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International Journal of Clinical and... 2015We discussed the diagnostic and treatment value and clinical significance of computer assisted surgery system (Higemi) in precision surgeries for pediatric complex liver...
We discussed the diagnostic and treatment value and clinical significance of computer assisted surgery system (Higemi) in precision surgeries for pediatric complex liver tumors. A total of 21 pediatric cases receiving hepatectomy for tumors in the portal vein and giant liver tumors from June 2012 to January 2015 were analyzed. Higemi was used for 3-dimensional (3D) reconstruction of thin-slice CT images and surgical planning. Tumors were precisely located and blood vessel neighborhood was determined so as to evaluate surgical feasibility. In addition, pathological classification, surgical time, intraoperative blood loss, transfusion rate and complications were predicted. After 3D reconstruction using Higemi, the neighboring relationship of tumors with blood vessels and the running direction of the blood vessels were clearly visualized. Of 21 cases, 10 cases had tumors located in the left lobe, 5 cases in the right lobe, 3 cases showing involvement of right trilobes, and 3 cases in the middle lobe. Lobes exceeding one third of the total liver volume were resected in 18 cases. Postoperative pathological examination indicated 10 cases of hepatoblastoma, 3 cases of hepatocellular carcinoma, 3 cases of hamartoma, 3 cases of infantile hemangioendothelioma, 1 case of teratoma and 1 case of undifferentiated malignant mesenchymoma. The surgical time was 90-240 min with an average of 130 min; the medium intraoperative blood loss was 60 ml and the minimum blood loss was 3 ml; the transfusion rate was 42.9% (9/21). Surgeries were successful in 20 cases, who were discharged after recovery. However, one case had giant liver tumor combined with severe obstructive jaundice and hepatic insufficiency and died of postoperative liver failure and DIC. 3D reconstruction of CT data using Higemi can clearly visualize the running direction of blood vessels and the neighboring relationship with tumors. Higemi can improve the precision and safety of complex hepatectomy.
PubMed: 26770445
DOI: No ID Found -
Head and Neck Pathology Sep 2016Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm; however, it is the most common cause of tumor-induced osteomalacia (TIO), a paraneoplastic syndrome...
Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm; however, it is the most common cause of tumor-induced osteomalacia (TIO), a paraneoplastic syndrome characterized by renal phosphate wasting and hypophosphatemia. A subset of PMTs harbours an FGFR1 translocation although this alteration has not been demonstrated in PMT involving a head and neck site. We present a series of five PMTs involving the head and neck and demonstrate the diagnostic utility of fluorescence in situ hybridization (FISH) for detecting FGFR1 translocations. Patients' age and sex, tumor location, original diagnosis, the duration of symptoms, the presence of TIO, biochemical results, and medical management were reviewed. The median age at presentation was 45 (range, 24-58 years) and TIO was present in three cases. Four tumors involved soft tissue and one involved bone. Four out of the five tumors in our series were initially misdiagnosed. Three tumors were ultimately categorized as malignant PMT (two patients developed metastatic disease). FGFR1 translocation was present in two out of four cases and remained unknown in one case. In summary, we report on five cases of PMTs arising in the head and neck and confirm utility of FGFR1 FISH in the diagnosis of a subset of PMT.
Topics: Adult; Female; Head and Neck Neoplasms; Humans; Hypophosphatemia; In Situ Hybridization, Fluorescence; Male; Mesenchymoma; Middle Aged; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes; Receptor, Fibroblast Growth Factor, Type 1; Translocation, Genetic; Young Adult
PubMed: 26759148
DOI: 10.1007/s12105-015-0678-1 -
Head and Neck Pathology Jun 2016Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that secretes fibroblast growth factor-23 (FGF-23) and causes oncogenic osteomalacia. It occurs in adults with... (Review)
Review
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.
Topics: Fibroblast Growth Factor-23; Gingival Neoplasms; Head and Neck Neoplasms; Humans; Male; Mandibular Neoplasms; Mesenchymoma; Middle Aged; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes
PubMed: 26577211
DOI: 10.1007/s12105-015-0668-3 -
International Journal of Clinical and... 2015Phosphaturic mesenchymal tumors (PMTs) are the most typical cause of tumor-induced osteomalacia (TIO) associated with mesenchymal neoplasms. Specifically, TIO is... (Comparative Study)
Comparative Study
Phosphaturic mesenchymal tumors (PMTs) are the most typical cause of tumor-induced osteomalacia (TIO) associated with mesenchymal neoplasms. Specifically, TIO is attributed to the production of phosphatonins, such as fibroblast growth factor 23 (FGF23), participating in the homeostasis of phosphate. Although immunohistochemistry (IHC) for FGF23 showed characteristic positive staining in PMTs, FGF23 antibodies that can be used for the reliable diagnosis of PMTs are hard to obtain in common pathology laboratories. Somatostatin receptor 2A (SSTR2A) has been previously proposed as an alternatively useful marker for the diagnosis of PMTs. However, SSTR2A is not commonly utilized in pathological laboratories. The CD56 marker is a useful alternative that is comparable to SSTR2A and is similar considering the sensitivity. Even in cases of PMTs originating in the bones, ethylenediaminetetraacetic acid-based decalcification for tissue processing does not seem to affect the IHC of CD56. As CD56 immunopositivity in mesenchymal tumors is limited, it also has some degree of specificity for PMTs. Thus, when PMTs are suspected, the use of CD56 is recommended.
Topics: Adult; Aged; Biomarkers, Tumor; CD56 Antigen; Female; Fibroblast Growth Factor-23; Humans; Immunohistochemistry; Male; Mesenchymoma; Middle Aged; Neoplasms, Connective Tissue; Osteomalacia; Paraneoplastic Syndromes; Predictive Value of Tests; Receptors, Somatostatin
PubMed: 26339384
DOI: No ID Found -
BMJ Case Reports Jul 2015Plexiform angiomyxoid myofibroblastic tumour (PAMT) has recently emerged as a new entity among gastrointestinal mesenchymal tumours. All of the 27 cases reported until...
Plexiform angiomyxoid myofibroblastic tumour (PAMT) has recently emerged as a new entity among gastrointestinal mesenchymal tumours. All of the 27 cases reported until now originated from the stomach. We report the first case of a duodenal PAMT arising from the first part of the duodenum in a 19-year-old woman presenting with upper abdominal pain and an abdominal lump.
Topics: Adult; Duodenal Neoplasms; Female; Humans; Mesenchymoma; Myxoma; Neoplasms, Muscle Tissue
PubMed: 26216925
DOI: 10.1136/bcr-2015-210004 -
Case Reports in Otolaryngology 2015Pediatric head and neck masses are commonly congenital in origin or of infectious etiology. We present a rare case of benign mesenchymoma in close proximity to the...
Pediatric head and neck masses are commonly congenital in origin or of infectious etiology. We present a rare case of benign mesenchymoma in close proximity to the submandibular gland in an otherwise asymptomatic child. Computerized tomography (CT) scan of the head and neck area revealed a benign lesion, which was later determined to be a benign mesenchymoma on histopathology. The child did well after surgery without any reported recurrence. We discuss the salient features of a benign mesenchymoma in a child and also discuss relevant imaging and management.
PubMed: 26064744
DOI: 10.1155/2015/131469 -
Journal of Hematology & Oncology Jun 2015Recurrent, metastatic mesenchymal myxoid tumors of the gynecologic tract present a management challenge as there is minimal evidence to guide systemic therapy. Such...
STUMP un"stumped": anti-tumor response to anaplastic lymphoma kinase (ALK) inhibitor based targeted therapy in uterine inflammatory myofibroblastic tumor with myxoid features harboring DCTN1-ALK fusion.
BACKGROUND
Recurrent, metastatic mesenchymal myxoid tumors of the gynecologic tract present a management challenge as there is minimal evidence to guide systemic therapy. Such tumors also present a diagnostic dilemma, as myxoid features are observed in leiomyosarcomas, inflammatory myofibroblastic tumors (IMT), and mesenchymal myxoid tumors. Comprehensive genomic profiling was performed in the course of clinical care on a case of a recurrent, metastatic myxoid uterine malignancy (initially diagnosed as smooth muscle tumor of uncertain malignant potential (STUMP)), to guide identify targeted therapeutic options. To our knowledge, this case represents the first report of clinical response to targeted therapy in a tumor harboring a DCTN1-ALK fusion protein.
METHODS
Hybridization capture of 315 cancer-related genes plus introns from 28 genes often rearranged or altered in cancer was applied to >50 ng of DNA extracted from this sample and sequenced to high, uniform coverage. Therapy was given in the context of a phase I clinical trial ClinicalTrials.gov Identifier: ( NCT01548144 ).
RESULTS
Immunostains showed diffuse positivity for ALK1 expression and comprehensive genomic profiling identified an in frame DCTN1-ALK gene fusion. The diagnosis of STUMP was revised to that of an IMT with myxoid features. The patient was enrolled in a clinical trial and treated with an anaplastic lymphoma kinase (ALK) inhibitor (crizotinib/Xalkori®) and a multikinase VEGF inhibitor (pazopanib/Votrient®). The patient experienced an ongoing partial response (6+ months) by response evaluation criteria in solid tumors (RECIST) 1.1 criteria.
CONCLUSIONS
For myxoid tumors of the gynecologic tract, comprehensive genomic profiling can identify clinical relevant genomic alterations that both direct treatment targeted therapy and help discriminate between similar diagnostic entities.
Topics: Anaplastic Lymphoma Kinase; Biomarkers, Tumor; Cell Transformation, Neoplastic; Female; Gene Fusion; Genomics; Humans; Mesenchymoma; Middle Aged; Protein-Tyrosine Kinases; Receptor Protein-Tyrosine Kinases; Uterine Neoplasms
PubMed: 26062823
DOI: 10.1186/s13045-015-0160-2 -
International Journal of Clinical and... 2015Ectomesenchymal chondromyxoid tumors (ECTs) are rare. Only approximately 55 cases have been reported in the English literature. Distinguishing ECTs from soft tissue...
Ectomesenchymal chondromyxoid tumors (ECTs) are rare. Only approximately 55 cases have been reported in the English literature. Distinguishing ECTs from soft tissue myoepithelioma (STM) is often difficult owing to morphological and immunohistochemical similarities. Here, we present a case of an ECT arising from the anterior dorsum of the tongue in a 24-year-old woman. Grossly, the tumor was soft, had a myxoid appearance, and measured 8×7×7 mm. Microscopically, it was well-demarcated, lacked a fibrous capsule, and predominantly consisted of short, spindle to ovoid cells in a myxoid background. Vimentin, glial fibrillary acidic protein (GFAP), and S-100 protein were strongly positive on immunohistochemical analysis. While CD56 was moderately immunopositive, cytokeratin (AE1/AE3) and alpha-smooth muscle actin (αSMA) showed focal weak positivity. Thus, the immunohistochemical findings suggested a diverse immunophenotype, indicating mesenchymal (vimentin and αSMA positive), neurogenic (S100, GFAP, and CD56 positive), and epithelial differentiation (cytokeratin positive). This reflected the fact that ECTs probably arise from uncommitted ectomesenchymal cells that have the potential for multilineage differentiation. The immunohistochemical staining pattern observed for ECTs slightly differs from that of STMs. Strongly positive staining for GFAP and weakly positive staining for cytokeratin are observed in ECTs, whereas the opposite is typically observed for STMs. These findings indicated that the patterns of expression on immunohistochemistry differ between ECTs and STMs, although inevitably, there was some overlap. Thus, CD56 expression in the case presented here is noteworthy, and it could potentially become an adjunct diagnostic marker for ECT instead of previously used CD57.
Topics: Biomarkers, Tumor; Biopsy; CD56 Antigen; CD57 Antigens; Chondroma; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Immunophenotyping; Mesenchymoma; Myoepithelioma; Predictive Value of Tests; Tongue Neoplasms; Young Adult
PubMed: 26045862
DOI: No ID Found -
World Journal of Surgical Oncology May 2015Tumor-induced osteomalacia (TIO) is a rare disorder, which is commonly found in craniofacial locations and in the extremities. To the best of our knowledge, only 16... (Review)
Review
BACKGROUND
Tumor-induced osteomalacia (TIO) is a rare disorder, which is commonly found in craniofacial locations and in the extremities. To the best of our knowledge, only 16 cases have been described in the spine, and this is the first report to describe a case of patient with TIO in the thoracic spine combined with a mesenchymal hamartoma which had confused the therapeutic strategies to date.
CASE DESCRIPTION
We report the case of a 60-year-old patient with hypophosphatemia and presented with limb weakness. Treating with phosphate did not correct the hypophosphatemia and an (111)In pentetreotide scintigraphy (octreotide scan) revealed an increased uptake at the right forearm. The tumor was resected totally, and the histopathology revealed a mesenchymal hamartoma, but we noticed that hypophosphatemia was not corrected after the tumor resection. Then a whole-body magnetic resonance imaging (WB-MRI) was performed and the results revealed tumorous tissues at the right T1 vertebral pedicle. The tumor was removed with an en bloc method, and the pathology showed phosphaturic mesenchymal tumor. Follow-up at 1 year after surgery revealed no recurrence, and the serum phosphorus level of the patient was normal.
CONCLUSIONS
Tumor-induced osteomalacia is exceedingly rare with only 16 cases in spine published in the literature. It is difficult to find and leads to years of suffering debilitating complications. In this regard, the WB-MRI is a better method to locate the real tumor. Treating with phosphate can only relieve symptoms, and a complete surgical removal remains the gold standard treatment.
Topics: Humans; Hypophosphatemia; Indium Radioisotopes; Magnetic Resonance Imaging; Male; Mesenchymoma; Middle Aged; Octreotide; Osteomalacia; Positron-Emission Tomography; Spinal Neoplasms
PubMed: 25951872
DOI: 10.1186/s12957-015-0589-3 -
World Journal of Surgical Oncology Feb 2015Primary hepatic sarcoma (PHS) is a rare primary liver malignancy. The histological types of PHS are diverse, and the clinical outcomes and management mainly depend on...
BACKGROUND
Primary hepatic sarcoma (PHS) is a rare primary liver malignancy. The histological types of PHS are diverse, and the clinical outcomes and management mainly depend on the histopathology. This study aims to evaluate the results of surgical intervention.
METHODS
Between January 2003 and June 2009, 13 adult patients with pathologically proven PHS were identified by record review. The patients' demographic profile, tumor characteristics, treatment modalities, and outcomes were reviewed and analyzed. The end of follow-up was December 2014.
RESULTS
Nine (69%) underwent curative liver resection and two underwent liver transplantation; the others received non-operative treatments. The pathologic findings were six (46%) angiosarcomas, four (30.7%) undifferentiated sarcomas, one (7.6%) leiomyosarcoma, one (7.6%) malignant mesenchymoma, and one (7.6%) hepatic epithelioid hemangioendothelioma. The median follow-up was 31.4 (2.8 ~ 142.5) months. The 1-, 2-, and 5-year survival of surgical patients were 72.7%, 63.6%, and 36.4%, respectively. Importantly, the 1-, 2-, and 5-year survival rates of non-angiosarcoma patients were superior to those of angiosarcoma (85.7% vs. 33.3%, 71.4% vs. 16.7%, and 57.1% vs. 0%, respectively, P = 0.023).
CONCLUSIONS
Surgical intervention provides the possibility of long-term survival from PHS. Angiosarcoma is associated with a more dismal outcome than non-angiosarcoma.
Topics: Adult; Aged; Female; Follow-Up Studies; Hemangiosarcoma; Humans; Leiomyosarcoma; Liver Neoplasms; Male; Mesenchymoma; Middle Aged; Neoplasm Recurrence, Local; Neoplasm Staging; Prognosis; Retrospective Studies; Survival Rate; Young Adult
PubMed: 25880743
DOI: 10.1186/s12957-015-0489-6