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https://www.readbyqxmd.com/read/28748527/the-prevalence-of-dicer1-pathogenic-variation-in-population-databases
#1
Jung Kim, Amanda Field, Kris Ann P Schultz, D Ashley Hill, Douglas R Stewart
The DICER1 syndrome is associated with a variety of rare benign and malignant tumors, including pleuropulmonary blastoma (PPB), cystic nephroma (CN) and Sertoli-Leydig cell tumor (SLCT). The prevalence and penetrance of pathogenic DICER1 variation in the general population is unknown. We examined three publicly-available germline whole exome sequence datasets: Exome Aggregation Consortium (ExAC), 1000 Genomes (1000G), and the Exome Sequencing Project (ESP). To avoid over-estimation of pathogenic DICER1 variation from cancer-associated exomes, we excluded The Cancer Genome Atlas (TCGA) variants from ExAC...
July 27, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28728220/-diagnostic-utility-of-tyrosine-hydroxylase-in-peripheral-neuroblastic-tumors
#2
N Zhang, N Liu, L J He
Objective: To investigation the diagnostic utility of tyrosine hydroxylase (TH) immunohistochemically as a marker of peripheral neuroblastic tumors(pNT). Methods: The study included 1 024 cases, 643 primary and metastatic pNT cases, 381 non-pNT cases, including small round cell tumors such as primitive neuroectodermal tumor (PNET), rhabdomyosarcoma, lymphoma, nephroblastoma, as well as other more common tumors (medulloblastoma, hepatoblastoma, pleuropulmonary blastoma, renal clear cell sarcoma, Langerhans cell histiocytosis, lipoblatoma etc)...
July 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28688118/a-pair-of-dicer1-positive-monozygotic-twins-one-with-pleuropulmonary-blastoma-another-with-acute-transient-hepatitis
#3
Sihui Li, Siyu Cai, Xisi Wang, Dawei Zhang, Libing Fu, Qi Zeng, Xiaoxia Peng, Xiaoli Ma
Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children that is associated with a germline mutation in DICER1. In this report, we share an interesting case of a pair of monozygotic twins: one of them developed PPB when she was 4-year old, while the other developed acute transient hepatitis when she was 5-year old. Next-Gen sequencing for DICER1 mutations of their family revealed that both twins and their mother had c.C3675A mutation. The mother also had a history of multinodular goiter...
July 8, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28624956/dicer1-mutations-in-twelve-chinese-patients-with-pleuropulmonary-blastoma
#4
Siyu Cai, Xisi Wang, Wen Zhao, Libing Fu, Xiaoli Ma, Xiaoxia Peng
Our aim is to examine the impact of DICER1 mutations on the pathogenesis of pleuropulmonary blastoma (PPB) by evaluating the mutation frequency and investigating the family history of Chinese patients with PPB. The family histories of 12 children with PPB recruited consecutively were surveyed. Blood samples from patients and their first-degree relatives were tested for DICER1 mutations. Whole-genome sequencing of blood samples and formalin-fixed and paraffin-embedded (FFPE) tumor tissue was performed in one family with twins...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28620008/pten-dicer1-fh-and-their-associated-tumor-susceptibility-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#5
REVIEW
Kris Ann P Schultz, Surya P Rednam, Junne Kamihara, Leslie Doros, Maria Isabel Achatz, Jonathan D Wasserman, Lisa R Diller, Laurence Brugières, Harriet Druker, Katherine A Schneider, Rose B McGee, William D Foulkes
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28474256/pediatric-imaging-in-dicer1-syndrome
#6
Marta Tijerin Bueno, Claudia Martínez-Ríos, Alejandro De la Puente Gregorio, Rayan A Ahyad, Anita Villani, Harriet Druker, Kalene van Engelen, Bailey Gallinger, Laura Aronoff, Ronald Grant, David Malkin, Mary-Louise C Greer
BACKGROUND: DICER1 syndrome, arising from a mutation in the DICER1 gene mapped to chromosome 14q32, is associated with an increased risk of a range of benign and malignant neoplasms. OBJECTIVE: To determine the spectrum of abnormalities and imaging characteristics in patients with DICER1 syndrome at a tertiary pediatric hospital. MATERIALS AND METHODS: This retrospective analysis evaluated imaging in patients ≤18 years with DICER1 germline variants between January 2004 and July 2016...
May 4, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28469342/a-case-report-of-pleuropulmonary-blastoma-presenting-as-tension-pneumothorax
#7
Archana Addanki, Krishna Chaitanya, Sandip Bartakke, Srividya Sethuratnam
Pleuropulmonary blastoma (PPB) is a very rare, highly aggressive, and malignant tumor that originates from either lungs or pleura. It occurs mainly in children aged <5 or 6 years. It has poor prognosis with three different subtypes: cystic (type I), combined cystic and solid (type II), and solid (type III). PPB is treated with aggressive multimodal therapies including surgery and chemotherapy. We present a case of PPB in a 3-year-old girl who presented with tension pneumothorax.
January 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/28441828/-clinical-analysis-of-seven-cases-of-pulmonary-malignant-tumors-in-children
#8
D Xu, Z M Chen, W Z Gu, Y S Wang, M X Huang, L F Tang, Y Y Zhang, Y Jiang
Objective: To understand the clinical manifestation, imaging characteristics and outcomes of pulmonary malignant tumors in children. Method: We retrospectively collected information about seven cases of pulmonary malignant tumors in children in our hospital from Jan 2010 to Dec 2016. The information included clinical manifestation, imaging characteristics, pathologic results, and treatment. Result: (1) All the seven patients firstly visited pediatric internal medicine departments. Symptoms included cough (n=6), dyspnea (n=4), fever (n=2), anorexia (n=2), chest tightness (n=1), chest pain (n=1), lameness (n=1), abdominal distension and constipation (n=1)...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28405541/it-s-rare-so-be-aware-pleuropulmonary-blastoma-mimicking-congenital-pulmonary-airway-malformation
#9
Fayza Haider, Khulood Al Saad, Fatima Al-Hashimi, Hakima Al-Hashimi
Pleuropulmonary blastoma (PPB) is a rare aggressive malignant tumor of infancy and early childhood. The tumor arises in the lung and pleura and is regarded as a pulmonary dysontogenetic or embryonic neoplasm. Four types are defined in literature. Type I PPB is a rare, cystic lung neoplasm in infants characterized by subtle malignant changes and a good prognosis. Recurrences after type I PPB are usually advanced with a poor prognosis. We report this case to increase awareness about this entity so that the pediatricians, pediatric surgeons, radiologist, and pathologist recognize it early...
January 2017: Thoracic and Cardiovascular Surgeon Reports
https://www.readbyqxmd.com/read/28382840/strong-expression-and-amplification-of-igf1r-in-pleuropulmonary-blastomas
#10
Christian Vokuhl, Laura de Leon-Escapini, Ivo Leuschner
Pleuropulmonary blastoma (PPB) is a rare malignant intrathoracic tumor primarily affecting children under 5 years of age. PPBs are histologically divided into 3 subtypes: Type I PPBs are composed of multiple cysts, and type III is a solid lesion with a variable morphologic appearance. Type II has a mixed morphology consisting of cystic and solid areas. The genetics of PPB are poorly understood. We analyzed 16 cases of the Kiel Paediatric Tumor Registry with the diagnosis of PPB by comparative genomic hybridization and confirmed some genetic changes by fluorescence in situ hybridization...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28222777/identification-of-somatic-and-germ-line-dicer1-mutations-in-pleuropulmonary-blastoma-cystic-nephroma-and-rhabdomyosarcoma-tumors-within-a-dicer1-syndrome-pedigree
#11
Lorena Fernández-Martínez, José Antonio Villegas, Íñigo Santamaría, Ana S Pitiot, Marta G Alvarado, Soledad Fernández, Héctor Torres, Ángeles Paredes, Pilar Blay, Milagros Balbín
BACKGROUND: DICER1 syndrome is a pediatric cancer predisposition condition causing a variety of tumor types in children and young adults. In this report we studied a family with two relatives presenting a variety of neoplastic conditions at childhood. METHODS: Germ-line mutation screening of the complete coding region of the DICER1 gene in genomic DNA from the proband was performed. The presence of somatic DICER1 mutation and further alterations in driver genes was investigated in genomic DNA obtained from available tumor samples...
February 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28103635/the-impact-of-local-control-in-the-treatment-of-type-ii-iii-pleuropulmonary-blastoma-experience-of-the-cooperative-weichteilsarkom-studiengruppe-cws
#12
Monika Sparber-Sauer, Guido Seitz, Sylvia Kirsch, Christian Vokuhl, Ivo Leuschner, Tobias M Dantonello, Monika Scheer, Thekla von Kalle, Gustaf Ljungman, Stefan S Bielack, Thomas Klingebiel, Joerg Fuchs, Ewa Koscielniak
BACKGROUND AND OBJECTIVES: This study aims at examining the potential survival benefits of primary versus secondary surgery in the management of children diagnosed with pleuropulmonary blastoma (PPB) type II/III. PATIENTS AND METHODS: Disease characteristics, treatment, and survival of 29 children with localized PPB type II/III, treated in six prospective Cooperative Weichteilsarkom Studiengruppe (CWS) trials, were reviewed retrospectively. RESULTS: Five year event free survival (EFS) and overall survival (OS) of children treated according to CWS protocols was 72%...
February 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28097783/type-iii-pleuropulmonary-blastoma-in-a-dicer1-germline-mutation-carrier-the-management-of-residual-lung-cystic-lesions
#13
Ana M Fita, Esther Llinares-Riestra, Ernesto Doménech-Abellán, Mar Bermúdez-Cortés, Ana M Galera-Miñarro, Agueda Bas-Bernal, José L Fuster-Soler
Pleuropulmonary blastoma (PPB) is a rare malignancy of childhood. It often represents a manifestation of a hereditary tumor predisposition syndrome (DICER1 syndrome). Because of its malignant potential, surgical resection of cystic lung lesions is recommended in germline DICER1 mutation carriers. We present a case of a 3-year-old male child with type III PPB successfully managed with ifosfamide, vincristine, actinomycin-D, and doxorubicin (IVADo) chemotherapy and surgery. A heterozygous germline pR688X mutation of DICER1 gene was demonstrated...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28012864/germline-and-somatic-dicer1-mutations-in-familial-and-sporadic-liver-tumors
#14
Stefano Caruso, Julien Calderaro, Eric Letouzé, Jean-Charles Nault, Gabrielle Couchy, Anaïs Boulai, Alain Luciani, Elie-Serge Zafrani, Paulette Bioulac-Sage, Olivier Seror, Sandrine Imbeaud, Jessica Zucman-Rossi
BACKGROUND & AIMS: Growing evidence suggests that genetic predisposition significantly increases the risk of hepatocellular carcinoma (HCC), independently from the presence of other risk factors. Here, we report a novel germline DICER1 mutation associated with familial recurrent liver tumors. We then aimed to investigate the contribution of constitutional and somatic DICER1 mutations on HCC occurrence. METHODS: We investigated two individuals of a single family that developed recurrent well-differentiated hepatocellular tumors over the years...
December 22, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/28008207/what-do-we-know-about-pulmonary-blastoma-review-of-literature-and-clinical-case-report
#15
Dorota Brodowska-Kania, Ewa Kotwica, Aleksandra Paturej, Witold Sośnicki, Janusz Patera, Agnieszka Giżewska, Stanisław Niemczyk
Pulmonary blastoma (PB) is a rare form of lung tumour and is accountable for 0.25-0.5% of primary pulmonary malignancies. Initially pulmonary blastoma was divided into three subtypes: biphasic pulmonary blastoma (BPB) consisting of an epithelial and mesenchymal component, well differentiated fetal adenocarcinoma (WDFA) built of well differentiated epithelium and a mesenchymal component and malignant pleuropulmonary blastoma (PPB). Prognosis in this type of cancer is really poor. We present a current review of literature and a clinical case report...
December 2016: Nagoya Journal of Medical Science
https://www.readbyqxmd.com/read/27906793/multimorbidity-and-genetic-characteristics-of-dicer1-syndrome-based-on-systematic-review
#16
Siyu Cai, Wen Zhao, Xiaolu Nie, Ali Abbas, Libing Fu, Safaa Bihi, Guoshuang Feng, Tianyi Liu, Yaqi Lv, Xiaoli Ma, Xiaoxia Peng
It has been reported that germline DICER1 mutations correlate with a distinctive human disease syndrome. Many published studies within this field have been conducted based on rare cases. We systematically searched bibliographic databases, including PubMed, Embase, and COSMIC for articles which are related to diseases covered by DICER1 syndrome. The weighted summary of mutation frequencies among patients with pleuropulmonary blastoma (PPB), cystic nephroma (CN), and Sertoli-Leydig cell tumor (SLCT) were calculated...
November 30, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27896549/embryonal-rhabdomyosarcoma-in-a-patient-with-a-heterozygous-frameshift-variant-in-the-dicer1-gene-and-additional-manifestations-of-the-dicer1-syndrome
#17
Julia Fremerey, Stefan Balzer, Triantafyllia Brozou, Joerg Schaper, Arndt Borkhardt, Michaela Kuhlen
Germline mutations in the DICER1 gene are associated with an inherited cancer predisposition syndrome also known as the DICER1-syndrome, which is implicated in a broad range of tumors including pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumors, ciliary body medulloepithelioma (CBME), pituitary blastoma, embryonal rhabdomyosarcoma (eRMS), anaplastic renal sarcoma as well as ocular, sinonasal tumors ovarian sex-cord tumors, thyroid neoplasia and cystic nephroma. This study describes a novel, heterozygous frameshift DICER1 mutation in a patient, who is affected by different tumors of the DICER1-syndrome, including eRMS, CBME and suspected pleuropulmonary blastoma type I...
November 28, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27888828/nasal-chondromesenchymal-hamartoma-a-rare-nasal-benign-tumor
#18
Hakan Avcı, Şenol Çomoğlu, Erkan Öztürk, Bilge Bilgiç, Ökkeş Erkan Kıyak
Nasal chondromesenchymal hamartoma (NCMH) is a rare nasal benign tumor, which arises from the nasal cavity or paranasal sinuses. In this article, we present a five-year-old male patient with rhabdomyosarcoma unity in remission that emerged with nasal obstruction. Synchronous diagnosis of pediatric tumors such as pleuropulmonary blastoma in the literature is a remarkable finding. We found a mass within the left nasal cavity originating from superior portion of nasal septum, extending to the olfactory cleft and resected all tumor via endoscopic surgical approach...
September 2016: Kulak Burun Boğaz Ihtisas Dergisi: KBB, Journal of Ear, Nose, and Throat
https://www.readbyqxmd.com/read/27830405/dicer1-mutation-and-tumors-associated-with-a-familial-tumor-predisposition-syndrome-practical-considerations
#19
Eduardo J Bardón-Cancho, Ana Haro-Díaz, Francisco J Alonso-García-de la Rosa, Jorge Huerta-Aragonés, Marina García-Morín, Felipe González-Martínez, Carmen Garrido-Colino
The familial tumor predisposition syndrome known as DICER1-pleuropulmonary blastoma (PPB) or DICER1 tumor predisposition syndrome was first described in 2009, and it involves an increased risk in the occurrence of various tumors, like cystic nephroma and PPB. Here is presented a girl with a cystic nephroma and two cystic lung lesions who was diagnosed years later with the DICER1 gene mutation. This mutation was also found in one of her parents. Thus, the screening for the DICER1 gene mutation may be important in children with certain/multiple tumors and their families...
April 2017: Familial Cancer
https://www.readbyqxmd.com/read/27723920/antenatally-detected-congenital-pulmonary-airway-malformations-the-oxford-experience
#20
Hemanshoo Sudhir Thakkar, Jonathan Durell, Subhasis Chakraborty, Bianca-Lea Tingle, Arnwald Choi, Darren J Fowler, Steve J Gould, Lawrence Impey, Kokila Lakhoo
Congenital airway pulmonary malformations are increasingly being diagnosed, but their management continues to remain controversial. Our approach has been to offer surgery to mitigate the risk of infection and possible malignancy. All patients routinely undergo a CT scan of the chest postnatally and once the diagnosis is confirmed, minimal access surgery is offered. Our anesthetists provide single-lung ventilation to enhance the operative view. We conducted a retrospective review over a 10-year period, during which 91 patients were prenatally suspected to have a cystic lung lesion...
August 2017: European Journal of Pediatric Surgery
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