Phosphaturic mesenchymal tumor, nonphosphaturic variant, causing fatal pulmonary metastasis

Uchihashi, Kazuyoshi; Nishijima-Matsunobu, Aki; Matsuyama, Atsuji; Yamasaki, Fumio; Tanabe, Tsuyoshi; Uemura, Tetsuji; Aragane, Naoko; Yakushiji, Mai; Yamamoto, Masahiro; Aoki, Shigehisa; Toda, Shuji

doi:10.1016/j.humpath.2013.04.027

Cited by 28 publications

(13 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Classically, the hypophosphatemia caused by PMT is corrected after surgical removal [60]. There is a small percentage of tumors within the histological spectrum of PMT that do not demonstrate phosphate diuresis and have been referred to as PMT non-phosphaturic variant [32,37,61,62]. From our literature review 4 out of 55 cases did not have OO.…”

Section: Discussionmentioning

confidence: 89%

Phosphaturic Mesenchymal Tumor: 2 New Oral Cases and Review of 53 Cases in the Head and Neck

Qari

Hamao-Sakamoto

Fuselier

et al. 2015

Head and Neck Pathol

View full text Add to dashboard Cite

Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that secretes fibroblast growth factor-23 (FGF-23) and causes oncogenic osteomalacia. It occurs in adults with equal gender distribution and the most common location is the lower extremities, followed by the head and neck. Besides osteomalacia, the clinical presentation includes bone pain and multiple bone fractures. Microscopic features consist of spindle cells, multinucleated giant cells, and calcifications embedded in a chondromyxoid matrix. Laboratory findings indicate normal calcium and parathyroid levels, hypophosphatemia, and increased levels of FGF-23 that usually revert to normal after surgical removal. Due to its rarity, the purpose of the study was to report 2 new oral cases of PMT and to review the literature in the head and neck. The first case occurred in the gingiva and had been present for 6 years. The second case was a recurrence of a previously diagnosed PMT in the right mandible that metastasized to the lung and soft tissue. The literature review included 53 cases in the head and neck. There was a predilection for extra-oral sites (76 %) compared to intra-oral sites (24 %) with paranasal sinuses considered the most common location (38 %) followed by the mandible (15 %). There were 9 recurrences that included 3 malignant cases indicating a potentially aggressive tumor. Due to the indeterminate biological behavior of PMT and its rarity, a comprehensive evaluation of medical, laboratory, radiographic, and histological findings are crucial for a definitive diagnosis and treatment.

show abstract

Section: Discussionmentioning

confidence: 89%

Phosphaturic Mesenchymal Tumor: 2 New Oral Cases and Review of 53 Cases in the Head and Neck

Qari

Hamao-Sakamoto

Fuselier

et al. 2015

Head and Neck Pathol

View full text Add to dashboard Cite

show abstract

“…6,13 In the past, tumour-associated osteomalacia was thought to be induced by several kinds of tumour, 14 but a recent investigation revealed that almost all tumour-induced osteomalacia cases were associated with a histologically definitive tumour entity, phosphaturic mesenchymal tumour, mixed connective tissue variant. 10 As to the metastatic potential of this condition, some metastatic cases were reported, 10,[15][16][17][18][19][20] but no comparative study was performed between metastatic and non-metastatic PMT-MCT cases with plural cases in the former group. In this study, we reported two cases of multiple PMT-MCT in which there was an initial suspicion of multiple systemic metastasis.…”

Section: Discussionmentioning

confidence: 99%

Histopathological and genetic review of phosphaturic mesenchymal tumours, mixed connective tissue variant

et al. 2017

View full text Add to dashboard Cite

show abstract

“…8,[30][31][32][33] Demonstration of FGF23 mRNA expression by CISH may be very valuable in the diagnosis of malignant PMT, particularly in cases in which the primary tumor is not available for review (or was originally diagnosed as something other than PMT) and in cases in which the metastatic lesions lose typical histologic features of PMT. In addition to confirming FGF23 mRNA expression in the great majority of "garden-variety" PMTs, we also report for the first time FGF23 mRNA expression in histologically malignant PMTs and their metastases.…”

Section: Discussionmentioning

confidence: 99%

A Novel Chromogenic In Situ Hybridization Assay for FGF23 mRNA in Phosphaturic Mesenchymal Tumors

Carter

Caron

Doğan

et al. 2015

American Journal of Surgical Pathology

View full text Add to dashboard Cite

Phosphaturic mesenchymal tumors of the mixed connective tissue type (PMT) are very rare tumors of bone and soft tissues. Most patients with PMT have long-standing osteomalacia secondary to production of fibroblast growth factor 23 (FGF23), a hormone that inhibits phosphate reuptake within the renal proximal tubule. Previously, we have reported the detection of FGF23 mRNA in PMT by reverse transcription polymerase chain reaction (PCR); however, the low specificity and risk for nontumoral tissue contamination inherent in PCR-based methodology limit its clinical utility. We evaluated RNAscope as a semiquantitative method of in situ FGF23 mRNA detection in the diagnosis of PMT. Twenty-five PMTs (median 52 y, range 5 to 73 y) occurred in patients with tumor-induced osteomalacia (TIO), manifesting as masses (mean 3.9 cm, range 1.4 to 12 cm) in various bones and soft tissues. FGF23 mRNA was positive in 96% (22/23) informative cases of PMT: 16 cases scored 3+; 5 scored as 2+; 1 scored as 1+. Among these cases, FGF23 mRNA was detected in 3 malignant PMTs along with their metastases. Forty control cases included aneurysmal bone cyst (N=4), chondromyxoid fibroma (N=8), high-grade osteosarcomas (N=8), and (nonfamilial) tumoral calcinosis, as well as miscellaneous cartilage-forming tumors or osteoid-forming tumors and soft tissue tumors. All control cases were negative for FGF23 mRNA in the lesional cells. One aneurysmal bone cyst had rare FGF23 mRNA-expressing osteocytes clustered around remodeled bone. One ovarian serous carcinoma in a patient with disseminated disease, elevated serum FGF23, and TIO was negative for FGF23 mRNA in the neoplastic cells. We conclude that RNAscope is a highly sensitive and specific, semiquantitative in situ hybridization method of FGF23 mRNA detection applicable to formalin-fixed, paraffin-embedded tissues. Detection of FGF23 expression is a valuable diagnostic adjunct, especially in patients with occult TIO. Compared with reverse transcription PCR, this method preserves tissue morphology and reduces "false positives" related to detection of endogenous FGF23 mRNA expression by osteocytes.

show abstract

Phosphaturic mesenchymal tumor, nonphosphaturic variant, causing fatal pulmonary metastasis

Cited by 28 publications

References 10 publications

Phosphaturic Mesenchymal Tumor: 2 New Oral Cases and Review of 53 Cases in the Head and Neck

Phosphaturic Mesenchymal Tumor: 2 New Oral Cases and Review of 53 Cases in the Head and Neck

Histopathological and genetic review of phosphaturic mesenchymal tumours, mixed connective tissue variant

A Novel Chromogenic In Situ Hybridization Assay for FGF23 mRNA in Phosphaturic Mesenchymal Tumors

Contact Info

Product

Resources

About