathyroidism-Phosphaturic Mesenchymal Tumour: An Unusual Association and a Probable Syndrome
Phosphaturic Mesenchymal Tumour (PMT) is a rare and underdiagnosed tumour that causes Tumour-Induced Osteomalacia (TIO). These tumours produce Fibroblast Growth Factor-23 (FGF23), which inhibits renal tubular phosphate reabsorption, leading to hyperphosphaturia and oncogenic osteomalacia. The associ...
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JCDR Research and Publications Private Limited
2025-01-01
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| author | Gwendolyn Fernandes Avanika Gloria Khumanthem |
| author_facet | Gwendolyn Fernandes Avanika Gloria Khumanthem |
| author_sort | Gwendolyn Fernandes |
| collection | DOAJ |
| description | Phosphaturic Mesenchymal Tumour (PMT) is a rare and underdiagnosed tumour that causes Tumour-Induced Osteomalacia (TIO). These tumours produce Fibroblast Growth Factor-23 (FGF23), which inhibits renal tubular phosphate reabsorption, leading to hyperphosphaturia and oncogenic osteomalacia. The association of primary Hyperparathyroidism (pHPT) with PMT is extremely rare, with only two cases reported in the literature to date. A 51-year-old male presented in a bedridden state with multiple episodes of fractures throughout his skeleton over six years. Investigations revealed mild hypocalcaemia, marked hypophosphatemia, elevated serum Alkaline Phosphatase (ALP), low 25-Hydroxy Vitamin D, and persistently raised Parathormone (PTH) levels. A 68-Ga-DOTANOC 3D PET (Positron Emission Tomography) scan revealed a 4.1×3.2×2.5 cm DOTA avid mass in the right thigh. FGF23 levels were found to be 1466 pg/mL. A diagnosis of hypophosphatemic osteomalacia with pHPT was made, and the mass was subsequently excised. The thigh mass measured 3.5×2.5 cm and had a tan-brown cut surface. Microscopy revealed a benign spindle cell tumour with a vasoformative pattern and areas of grungy calcification. Immunohistochemistry demonstrated strong positivity for Vimentin, while CD34, CD68, CK, and Desmin were negative. A diagnosis of PMT, Mixed Connective Tissue type, was established. Normal phosphate, calcium, and FGF23 levels were restored after surgery, and the patient was able to walk again. This unusual case of a patient with pHPT and PMT, and the possible existence of a “pHPT-PMT syndrome, “was reported in the Times of India on November 20, 2022, as “Rare phosphorus-guzzling tumour left Dongri man bedridden for three years.” The exact aetiology for the association of PMT and pHPT is not known, and the hypothesis of aberrant gene expression has been implicated. |
| format | Article |
| id | doaj-art-50e5a601433447cdbe583304cff263fc |
| institution | Kabale University |
| issn | 2249-782X 0973-709X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | JCDR Research and Publications Private Limited |
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| spelling | doaj-art-50e5a601433447cdbe583304cff263fc2025-01-27T12:16:33ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2025-01-011901040610.7860/JCDR/2025/75129.20543Primary Hyperparathyroidism-Phosphaturic Mesenchymal Tumour: An Unusual Association and a Probable Syndrome Gwendolyn Fernandes0Avanika1Gloria Khumanthem2Professor (Additional), Department of Pathology, Seth G.S. Medical College and K.E.M. Hospital, Mumbai, Maharashtra, India.Junior Resident, Department of Pathology, Seth G.S. Medical College and K.E.M. Hospital, Mumbai, Maharashtra, India.Ex-fellow, Department of Uropathology, Seth G.S. Medical College and K.E.M. Hospital, Mumbai, Maharashtra, India.Phosphaturic Mesenchymal Tumour (PMT) is a rare and underdiagnosed tumour that causes Tumour-Induced Osteomalacia (TIO). These tumours produce Fibroblast Growth Factor-23 (FGF23), which inhibits renal tubular phosphate reabsorption, leading to hyperphosphaturia and oncogenic osteomalacia. The association of primary Hyperparathyroidism (pHPT) with PMT is extremely rare, with only two cases reported in the literature to date. A 51-year-old male presented in a bedridden state with multiple episodes of fractures throughout his skeleton over six years. Investigations revealed mild hypocalcaemia, marked hypophosphatemia, elevated serum Alkaline Phosphatase (ALP), low 25-Hydroxy Vitamin D, and persistently raised Parathormone (PTH) levels. A 68-Ga-DOTANOC 3D PET (Positron Emission Tomography) scan revealed a 4.1×3.2×2.5 cm DOTA avid mass in the right thigh. FGF23 levels were found to be 1466 pg/mL. A diagnosis of hypophosphatemic osteomalacia with pHPT was made, and the mass was subsequently excised. The thigh mass measured 3.5×2.5 cm and had a tan-brown cut surface. Microscopy revealed a benign spindle cell tumour with a vasoformative pattern and areas of grungy calcification. Immunohistochemistry demonstrated strong positivity for Vimentin, while CD34, CD68, CK, and Desmin were negative. A diagnosis of PMT, Mixed Connective Tissue type, was established. Normal phosphate, calcium, and FGF23 levels were restored after surgery, and the patient was able to walk again. This unusual case of a patient with pHPT and PMT, and the possible existence of a “pHPT-PMT syndrome, “was reported in the Times of India on November 20, 2022, as “Rare phosphorus-guzzling tumour left Dongri man bedridden for three years.” The exact aetiology for the association of PMT and pHPT is not known, and the hypothesis of aberrant gene expression has been implicated.https://www.jcdr.net/articles/PDF/20543/75129_CE[Ra1]_F(SHU)_QC(PS_SS)_PF1(AG_SL)_PFA(IS)_PB(AG_IS)_PN(IS).pdffracturesfibroblast growth factor-23hypophosphatemiatumour-induced osteomalacia |
| spellingShingle | Gwendolyn Fernandes Avanika Gloria Khumanthem Primary Hyperparathyroidism-Phosphaturic Mesenchymal Tumour: An Unusual Association and a Probable Syndrome Journal of Clinical and Diagnostic Research fractures fibroblast growth factor-23 hypophosphatemia tumour-induced osteomalacia |
| title | Primary Hyperparathyroidism-Phosphaturic Mesenchymal Tumour: An Unusual Association and a Probable Syndrome |
| title_full | Primary Hyperparathyroidism-Phosphaturic Mesenchymal Tumour: An Unusual Association and a Probable Syndrome |
| title_fullStr | Primary Hyperparathyroidism-Phosphaturic Mesenchymal Tumour: An Unusual Association and a Probable Syndrome |
| title_full_unstemmed | Primary Hyperparathyroidism-Phosphaturic Mesenchymal Tumour: An Unusual Association and a Probable Syndrome |
| title_short | Primary Hyperparathyroidism-Phosphaturic Mesenchymal Tumour: An Unusual Association and a Probable Syndrome |
| title_sort | primary hyperparathyroidism phosphaturic mesenchymal tumour an unusual association and a probable syndrome |
| topic | fractures fibroblast growth factor-23 hypophosphatemia tumour-induced osteomalacia |
| url | https://www.jcdr.net/articles/PDF/20543/75129_CE[Ra1]_F(SHU)_QC(PS_SS)_PF1(AG_SL)_PFA(IS)_PB(AG_IS)_PN(IS).pdf |
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