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Medicine Apr 2017Phosphaturic mesenchymal tumor (PMT) is a new tumor entity of soft tissue and bone tumor recently accepted by the World Health Organization, which typically causes the...
RATIONALE
Phosphaturic mesenchymal tumor (PMT) is a new tumor entity of soft tissue and bone tumor recently accepted by the World Health Organization, which typically causes the paraneoplastic syndrome of tumor-induced osteomalacia (TIO). The majority of PMTs follow a benign clinical course and local recurrence occurs in < 10% of cases, malignant PMTs with distant organ metastasis are extremely uncommon.
PATIENT CONCERNS
We reported a 41-year-old woman who was diagnosed with PMT 10 years ago with a repeated recurrence and pulmonary metastasis.
DIAGNOSES
Based on clinical manifestations, MRI scan, serum biochemical indicators evaluation, followed by histopathological examination, the patient was diagnosed as malignant PMT with pulmonary metastasis.
INTERVENTIONS
The patient was treated with calcium, phosphorus, and vitamin D after surgical resection and measured the serum ion concentrations every 3 months.
OUTCOMES
The patient had a favorable outcome for 10 months without recurrence.
LESSONS
PMTs lack of characteristic histological morphology, some recurrence cases may appear benign morphologically; the malignant PMTs are easily overlooked. Patients with PMT should be carefully evaluated and monitored, in order to early identify its malignant potential.
Topics: Adult; Bone Neoplasms; Diagnosis, Differential; Female; Humans; Hypophosphatemia; Liver Neoplasms; Lung Neoplasms; Mesenchymoma; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes
PubMed: 28445300
DOI: 10.1097/MD.0000000000006750 -
ORL; Journal For Oto-rhino-laryngology... 2017Benign mesenchymal sinonasal neoplasms (BMSN) are rare and histologically heterogeneous. Differential diagnosis, appropriate management, and outcome are still a matter... (Comparative Study)
Comparative Study
PURPOSE
Benign mesenchymal sinonasal neoplasms (BMSN) are rare and histologically heterogeneous. Differential diagnosis, appropriate management, and outcome are still a matter of debate. The aim of this study is to provide evidence for further refinement of assessment and treatment in the future.
PROCEDURES
We retrospectively reviewed data on 93 patients with neuroradiologically verified BMSN treated at our university reference center during the past 22 years.
RESULTS
The most frequent BMSN recorded in our cohort was osteoma of the frontal sinus. Only one-third of the patients affected were symptomatic at initial presentation. The 2 other common fibro-osseous tumor entities, fibrous dysplasia and ossifying fibroma, were confirmed in 12 and 6 patients, respectively. Patients with soft tissue tumor entities such as hemangioma, glomangiopericytoma, angiofibroma, and hamartoma were all symptomatic and underwent surgical resection.
CONCLUSION
Understanding and recognizing the spectrum of appearances of benign mesenchymal sinonasal tumors will improve patient assessment and clinical management. The pathognomonic neuroradiological signs of a particular tumor entity should be actively sought as the neuroradiological features may be the diagnostic clues. Computed tomography and magnetic resonance imaging play complementary roles in identifying the morphological details and locoregional staging of benign mesenchymal sinonasal tumors.
Topics: Adult; Aged; Biopsy, Needle; Cohort Studies; Female; Fibroma, Ossifying; Humans; Immunohistochemistry; Magnetic Resonance Imaging; Male; Mesenchymoma; Middle Aged; Neoplasm Invasiveness; Neoplasm Staging; Osteoma; Paranasal Sinus Neoplasms; Prognosis; Rare Diseases; Retrospective Studies; Switzerland; Tomography, X-Ray Computed
PubMed: 28391267
DOI: 10.1159/000468945 -
BioMed Research International 2017. To check whether primary involvement of brain/spinal cord by bone/soft tissue sarcomas' metastases in children is as rare as described and to present various...
. To check whether primary involvement of brain/spinal cord by bone/soft tissue sarcomas' metastases in children is as rare as described and to present various morphological forms of bone/soft tissue sarcomas' CNS metastases. . Patients with first diagnosis in 1999-2014 treated at single center were included with whole course of disease evaluation. Brain/spinal canal magnetic resonance imaging (MRI)/computed tomography were performed in cases suspicious for CNS metastases. Extension from skull/vertebral column metastases was excluded. . 550 patients were included. MRI revealed CNS metastases in 19 patients (incidence 3.45%), 14 boys, aged 5-22 years. There were 12/250 osteosarcoma cases, 2/200 Ewing's sarcoma, 1/50 chondrosarcoma, 3/49 rhabdomyosarcoma (RMS), and 1/1 malignant mesenchymoma. There were 10 single metastases and 7 cases of multiple ones; in 2 RMS cases only leptomeningeal spread in brain and spinal cord was found. Calcified metastases were found in 3 patients and hemorrhagic in 4. In one RMS patient there were numerous solid, cystic, hemorrhagic lesions and leptomeningeal spread. . CNS metastases are rare and late in children with bone/soft tissue sarcomas, although in our material more frequent (3.45%) than in other reports (0.7%). Hematogenous spread to brain and hemorrhagic and calcified lesions dominated in osteosarcoma. Ewing sarcoma tended to metastasize to skull bones. Soft tissue sarcomas presented various morphological forms.
Topics: Adolescent; Adult; Bone Neoplasms; Central Nervous System Neoplasms; Child; Child, Preschool; Female; Humans; Kaplan-Meier Estimate; Male; Soft Tissue Neoplasms; Young Adult
PubMed: 28243595
DOI: 10.1155/2017/1456473 -
Acta Gastro-enterologica Belgica 2016We report a case of two peculiar gallbladder polyps in a sixty-four year old male who presented with symptomatic cholelithiasis. Cholecystectomy was performed, which...
We report a case of two peculiar gallbladder polyps in a sixty-four year old male who presented with symptomatic cholelithiasis. Cholecystectomy was performed, which revealed two polyps measuring 0.6 cm and 1.9 cm, located in the body of the gallbladder. Microscopic examination of the polyps showed composite mesenchymal lesions with vascular proliferation of small-to-medium sized arterioles, myoid stroma, and lipomatous periphery. The myoid component was characterized by wisps of bland smooth muscle fibers loosely separated by proteinaceous and focally myxoid matrix. The surface of the polyps was lined by a single layer of bland epithelial cells. The unique histomorphologic features differentiate the lesions from other known mesenchymal polyps of the gallbladder. We propose the name "edematous angiomyolipoma-like polyp" for these rare lesions given their histomorphologic similarity to angiomyolipoma. (Acta gastroenterol. belg., 2016, 79, 371-374).
Topics: Angiomyolipoma; Cholecystectomy; Cholelithiasis; Diagnosis, Differential; Gallbladder; Gallbladder Neoplasms; Humans; Immunohistochemistry; Male; Mesenchymoma; Middle Aged; Polyps; Treatment Outcome; Ultrasonography
PubMed: 27821035
DOI: No ID Found -
EBioMedicine Oct 2016Glioblastomas are characterized by transcriptionally distinct subtypes, but despite possible clinical relevance, their regulation remains poorly understood. The commonly...
Glioblastomas are characterized by transcriptionally distinct subtypes, but despite possible clinical relevance, their regulation remains poorly understood. The commonly used molecular classification systems for GBM all identify a subtype with high expression of mesenchymal marker transcripts, strongly associated with invasive growth. We used a comprehensive data-driven network modeling technique (augmented sparse inverse covariance selection, aSICS) to define separate genomic, epigenetic, and transcriptional regulators of glioblastoma subtypes. Our model identified Annexin A2 (ANXA2) as a novel methylation-controlled positive regulator of the mesenchymal subtype. Subsequent evaluation in two independent cohorts established ANXA2 expression as a prognostic factor that is dependent on ANXA2 promoter methylation. ANXA2 knockdown in primary glioblastoma stem cell-like cultures suppressed known mesenchymal master regulators, and abrogated cell proliferation and invasion. Our results place ANXA2 at the apex of a regulatory cascade that determines glioblastoma mesenchymal transformation and validate aSICS as a general methodology to uncover regulators of cancer subtypes.
Topics: Algorithms; Annexin A2; Biomarkers, Tumor; Cell Line, Tumor; Computational Biology; DNA Methylation; Databases, Nucleic Acid; Epigenesis, Genetic; Epithelial-Mesenchymal Transition; Gene Expression Profiling; Gene Expression Regulation, Neoplastic; Gene Knockdown Techniques; Glioblastoma; Humans; Mesenchymoma; Molecular Sequence Annotation; Neoplasm Grading; Neoplastic Stem Cells; Prognosis; Promoter Regions, Genetic
PubMed: 27667176
DOI: 10.1016/j.ebiom.2016.08.050 -
BMJ Case Reports May 2016Hamartoma is a tumour-like malformation appearing as a focal overgrowth of normal cells. Leiomyomatous hamartomas (LHs) are rare in the oral cavity and commonly seen in...
Hamartoma is a tumour-like malformation appearing as a focal overgrowth of normal cells. Leiomyomatous hamartomas (LHs) are rare in the oral cavity and commonly seen in the Japanese and less than 40 cases have been reported in the Japanese and English literature. The clinical differential diagnoses are irritational (traumatic) fibroma and congenital epulis. It has to be differentiated histopathologically from its neoplastic counterparts and mesenchymomas. Hence, we report such a case of LHs, which presented as a sessile gingival growth occurring in the midline in a 15-year-old girl. The final diagnosis was based on the histopathological appearance which was confirmed by immunohistochemical staining of various markers. A review of the literature of previous cases was also carried out.
Topics: Adolescent; Diagnosis, Differential; Female; Gingival Diseases; Hamartoma; Humans; Maxilla; Treatment Outcome
PubMed: 27161203
DOI: 10.1136/bcr-2015-213598 -
The American Journal of Surgical... Jul 2016Malignant ectomesenchymoma (MEM) is an exceedingly rare pediatric sarcoma with a predilection for infants and young children and is composed of dual malignant...
Malignant ectomesenchymoma (MEM) is an exceedingly rare pediatric sarcoma with a predilection for infants and young children and is composed of dual malignant mesenchymal and neuroectodermal components. Microscopically, MEM displays areas of rhabdomyosarcoma (RMS) with intermixed neuronal/neuroblastic foci. The molecular alterations associated with MEM and its relationship with embryonal RMS (ERMS) and malignant peripheral nerve sheath tumor (MPNST) have not yet been elucidated. In this study we used whole-transcriptome sequencing in 2 MEM index cases with available frozen tissue, followed by screening of the identified genetic abnormalities in 5 additional cases. No candidate fusion genes were detected by FusionSeq analysis; however, the mutation detection algorithms revealed HRAS and PTPRD hotspot mutations in both index cases, with 1 case harboring an additional FBXW7 mutation. As these mutation profiles have been previously described in ERMS we have tested their incidence in a control group of 7 age-matched ERMS. In addition, the gene signature of MEM was compared with that of RMS, MPNST, and neuronal lineage. All 7 MEM patients were male, with a mean age of 7.5 months (range, 0.6 to 17 mo). All except 1 occurred in the pelvic/urogenital region. Most cases showed ERMS elements, with occasional spindle or undifferentiated/round cell areas. The intermixed neuroectodermal components were mostly scattered ganglion cells, ganglioneuroma, or ganglioneuroblastoma. By Sanger sequencing, 6 of 7 (86%) MEMs had HRAS mutations, with no additional case harboring PTPRD or FBXW7 mutations. The only case lacking HRAS mutation showed neuroblastic micronodules without ganglion cells. The trimethylation at lysine 27 of histone H3 (H3K27me3) expression, typically lost in MPNST, was retained in all cases. In the control ERMS group, 5 of 7 (71%) showed RAS mutations, equally distributed among NRAS, KRAS, and HRAS genes. The expression profiling of MEM showed upregulation of skeletal muscle and neuronal genes, with no significant overlap with MPNST. Our results of common HRAS mutations and composite gene signature with RMS and neuronal/neuroblastic elements suggest a closer genetic link of MEM to RMS rather than to MPNST.
Topics: Algorithms; Biomarkers, Tumor; DNA Mutational Analysis; Gene Expression Profiling; Humans; Immunohistochemistry; Infant; Infant, Newborn; Male; Mesenchymoma; Polymerase Chain Reaction; Proto-Oncogene Proteins p21(ras); Rhabdomyosarcoma, Embryonal; Transcriptome
PubMed: 26872011
DOI: 10.1097/PAS.0000000000000612 -
Acta Orthopaedica Et Traumatologica... 2016Bizarre parosteal osteochondromatous proliferation (BPOP, also known as Nora's lesion) is a rare, benign, locally aggressive condition defined as osteochondromatous...
Bizarre parosteal osteochondromatous proliferation (BPOP, also known as Nora's lesion) is a rare, benign, locally aggressive condition defined as osteochondromatous exostosis arising from the bony cortex. BPOP presents predominantly in the 2nd and 3rd decades of life, and commonly arises from the periosteum of metacarpals and metatarses, though rare locations have been reported, including the long bones, the maxillae, the bones of calvaria, and the sesamoids. The case of an osteochondromatous lesion in an infant with an intra-abdominal mass arising from the iliac wing, an atypical location of benign solitary lesions, is reported. Benign solitary lesions are exceptional in this age group. The parents of the patient, who was born in term at 3600 grams, discovered a mass in the left groin and observed decreased movement in the lower left extremity. No history of trauma was reported. When the patient was 5 months of age, AP pelvic X-ray, computed tomography, and magnetic resonance imaging revealed a bony mass displacing intra-abdominal organs anteromedially. Biopsy reported an osteocartilaginous lesion with calcified mature cartilaginous fragments surrounded by plasmacytoid, monotone, fibrinoid cells in myxoid background. Differential diagnosis included osteochondroma, osteochondromyxoma, BPOP, fibrocartilaginous mesenchymoma, chondromyxoid fibroma, periosteal chondroma, soft tissue chondroma, myositis ossificans, and juxtacortical chondroma. Biopsy of the resected specimen determined a diagnosis of BPOP. At 6-month postoperative follow-up, neither symptoms nor complaints related to the mass were present.
Topics: Biopsy; Bone Neoplasms; Diagnosis, Differential; Dissection; Exostoses, Multiple Hereditary; Female; Humans; Ilium; Infant; Magnetic Resonance Imaging; Osteochondroma; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 26854060
DOI: 10.3944/AOTT.2016.13.0141 -
Revista Da Associacao Medica Brasileira... 2015Primary osteosarcoma of the breast (POB) is an extremely rare and aggressive tumor. Differential diagnosis of POB includes osteosarcoma of the chest wall and metaplastic...
Primary osteosarcoma of the breast (POB) is an extremely rare and aggressive tumor. Differential diagnosis of POB includes osteosarcoma of the chest wall and metaplastic breast carcinoma. Imaging tests that exclude the existence of a direct connection between the tumor and chest wall, as well as histopathological and immunohistochemical studies that rule out the presence of an epithelial component are required for the diagnosis of POB. We report a case of a 69-year old woman with POB. Imaging and pathological findings are presented. Therapeutic approach is discussed in the light of current knowledge, including potential complications.
Topics: Aged; Breast Neoplasms; Diagnosis, Differential; Fatal Outcome; Female; Humans; Lymph Nodes; Mammography; Mastectomy, Simple; Mesenchymoma; Osteoblasts; Osteosarcoma; Ultrasonography
PubMed: 26841158
DOI: 10.1590/1806-9282.61.06.497 -
Head and Neck Pathology Mar 2016Several benign and malignant mesenchymal and meningothelial lesions may preferentially affect or extend into the sinonasal tract. Glomangiopericytoma (GPC, formerly... (Review)
Review
Several benign and malignant mesenchymal and meningothelial lesions may preferentially affect or extend into the sinonasal tract. Glomangiopericytoma (GPC, formerly sinonasal-type hemangiopericytoma) is a specific tumor with a predilection to the sinonasal tract. Sinonasal tract polyps with stromal atypia (antrochoanal polyp) demonstrate unique histologic findings in the sinonasal tract. Juvenile nasopharyngeal angiofibroma (JNA) arises from specialized tissue in this location. Meningioma may develop as direct extension from its intracranial counterpart or as an ectopic tumor. Selected benign mesenchymal tumors may arise in the sinonasal tract and pose a unique differential diagnostic consideration, such as solitary fibrous tumor and GPC or lobular capillary hemangioma and JNA. Although benign and malignant vascular, fibrous, fatty, skeletal muscle, and nerve sheath tumors may occur in this location, this paper focuses on a highly select group of rare benign sinonasal tract tumors with their clinicopathological and molecular findings, and differential diagnosis.
Topics: Brain Neoplasms; Humans; Meningioma; Mesenchymoma; Paranasal Sinus Neoplasms
PubMed: 26830398
DOI: 10.1007/s12105-016-0697-6