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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 -
The American Journal of Surgical... Jun 2021Cutaneous anaplastic large-cell lymphoma (C-ALCL) represents one of the entities within the group of CD30-positive lymphoproliferative disorders of the skin. Most cases...
Spindle-cell (Sarcomatoid) Variant of Cutaneous Anaplastic Large-cell Lymphoma (C-ALCL): An Unusual Mimicker of Cutaneous Malignant Mesenchymal Tumors-A Series of 11 Cases.
Cutaneous anaplastic large-cell lymphoma (C-ALCL) represents one of the entities within the group of CD30-positive lymphoproliferative disorders of the skin. Most cases are ALK-negative, though isolated cases of ALK-positive C-ALCL have also been reported. By definition, the diagnosis of C-ALCL requires the expression of CD30 in >75% of the cells. Histopathologically, C-ALCL shows a dermal-based nodular and circumscribed proliferation of large pleomorphic cells with vesicular nuclei, prominent nucleoli, and eosinophilic cytoplasm, including hallmark cells. Since 1990, isolated case reports of a so-called "sarcomatoid" variant have been published in the literature. Herein, we present a series of 11 cases of spindle (sarcomatoid) C-ALCL, with comprehensive histopathologic, immunophenotypic, and molecular data. Spindle C-ALCL represents a potential mimicker of malignant mesenchymal or hematopoietic tumors in the skin and should always be considered in the differential diagnosis when assessing cutaneous pleomorphic spindle cell neoplasms.
Topics: Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Immunophenotyping; In Situ Hybridization, Fluorescence; Lymphoma, Primary Cutaneous Anaplastic Large Cell; Male; Mesenchymoma; Middle Aged; Predictive Value of Tests; Skin Neoplasms
PubMed: 33234878
DOI: 10.1097/PAS.0000000000001623 -
Genes, Chromosomes & Cancer Feb 2021To our knowledge, we describe the first mesenchymal tumor with a novel GLI1-FOXO4 fusion gene. This well-circumscribed kidney tumor displayed variably myxoid and...
To our knowledge, we describe the first mesenchymal tumor with a novel GLI1-FOXO4 fusion gene. This well-circumscribed kidney tumor displayed variably myxoid and epithelioid histologic features with a focally nodular growth pattern. The tumor cells showed bland, round to ovoid nuclei, with no overt high-grade features. The tumor showed focal immunopositivity for smooth muscle actin and Melan-A, which raised the possibility of a relationship with a perivascular epithelioid cell tumor. The clinical and morphologic features appear distinct from other reported neoplasms harboring GLI1 or FOXO4 gene rearrangements. The patient underwent radical nephrectomy and is without evidence of disease during a relatively short clinical follow-up period. However, the features of this tumor likely warrant long-term follow-up to monitor for the possibility of a late recurrence or metastasis. In addition to reporting this novel fusion-positive tumor, we also provide a brief review of GLI1 and FOXO4 gene functions in both normal and neoplastic contexts.
Topics: Cell Cycle Proteins; Forkhead Transcription Factors; Humans; Kidney Neoplasms; Male; Mesenchymoma; Middle Aged; Oncogene Proteins, Fusion; Zinc Finger Protein GLI1
PubMed: 33159395
DOI: 10.1002/gcc.22916 -
Virchows Archiv : An International... Apr 2021Phosphaturic mesenchymal tumors (PMT) are rare neoplasms characterized by secretion of FGF23, resulting in renal phosphate wasting and osteomalacia. This tumor-induced...
Phosphaturic mesenchymal tumors (PMT) are rare neoplasms characterized by secretion of FGF23, resulting in renal phosphate wasting and osteomalacia. This tumor-induced osteomalacia (TIO) is cured by complete resection; thus, diagnosis is important, particularly on biopsy. Although PMT have a classic histologic appearance of bland spindled cells with conspicuous vascular network and characteristic smudgy basophilic matrix, there is a broad histologic spectrum and variant histologic patterns can make recognition difficult. Recent studies have demonstrated FN1-FGFR1 and FN1-FGF1 gene fusions in PMT; however, approximately 50% of cases are negative for these fusions. We sought to characterize 6 cases of PMT in-depth, compare fusion detection methods, and determine whether alternative fusions could be uncovered by targeted RNA sequencing. Of the 6 cases of PMT in our institutional archive, 3 were not given diagnoses of PMT at the time of initial pathologic examination. We characterized the immunoprofile (SMA, D2-40, CD56, S100 protein, desmin, SATB2, and ERG) and gene fusion status (FN1 and FGFR1 rearrangements by fluorescent in situ hybridization (FISH) and two targeted RNA sequencing approaches) in these cases. Tumors were consistently positive for SATB2 and negative for desmin, with 5/6 cases expressing ERG and CD56. One specimen was acid-decalcified and failed FISH and RNA sequencing. We found FN1 gene rearrangements by FISH in 2/5 cases, and a FN1-FGFR1 fusion by targeted RNA sequencing. No alternative gene fusions were identified by RNA sequencing. Our findings suggest that IHC and molecular analysis can aid in the diagnosis of PMT, guiding excision of the tumor and resolution of osteomalacia.
Topics: Adult; Aged; Biomarkers, Tumor; Female; Fibroblast Growth Factor-23; Gene Fusion; Humans; Hypophosphatemia; Immunohistochemistry; In Situ Hybridization, Fluorescence; Male; Mesenchymoma; Middle Aged; Osteomalacia; Paraneoplastic Syndromes
PubMed: 33151412
DOI: 10.1007/s00428-020-02963-w -
The Indian Journal of Medical Research Nov 2020
Topics: Humans; Mesenchymoma; Soft Tissue Neoplasms
PubMed: 35345219
DOI: 10.4103/ijmr.IJMR_2371_19 -
Biomolecules Oct 2020Synovial sarcoma (SS) is a malignant mesenchymal soft tissue neoplasm. Despite its name, the cells of origin are not synovial cells, but rather neural, myogenic, or...
Synovial sarcoma (SS) is a malignant mesenchymal soft tissue neoplasm. Despite its name, the cells of origin are not synovial cells, but rather neural, myogenic, or multipotent mesenchymal stem cells have been proposed as possible cells originators. Unlike other sarcomas, an unusual presentation of long-term pain at the tumor site has been documented, but the exact mechanisms have not been fully clarified yet. The transient receptor potential ankyrin 1 (TRPA1) is a nonselective cation channel mainly expressed in primary sensory neurons, where it functions as a pain sensor. TRPA1 have also been described in multiple non-excitable cells, including those derived from neural crest stem cells such as glial cells and, in particular, Schwann cell oligodendrocytes and astrocytes. We evaluated TRPA1 expression in SS. We selected a cohort of 41 SSs, and by immunohistochemistry, we studied TRPA1 expression TRPA1 was found in 92.6% of cases. Triple TRPA1/pS100/SOX10 and TRPA1/SLUG/SNAIL staining strongly supports a neural origin of SS. TRPA1 positivity was also observed in a subset of cases negative with pS100, SOX10 and/or SLUG/SNAIL, and these divergent phenotypes may reflect a process of tumor plasticity and dedifferentiation of neural-derived SSs. Given the functional diversity of TRPA1 and its expression in neuronal and non-neuronal multipotent neural crest stem cells, it remains to be determined whether TRPA1 expression in SSs neoplastic cells plays a role in the molecular mechanism associated with premonitory pain symptoms and tumor progression.
Topics: Adolescent; Adult; Aged; Biomarkers, Tumor; Female; Gene Expression Regulation, Neoplastic; Humans; Male; Mesenchymoma; Middle Aged; Neural Stem Cells; Sarcoma, Synovial; Soft Tissue Neoplasms; TRPA1 Cation Channel; Young Adult
PubMed: 33076385
DOI: 10.3390/biom10101446 -
European Radiology Apr 2021Currently, the main challenge in tumour-induced osteomalacia (TIO) is the difficulty in locating culprit tumours for definitive diagnosis and surgical therapy. Herein,...
OBJECTIVES
Currently, the main challenge in tumour-induced osteomalacia (TIO) is the difficulty in locating culprit tumours for definitive diagnosis and surgical therapy. Herein, we retrospectively evaluate the efficiency of Ga-DOTANOC PET/CT in the localisation and diagnosis of TIO, and compared with F-FDG.
METHODS
Twenty-four consecutive patients with hypophosphataemic osteomalacia (HO) and suspicion of TIO who were referred to our centre for Ga-DOTANOC PET/CT scanning were retrospectively reviewed. The images were evaluated qualitatively as well as semi-quantitatively, and imaging results were compared with the final diagnoses.
RESULTS
Among the total of 21 patients who were included in the final analyses, 17 were diagnosed with TIO, while four were proven to have other causes of HO. Ga-DOTANOC PET/CT produced positive results in 16 of the 17 patients with TIO, representing a sensitivity of 94.1%. Moreover, the Ga-DOTANOC PET/CT results were negative in 3 of the 4 patients without TIO, representing a specificity of 75.0%. The overall accuracy of Ga-DOTANOC PET/CT in locating the tumours responsible for TIO is 90.5%. In particular, Ga-DOTANOC PET/CT detected the culprit tumours in 4 out of 10 patients with negative results on previous F-FDG PET/CT and showed a significantly higher T/M ratio of tumours than F-FDG PET/CT in the same patients (n = 10; 4.76 ± 3.08 vs 1.95 ± 1.33, p < 0.05).
CONCLUSIONS
Ga-DOTANOC PET/CT is an accurate imaging modality in the localisation of tumours for TIO. It is superior to F-FDG PET/CT and may be useful in the differential diagnosis of HO.
KEY POINTS
• TIO should be considered a possible cause for patients diagnosed with HO, which usually needs to be differentiated from other aetiologies. • Ga-DOTANOC PET/CT is an accurate imaging modality in locating culprit tumours for TIO, superior to F-FDG PET/CT.
Topics: Gallium Radioisotopes; Humans; Multimodal Imaging; Organometallic Compounds; Osteomalacia; Paraneoplastic Syndromes; Positron Emission Tomography Computed Tomography; Positron-Emission Tomography; Retrospective Studies
PubMed: 33021702
DOI: 10.1007/s00330-020-07342-2 -
Clinical Hemorheology and... 2021Tumor-induced osteomalacia (TIO) is a vanishingly rare paraneoplastic syndrome which is usually caused by phosphaturic mesenchymal tumors (PMTs). The conventional... (Review)
Review
Tumor-induced osteomalacia (TIO) is a vanishingly rare paraneoplastic syndrome which is usually caused by phosphaturic mesenchymal tumors (PMTs). The conventional treatment for PMTs is total resection, and ultrasound-guided radiofrequency ablation (RFA) can also be used for the treatment of PMTs patients, especially for patients in whom complete resection may lead to serious complications. We report two cases with PMT who presented syndrome with progressive musculoskeletal complaints and performed ultrasound-guided biopsy and RFA. Ultrasound-guided RFA, which is a safe and effective minimally invasive treatment option, appears to be a valuable alternative to surgery for patients presenting with PMT. We are the first reported case of RFA guided by ultrasonography in the treatment of PMT.
Topics: Adult; Catheter Ablation; Humans; Image-Guided Biopsy; Male; Mesenchymoma; Osteomalacia; Paraneoplastic Syndromes; Radiofrequency Ablation; Treatment Outcome; Ultrasonography; Ultrasonography, Interventional
PubMed: 32924995
DOI: 10.3233/CH-200921 -
Pediatric Blood & Cancer Nov 2020Composite sarcoma of bone is a very rare entity that primarily affects adolescent and young adult patients. It usually combines areas of liposarcoma and osteosarcoma,...
Composite sarcoma of bone is a very rare entity that primarily affects adolescent and young adult patients. It usually combines areas of liposarcoma and osteosarcoma, and up to 60% of cases have metastatic disease at diagnosis. It is a highly aggressive pathology with intrinsic resistance to bone sarcoma conventional treatments. The prognosis is poor, with long-term survival rates not exceeding 30%. We present the case of an adolescent female diagnosed with an aggressive composite sarcoma of bone with rhabdomyosarcoma foci and loco-regional lymph node involvement.
Topics: Adolescent; Bone Neoplasms; Female; Humans; Lymphatic Metastasis; Osteosarcoma; Prognosis; Rhabdomyosarcoma; Soft Tissue Neoplasms
PubMed: 32860659
DOI: 10.1002/pbc.28679