Search Our Scientific Publications & Authors

Am J Med Genet A 2021 May 14. Epub 2021 May 14.

Department of Twin Research and Genetic Epidemiology, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.

Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant condition characterized by carpal-tarsal abnormalities; over half of affected individuals also develop renal disease. MCTO is caused by mutations of MAFB; however, there is no clear phenotype-genotype correlation. We describe the first reported family of variable MCTO phenotype due to mosaicism: the proband had classical skeletal features and renal involvement due to focal segmental glomerulosclerosis (FSGS), and the father had profound renal impairment due to FSGS, necessitating kidney transplantation. Read More

Matters (Zur) 2021 29;2021. Epub 2021 Jan 29.

Center for Neurotherapeutics Discovery, Department of Neuroscience, Department of Immunology and Microbiology, Department of Neurology, Department of Pediatrics, University of Rochester Medical Center.

Microglia experience dramatic molecular and functional changes when transferred from the central nervous system (CNS) to a cell culture environment. Investigators largely attribute these findings to the loss of CNS-specific microenvironmental cues that dictate the gene-regulatory networks specified by master regulator transcription factors such as V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MafB). MafB regulates macrophage differentiation and activation by activating or repressing target genes critical to these processes. Read More

J Oral Maxillofac Pathol 2020 Sep-Dec;24(3):589. Epub 2021 Jan 9.

Department of Oral Surgery, Government Dental College, Raipur, Chhattisgarh, India.

Osteosarcoma (OS) accounts for about 20% of all sarcomas with gnathic involvement seen in about 6%-10% of all OSs. The clinical presentation of OSs in the jaws is different from that of long bones as swelling is the most common complaint in patients with jaw OS followed by pain. The histopathologic variables seen are more favorable in OSs of jaws. Read More

JBJS Case Connect 2021 05 6;11(2). Epub 2021 May 6.

First Department of Orthopaedic Surgery, National and Kapodistrian University of Athens, Medical School, ATTIKON University General Hospital, Athens, Greece.

Case: We present a case of a 35-year-old-man with a giant sclerosing epithelioid fibrosarcoma (SEF) of the thigh. The patient presented with a history of a painful thigh mass. Plain radiographs revealed a soft-tissue mass with extensive calcifications, whereas on magnetic resonance imaging, a lobulated mass between the adductors and the posterior muscles of the thigh was noted. Read More

J Nanobiotechnology 2021 May 5;19(1):128. Epub 2021 May 5.

Tumor Biology and Vascular Targeting Unit, Division of Experimental Oncology, IRCCS San Raffaele Scientific Institute, via Olgettina 58, 20132, Milan, Italy.

Background: Gold nanospheres tagged with peptides containing isoDGR (isoAsp-Gly-Arg), an αvβ3 integrin binding motif, represent efficient carriers for delivering pro-inflammatory cytokines to the tumor vasculature. We prepared bi- or trifunctional nanoparticles bearing tumor necrosis factor-α (TNF) and/or interleukin-12 (IL12) plus a peptide containing isoDGR, and we tested their anti-cancer effects, alone or in combination with doxorubicin, in tumor-bearing mice.

Results: In vitro biochemical studies showed that both nanodrugs were monodispersed and functional in terms of binding to TNF and IL12 receptors and to αvβ3. Read More

Am J Surg Pathol 2021 Jun;45(6):854-867

Genetics Unit, Department of Tumor Biology.

VGLL2-rearranged rhabdomyosarcomas (RMS) are rare low-grade tumors with only favorable outcomes reported to date. We describe 4 patients with VGLL2-rearranged RMS confirmed by molecular studies, who experienced local progression and distant metastases, including 2 with fatal outcomes. Tumors were diagnosed at birth (n=3) or at 12 months of age (n=1), and were all localized at initial diagnosis, but unresectable and therefore managed with chemotherapy and surveillance. Read More

Front Cell Dev Biol 2021 16;9:636778. Epub 2021 Apr 16.

Department of Immunology, UConn Health, Farmington, CT, United States.

Inhibitors targeting cyclic nucleotide phosphodiesterases (PDEs) expressed in leukocytes have entered clinical practice to treat inflammatory disorders, with three PDE4 inhibitors currently in clinical use as therapeutics for psoriasis, psoriatic arthritis, atopic dermatitis and chronic obstructive pulmonary disease. In contrast, the PDE8 family that is upregulated in pro-inflammatory T cells is a largely unexplored therapeutic target. It was shown that PDE8A plays a major role in controlling T cell and breast cancer cell motility, including adhesion to endothelial cells under physiological shear stress and chemotaxis. Read More

Molecules 2021 Apr 26;26(9). Epub 2021 Apr 26.

Ph.D. Program in Drug Discovery and Development Industry, College of Pharmacy, Taipei Medical University, 250 Wu Xin Street, Taipei 11031, Taiwan.

In this novel study, we isolated 28 compounds from the leaves of (Lour.) Gilg based on a bioassay-guided procedure and also discovered the possible matrix metalloprotease 2 (MMP-2) and 9 (MMP-9) modulatory effect of pheophorbide A (PA). To evaluate the regulatory activity on MMP-2 and MMP-9, the HT-1080 human fibrosarcoma cells were treated with various concentrations of extracted materials and isolated compounds. Read More

Radiat Res 2021 Apr 29. Epub 2021 Apr 29.

Department of Radiotherapy, The Netherlands Cancer Institute, Amsterdam, The Netherlands.

Currently, all soft tissue sarcomas (STS) are irradiated by the same regimen, disregarding possible subtype-specific radiosensitivities. To gain further insight, cellular radiosensitivity was investigated in a panel of sarcoma cell lines. Fourteen sarcoma cell lines, derived from synovial sarcoma, leiomyosarcoma, fibrosarcoma and liposarcoma origin, were submitted to clonogenic survival assays. Read More

In Vivo 2021 May-Jun;35(3):1467-1472

Department of Pathology, Division of Pathomorphology and Forensic Veterinary Medicine, Wroclaw University of Environmental and Life Sciences, Wroclaw, Poland.

Background/aim: Endosialin is present in human fibrosarcoma neoplastic cells. This study aimed to analyse the expression of selected cellular proteins found in fibrosarcomas and soft-tissue fibroids in dogs.

Materials And Methods: A total of 71 skin tumours obtained from dogs were used. Read More

Cesk Patol 2021 ;57(1):19-29

Recent years have brought an immense increase of knowledge regarding the molecular genetic background of mesenchymal tumors which in turn has significantly expanded the repertoire of molecular markers available for the routine diagnostic practice. This progress has also been followed by a rising number of available immunohistochemical markers useful for the diagnosis of soft tissue neoplasia. Both lineage specific and tumor-specific immunohistochemical antibodies have been discovered and subsequently tested in the surgical pathology practice. Read More

Stem Cell Res 2021 Mar 26;53:102281. Epub 2021 Mar 26.

Department of Pediatrics, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address:

Noonan Syndrome (NS) is an inherited autosome dominant disorder syndrome, which can be caused by the mutations of serine/threonine kinase rapidly accelerated fibrosarcoma 1 (RAF1) gene. Here, an induced pluripotent stem cell (iPSC) line named WMUi022-A derived from urine cells (UCs) of a 9-year-old male NS patient with the heterozygote RAF1 gene mutation p.S257L (c. Read More

Analyst 2021 Apr;146(8):2581-2590

School of Chemistry and Chemical Engineering, State Key Laboratory of Metal Matrix Composites, Shanghai Jiao Tong University, Shanghai 200240, People's Republic of China.

The mitogen-activated protein kinase (MAPK) pathway is a major module for cellular signal transduction. The dysregulation of the MAPK pathway has been involved in the pathogenesis of multiple diseases ranging from cancers to chronic inflammations. So far, we have not fully understood the influences of external factors and signaling networks on the MAPK pathway due to the lack of in situ methods for simultaneous detection of multiple kinases in the pathway in living cells. Read More

Nanomedicine (Lond) 2021 Apr 23;16(10):839-853. Epub 2021 Apr 23.

National Engineering Laboratory for Modern Silk, College of Textile & Clothing Engineering, Soochow University, Industrial Park, Suzhou, 215123, Jiangsu, China.

To obtain a gene carrier that can effectively deliver loaded therapeutic genes to tumor cells, avoid toxic effects on normal cells and reduce nonspecific adsorption of plasma proteins.  The conjugate of poly(ethylene glycol) (PEG) and MMP2SSP (PEG-MMP2SSP) was covalently coupled to cationized silk fibroin (CASF) through disulfide bond exchange reaction to obtain a PEG-MMP2SSP-modified CASF (CASFMP). The PEG chains were effectively cleaved from the CASFMP by MMP2. Read More

J Med Case Rep 2021 Apr 20;15(1):180. Epub 2021 Apr 20.

Unit of Reconstructive and Plastic Surgery, Azienda Ospedaliero Universitaria Ospedali Riuniti di Foggia, 71122, Foggia, Italy.

Background: Dermatofibrosarcoma protuberans (DFSP) is a rare skin fibroblastic tumor, with a high rate of recurrence. The treatment of DFSP is generally surgical, and wide local excision is the mainstay of surgical treatment. Therefore, complete assessment of all surgical margins is fundamental before definitive reconstruction. Read More

Mol Ther Nucleic Acids 2021 Jun 13;24:385-402. Epub 2021 Mar 13.

Jiangsu Key Laboratory of Neuropsychiatric Diseases and Institute of Neuroscience, Soochow University, Suzhou 215123, China.

Osteosarcoma (OS) is the most common primary bone malignancy in the adolescent population. MAFG (v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G) forms a heterodimer with Nrf2 (NF-E2-related factor 2), binding to antioxidant response element (ARE), which is required for Nrf2 signaling activation. We found that mRNA and protein expression is significantly elevated in human OS tissues as well as in established and primary human OS cells. Read More

Auris Nasus Larynx 2021 Apr 15. Epub 2021 Apr 15.

Department of Diagnostic Pathology, Kyoto University Hospital, 54 Shogoin Kawahara-cho, Kyoto 606-8507, Japan.

Ameloblastic fibrosarcoma (AFS) is the most common odontogenic sarcoma, but the incidence is relatively low, and its molecular biology is poorly understood. We experienced a young female patient with a rapidly growing soft tissue tumor of the left maxilla, which eventually occupied the left side of the oral cavity. Histologically, the tumor mainly consisted of a proliferation of atypical spindle to polygonal cells without any specific differentiation, but a small number of benign odontogenic epithelial foci mainly in the tumor periphery were also noted; thus, a diagnosis of AFS was made. Read More

Theranostics 2021 11;11(11):5313-5329. Epub 2021 Mar 11.

Department of Cancer Physiology, Moffitt Cancer Center, Tampa, US.

Hypoxic regions (habitats) within tumors are heterogeneously distributed and can be widely variant. Hypoxic habitats are generally pan-therapy resistant. For this reason, hypoxia-activated prodrugs (HAPs) have been developed to target these resistant volumes. Read More

Sci Rep 2021 Apr 15;11(1):8258. Epub 2021 Apr 15.

Department of Radiation Science, Graduate School of Health Sciences, Hirosaki University, 66-1 Hon-cho, Hirosaki, Aomori, 036-8564, Japan.

Hyaluronan synthesis inhibitor 4-methylumbelliferone (4-MU) is a candidate of radiosensitizers which enables both anti-tumour and anti-metastasis effects in X-ray therapy. The curative effects under such 4-MU administration have been investigated in vitro; however, the radiosensitizing mechanisms remain unclear. Here, we investigated the radiosensitizing effects under 4-MU treatment from cell experiments and model estimations. Read More

Mod Pathol 2021 Apr 13. Epub 2021 Apr 13.

Department of Pathology, Oregon Health & Science University, Portland, OR, USA.

Infantile fibrosarcoma (IFS)/cellular congenital mesoblastic nephroma (cCMN) commonly harbors the classic ETV6-NTRK3 translocation. However, there are recent reports of mesenchymal tumors with IFS-like morphology harboring fusions of other receptor tyrosine kinases or downstream effectors, including NTRK1/2/3, MET, RET, and RAF1 fusions as well as one prior series with BRAF fusions. Discovery of these additional molecular drivers contributes to a more integrated diagnostic approach and presents important targets for therapy. Read More

Nucl Med Biol 2021 Mar 26;96-97:61-67. Epub 2021 Mar 26.

Radiation Biology and Health Sciences Division, Bhabha Atomic Research Centre, Mumbai 400085, India. Electronic address:

Introduction: By virtue of their oxygen dependant accumulation in hypoxic cells, radiolabeled nitroimidazole analogues have been widely used for detecting tumor hypoxia. Present study evaluates two 2-nitroimidazole (2-NIM) based Ga-labeled radiotracers, [Ga]Ga-DOTAGA-2-NIM and [Ga]Ga-NODAGA-2-NIM, for hypoxia targeting applications.

Methods: Bifunctional chelating agents suitable for radiolabeling with Ga, viz. Read More

J Zoo Wildl Med 2021 Apr;52(1):332-336

College of Veterinary Medicine, University of Illinois at Urbana-Champaign, Urbana, IL 61802, USA,

Giraffes () are commonly managed in zoos and conservation programs worldwide, but the current understanding of the occurrence and progression of neoplastic disease in this species is limited by the scarcity of published reports. This study collated documented cases of neoplasia on the basis of gross and histologic evaluation of ante- and postmortem samples. In total, 30 giraffes from 22 institutions across the United States were included. Read More

Plants (Basel) 2021 Mar 23;10(3). Epub 2021 Mar 23.

Departamento de Bioquímica, Universidade Federal de São Paulo (UNIFESP), 04044-020 São Paulo, SP, Brazil.

Metastasis, the primary cause of death from malignant tumors, is facilitated by multiple protease-mediated processes. Thus, effort has been invested in the development of protease inhibitors to prevent metastasis. Here, we investigated the effects of protease inhibitors including the recombinant inhibitors rBbKI (serine protease inhibitor) and rBbCI (serine and cysteine inhibitor) derived from native inhibitors identified in seeds, and EcTI (serine and metalloprotease inhibitor) isolated from the seeds of on the mouse fibrosarcoma model (lineage L929). Read More

Cancers (Basel) 2021 Mar 4;13(5). Epub 2021 Mar 4.

Department of Radiation Oncology, Gunma University Graduate School of Medicine, 3-39-22, Showa-machi, Maebashi, Gunma 371-8511, Japan.

Management of patients with bone sarcoma who are unsuitable for surgery is challenging. We aimed to analyze the clinical outcomes among such patients who were treated with carbon ion radiotherapy (C-ion RT). We reviewed the medical records of the patients treated with C-ion RT between April 2011 and February 2019 and analyzed the data of 53 patients. Read More

Diagnostics (Basel) 2021 Mar 9;11(3). Epub 2021 Mar 9.

Department of Pathology, Antwerp University Hospital, 2650 Edegem, Belgium.

Tropomyosin receptor kinase (TK) is encoded by the neurotrophic tyrosine receptor kinase genes () 1, 2, and 3, whose activation plays an important role in cell cycle proliferation and survival. Fusions of one of these genes can lead to constitutive activation of TRK, which can potentially be oncogenic. fusions are commonly present in rare histologic tumor types. Read More

Int J Mol Sci 2021 Mar 2;22(5). Epub 2021 Mar 2.

DMEM (Dynamique du Muscle et Métabolisme), INRAE, University Montpellier, 34060 Montpellier, France.

P43 is a truncated form of thyroid hormone receptor α localized in mitochondria, which stimulates mitochondrial respiratory chain activity. Previously, we showed that deletion of p43 led to reduction of pancreatic islet density and a loss of glucose-stimulated insulin secretion in adult mice. The present study was designed to determine whether p43 was involved in the processes of β cell development and maturation. Read More

Hum Pathol 2021 Mar 29. Epub 2021 Mar 29.

NeoGenomics Laboratories, Inc., 92656, United States.

The NTRK genes include a family of three genes, NTRK1, NTRK2, and NTRK3, which are associated with fusions with a variety of partner genes, leading to upregulation of three proteins, TrkA, TrkB, and TrkC. NTRK fusions occur in a variety of solid tumors: at high incidence in secretory carcinoma of the breast and salivary glands, congenital mesoblastic nephroma, and infantile fibrosarcoma; at intermediate incidence in thyroid carcinoma, particularly postradiation carcinomas and a subset of aggressive papillary carcinomas, Spitzoid melanocytic neoplasms, pediatric midline gliomas (particularly pontine glioma), and KIT/PDGFRA/RAS negative gastrointestinal stromal sarcomas; and at a low incidence in many other solid tumors. With new FDA-approved treatments available and effective in treating patients whose tumors harbor NTRK fusions, testing for these fusions has become important. Read More

Pediatr Blood Cancer 2021 Mar 25:e29022. Epub 2021 Mar 25.

Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

Objective: Disease spectrum in pediatric sarcoma differs substantially from adults. We report a cohort of very young children with non-rhabdomyosarcoma soft tissue sarcoma (NRSTS) detailing their molecular features, treatment, and outcome.

Methods: We report features of consecutive children (age <2 years) with NRSTS (2000-2017). Read More

Medicine (Baltimore) 2021 Mar;100(12):e24697

Department of Pathology, Lanzhou University Second Hospital, Lanzhou, Gansu Province, China.

Rationale: Carcinosarcoma and sarcomatoid carcinoma of the stomach are rare, malignant, and biphasic tumors with high mortality. The differential diagnosis of these 2 diseases remains challenging. In the present study, we present 2 cases of carcinosarcoma and sarcomatoid carcinoma of the stomach. Read More

Redox Biol 2021 May 6;41:101936. Epub 2021 Mar 6.

Department of Infectious Diseases, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, China. Electronic address:

Recently, numerous evidence has revealed that excessive reactive oxygen species (ROS) production and mitochondrial disruption during acute lung injury (ALI) and its most severe form, acute respiratory distress syndrome (ARDS) will aggravate the inflammatory process. To identify whether antioxidation can be one of the treatment strategies during this progress, we chose mitoQ, a mitochondria-targeted antioxidant that was proved to be effective in reducing ROS generated in mitochondria, as a ROS scavenger to investigate the role of antioxidation in ALI. We demonstrated that overoxidation occurred during the process of ALI, which could be reduced by mitoQ. Read More