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https://www.readbyqxmd.com/read/29767839/jak2-v617f-positive-acute-myeloid-leukaemia-aml-a-comparison-between-de-novo-aml-and-secondary-aml-transformed-from-an-underlying-myeloproliferative-neoplasm-a-study-from-the-bone-marrow-pathology-group
#1
Jason Aynardi, Rashmi Manur, Paul R Hess, Seble Chekol, Jennifer J D Morrissette, Daria Babushok, Elizabeth Hexner, Heesun J Rogers, Eric D Hsi, Elizabeth Margolskee, Attilio Orazi, Robert Hasserjian, Adam Bagg
The JAK2 V617F mutation is characteristic of most Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) and occurs rarely in de novo acute myeloid leukaemia (AML). We sought to characterize AMLs that harbour this mutation and distinguish those that arise de novo (AML-DN) from those that reflect transformation of an underlying MPN (AML-MPN). Forty-five patients with JAK2 V617F-mutated AML were identified; 15 were AML-DN and 30 were AML-MPN. AML-MPN cases were more likely to have splenomegaly (P = 0·02), MPN-like megakaryocytes and higher mean JAK2 V617F VAF at diagnosis (P = 0·04)...
May 16, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29764500/the-role-of-initial-18-f-fdg-pet-ct-in-the-management-of-patients-with-suspected-extramedullary-plasmocytoma
#2
Linqi Zhang, Xu Zhang, Qiao He, Rusen Zhang, Wei Fan
BACKGROUND: Extramedullary plasmacytoma (EMP) is a plasma cell malignancy that originates in soft tissues without evidence of systemic spread, and its management differs from other plasma cell neoplasms. The purpose of the present study was to evaluate the role of initial 18 F-FDG PET/CT in the management of patients with clinical suspected EMP. METHODS: 18 F-FDG PET/CT scans performed in 21 patients (M/F = 12/9, mean age 51.1 ± 15.3 years) with clear suspicion of EMP from 2006 to 2015 were analysed retrospectively...
May 15, 2018: Cancer Imaging: the Official Publication of the International Cancer Imaging Society
https://www.readbyqxmd.com/read/29764021/-misdiagnosic-analysis-and-treatment-of-pyriform-sinus-fistula-in-children
#3
J Ma, C Ming, F Lou, M L Wang, K Lin, W J Zeng, Z C Li, X F Liu, T S Zhang
Objective: To discuss the misdiagnosis of pyriform sinus fistula and to better understand this kind of illness. Methods: The analysis was based on twenty-eight patients with congenital pyriform sinus fistula aged from 11 months to 14 years, with the median age of 5 years, and who were surgically treated from January 2013 to January 2017 in Kunming Children's Hospital.Twenty patients were misdiagnosed in other hospital.After the routine examination of neck ultrasound and enhanced CT, internal fistula was found by self-retaining laryngoscope, traced by methylene blue, and excised by high ligation...
May 7, 2018: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/29762324/a-giant-congenital-soft-tissue-sinonasal-fibromyxoma-of-the-nose-in-a-newborn-baby
#4
Nur Yucel Ekici, Gül Yucel, Suheyl Haytoğlu, Özgür Küllahci
Myxomas of the nose are very rare benign neoplasms. They grow slowly, infiltrate the surrounding bone cortex, and develop multiple local recurrences with no distant metastasis. Almost, even knowing seen at any age, it is very rare in newborn. The authors present a patient with sinonasal soft tissue fibromyxoma in a newborn baby nose followed by the literature.
May 14, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29761371/tolerability-and-efficacy-of-deferasirox-in-patients-with-transfusional-iron-overload-results-from-a-german-2-year-non-interventional-study
#5
Florian Nolte, Holger Nückel, Burkhard Schmidt, Thomas Geer, Oleg Rubanov, Holger Hebart, Andrea Jarisch, Stefan Albrecht, Christiane Johr, Christiane Schumann, Wolf-Karsten Hofmann
BACKGROUND: Iron overload (IOL) due to repetitive transfusions of packed red blood cells (pRBC) has a major impact on morbidity and mortality in patients with inherited bone marrow failure syndromes and hemoglobinopathies such as thalassemia and sickle cell disease. However, whether IOL influences the outcome of elderly patients with myeloid malignancies is not yet clear. Moreover, clinical trials have reported high drop-out rates during treatment with the oral iron chelator deferasirox (DFX)...
May 14, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29761076/synchronous-bone-metastasis-from-multiple-myeloma-and-prostate-adenocarcinoma-as-initial-presentation-of-coexistent-malignancies
#6
Diego Andres Adrianzen Herrera, Shlomit Goldberg-Stein, Alexander Sankin, Judy Sarungbam, Janaki Sharma, Benjamin A Gartrell
The radiographic appearance of bone metastases is usually determined by tumor histology and can be osteolytic, osteoblastic, or mixed. We present a patient with coexistent bone metastasis from multiple myeloma and prostate adenocarcinoma who exhibited synchronous bone involvement of both histologies within the same bone lesion, a rare phenomenon that has not been previously reported and led to atypical radiographic findings. The radiograph of a 71-year-old man with thigh swelling and pain demonstrated a lytic femoral lesion...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29743489/magnetic-mesoporous-calcium-sillicate-chitosan-porous-scaffolds-for-enhanced-bone-regeneration-and-photothermal-chemotherapy-of-osteosarcoma
#7
Fan Yang, Jiawei Lu, Qinfei Ke, Xiaoyuan Peng, Yaping Guo, Xuetao Xie
The development of multifunctional biomaterials to repair bone defects after neoplasm removal and inhibit tumor recurrence remained huge clinical challenges. Here, we demonstrate a kind of innovative and multifunctional magnetic mesoporous calcium sillicate/chitosan (MCSC) porous scaffolds, made of M-type ferrite particles (SrFe12 O19 ), mesoporous calcium silicate (CaSiO3 ) and chitosan (CS), which exert robust anti-tumor and bone regeneration properties. The mesopores in the CaSiO3 microspheres contributed to the drug delivery property, and the SrFe12 O19 particles improved photothermal therapy (PTT) conversion efficacy...
May 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29741776/skewed-megakaryopoiesis-in-human-induced-pluripotent-stem-cell-derived-haematopoietic-progenitor-cells-harbouring-calreticulin-mutations
#8
Hiraku Takei, Yoko Edahiro, Shuichi Mano, Nami Masubuchi, Yoshihisa Mizukami, Misa Imai, Soji Morishita, Kyohei Misawa, Tomonori Ochiai, Satoshi Tsuneda, Hiroshi Endo, Sou Nakamura, Koji Eto, Akimichi Ohsaka, Marito Araki, Norio Komatsu
Somatic mutations in the calreticulin (CALR) gene have been found in most patients with JAK2- and MPL-unmutated Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs). It has recently been shown that mutant CALR constitutively activates the thrombopoietin receptor MPL and, thus, plays a causal role in the development of MPNs. However, the roles of mutant CALR in human haematopoietic cell differentiation remain predominantly elusive. To examine the impact of the 5-base insertion mutant CALR gene (Ins5) on haematopoietic cell differentiation, we generated induced pluripotent stem cells from an essential thrombocythaemia (ET) patient harbouring a CALR-Ins5 mutation and from a healthy individual (WT)...
May 9, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29741774/management-of-post-transplant-lymphoproliferative-disorders
#9
REVIEW
Christin B DeStefano, Sanjal H Desai, Aarthi G Shenoy, Joseph P Catlett
The post-transplant lymphoproliferative disorders (PTLDs) are a heterogeneous group of neoplasms that are one of the most serious complications of bone marrow and solid organ transplants. Because these disorders are rare, there are no randomized trials from which to derive optimal treatment. Management can be challenging and must balance the goal of PTLD eradication with the risks of graft rejection, graft-versus-host disease, further delays in immune reconstitution and life-threatening infections, among others...
May 9, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29741203/peptide-receptor-radionuclide-therapy-for-advanced-gastroenteropancreatic-neuroendocrine-tumors-from-oncology-perspective
#10
Agnieszka Kolasińska-Ćwikła, Anna Łowczak, Katarzyna Maciejkiewicz Maciejkiewicz, Jarosław Bogdan Ćwikła
Peptide Receptor Radionuclide Therapy (PRRT) is a form of molecular targeted therapy which is performed by using a small peptide (somatostatin analogue - SSA) that is coupled with a radionuclide beta emitting radiation. PRRT is a nuclear medicine for the systemic treatment of non-resectable, metastasized well/moderately differentiated, neuroendocrine tumours (NET) with overexpression of somatostatin receptor. These types of tumours include gastroenteropancreatic neoplasm (GEP-NENs), e.g. arising from the small bowel (often called carcinoid tumours), the pancreas, duodenum or stomach, but also from the large bowel or the lung and many other tissues (so called diffuse neuroendocrine system)...
2018: Nuclear Medicine Review. Central & Eastern Europe
https://www.readbyqxmd.com/read/29735506/blastic-plasmacytoid-dendritic-cell-neoplasm-a-rare-case-of-gingival-lesion-with-leukaemic-presentation
#11
Massimo Viviano, Serena Cocca, Clelia Miracco, Stefano Parrini
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare haematological malignancy with an aggressive clinical course. It has been recognised as a distinct entity in the WHO 2008 classification of haematolymphoid neoplasm. This disease usually presents with cutaneous involvement as the first manifestation, with subsequent or simultaneous spread to bone marrow and peripheral blood with leukaemic dissemination. Gingival lesion as the first manifestation, in the absence of a cutaneous lesion, is an uncommon presentation of this rare disease...
May 7, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29735505/osteitis-fibrosa-cystica-masquerading-as-bone-neoplasm
#12
Vishnu Vardhan Garla, Israh Akhtar, Sohail Salim, Angela Subauste
A 50-year-old female patient with no significant medical history presented with left knee pain. Radiographs of the knee showed a circumferential swelling of the distal femur suggestive of neoplasia. Further evaluation revealed multiple lesions in the left iliac bone and proximal femur. Biopsy was suggestive of a reparative granuloma or an aneurysmal bone cyst. Laboratory assessment showed hypercalcaemia and elevated parathyroid hormone consistent with severe primary hyperparathyroidism. Osseous survey was significant for salt and pepper appearance of the skull...
May 7, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29732272/multiple-myeloma-with-primary-manifestation-in-the-mandible
#13
Ibrahim K Ali, Amit R Parate, Vikrant O Kasat, Amaresh Dora
Multiple myeloma (MM) is a malignant neoplasm of plasma cell origin. It usually has a multicentric origin within the bone. It contributes to about 1% of all malignancies and 15% of all hematologic malignancies. There is a monoclonal proliferation of abnormal plasma cells in this disease that results from a single malignant precursor that has undergone an uncontrolled mitotic division. Later, these cells produce one type of immunoglobulin light chain, either kappa or lambda. We present a case of a 46‑year‑old male patient who presented with a swelling of the mandible...
March 3, 2018: Curēus
https://www.readbyqxmd.com/read/29732039/jak-2-mutation-frequency-in-patients-with-thrombocytosis
#14
Osman Yokus, Habip Gedik
Background: We aimed to investigate the etiologic causes and the existence of Janus kinase 2 mutation (JAK2) in cases with thrombocytosis. Methods: In this retrospective study, patients who were admitted to hematology clinic with thrombocytosis between 2013 and 2015 were investigated in terms of the etiological causes of thrombocytosis and the existence of JAK2 mutation. Results: We retrospectively evaluated 136 cases that underwent JAK2 mutation analysis due to ET preliminary diagnosis in our hematology clinic...
2018: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29731882/autologous-stem-cell-transplantation-in-ebv-positive-post-renal-transplant-refractory-multiple-myeloma-a-case-report-and-literature-review
#15
Xiaobao Xie, Yan Lin, Yang Cao, Weimin Dong, Wei Wu, Yuandong Zhu, Deliang Liu, Haiqian Li, Qing Li, Weiying Gu
Renal transplant recipients exhibit an increased risk of developing plasma cell neoplasms (PCNs; comprising multiple myeloma and plasmacytoma); however, multiple myeloma manifesting with refractory extramedullary plasmacytomas associated with Epstein-Barr virus are markedly rare in these patients. In the present case report, an unusual case of refractory multiple myeloma with multiple extramedullary plasmacytoma (including liver, vertebrae, breast, muscle, skin and soft tissues) was presented. The patient exhibited mild bone marrow infiltration which was successfully treated with novel agents, including bortezomib and lenalidomide, followed by autologous stem cell transplantation (ASCT)...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29728434/focal-segmental-glomerulosclerosis-in-a-patient-with-prefibrotic-primary-myelofibrosis
#16
Gopal Krishana Bohra, Durga Shankar Meena, Nitin Bajpai, Abhishek Purohit
We report a case of 56-year-old man presented to us with chief complaints of frothy urine and leg swelling. A urinalysis revealed nephrotic-range proteinuria. Haematological investigations revealed thrombocytosis, leucocytosis and peripheral blood smear showed a leucoerythroblastic picture. JAK 2 mutation was positive. To confirm the diagnosis of myeloproliferative neoplasm, bone marrow biopsy was done, which was suggestive of primary myelofibrosis. The patient underwent kidney biopsy due to rapidly declining renal function and persistent proteinuria, which was suggestive of focal segmental glomerulosclerosis...
May 4, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29728178/marginal-versus-segmental-mandibulectomy-for-pediatric-desmoid-fibromatosis-of-the-mandible-two-case-reports-and-review-of-the-literature
#17
Janet W Lee, Arnaud F Bewley, Craig W Senders
Desmoid fibromatosis (DF) is a rare, benign soft tissue neoplasm with high rate of local recurrence. Surgical management of DF in the head and neck can be challenging given the desire to balance the preservation of form and function with the need to minimize local recurrence by achieving complete resection. We present two contrasting cases which highlight the advantages of marginal mandibulectomy over segmental mandibulectomy in children with DF. We favor marginal mandibulectomy even with limited bone stock given the remarkable ability of children to generate new bone...
June 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29727699/pyrosequencing-based-quantitative-measurement-of-calr-mutation-allele-burdens-and-their-clinical-implications-in-patients-with-myeloproliferative-neoplasms
#18
Yejin Oh, Ik-Chan Song, Jimyung Kim, Gye Cheol Kwon, Sun Hoe Koo, Seon Young Kim
BACKGROUND: We developed a pyrosequencing-based method for the quantification of CALR mutations and compared the results using Sanger sequencing, fragment length analysis (FLA), digital-droplet PCR (ddPCR), and next-generation sequencing (NGS). METHODS: Method validation studies were performed using cloned plasmid controls. Samples from 24 patients with myeloproliferative neoplasms were evaluated. RESULTS: Among the 24 patients, 15 had CALR mutations (7 type 1, 2 type 2, and 6 other mutations)...
May 1, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29725854/metastasising-pleomorphic-salivary-adenoma-a-rare-case-report-of-a-massive-untreated-minor-salivary-gland-pleomorphic-adenoma-with-concurrent-ipsilateral-cervical-node-metastases
#19
Melanie Watson, Peter McAllister, Brendan Conn, Morna MacNeill, Thomas P B Handley
Salivary gland tumours constitute approximately 1-5% of all human neoplasms. Pleomorphic adenoma (PA) is the commonest benign neoplasm affecting the parotid gland most often (> 75%), followed by the submandibular gland (13%), then the palate (9%). Metastasising pleomorphic adenoma (MPA) is extremely rare. The effects can be severe and a reported 40% of MPA patients die with disease. This case represents the first known case in English literature of an untreated minor salivary gland PSA of the palate metastasising to an ipsilateral cervical node...
May 3, 2018: Head and Neck Pathology
https://www.readbyqxmd.com/read/29707521/evaluation-by-flow-cytometry-of-mature-monocyte-subpopulations-for-the-diagnosis-and-follow-up-of-chronic-myelomonocytic-leukemia
#20
Tiphanie Picot, Carmen Mariana Aanei, Pascale Flandrin Gresta, Pauline Noyel, Sylvie Tondeur, Emmanuelle Tavernier Tardy, Denis Guyotat, Lydia Campos Catafal
Chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative neoplasm, characterized by persistent monocytosis and dysplasia in at least one myeloid cell lineage. This persistent monocytosis should be distinguished from the reactive monocytosis which is sometimes observed in a context of infections or solid tumors. In 2015, Selimoglu-Buet et al. observed an increased percentage of classical monocytes (CD14+ /CD16- >94%) in the peripheral blood (PB) of CMML patients. In this study, using multiparametric flow cytometry (MFC), we assessed the monocytic distribution in PB samples and in bone marrow aspirates from 63 patients with monocytosis or CMML suspicion, and in seven follow-up blood samples from CMML patients treated with hypomethylating agents (HMA)...
2018: Frontiers in Oncology
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