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pleuropulmonary blastoma

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...
October 10, 2016: European Journal of Pediatric Surgery
Jennifer Costa, Jerzy Klijanienko, Laurence Desjardins, Nathalie Cassoux, Marie Christine Machet, Helene Pacquement
Pleuropulmonary blastoma (PPB) is a rare primitive intrathoracic malignant neoplasm that occurs almost exclusively in children and adolescents. PPB is classified into three types according to the presence of cystic and solid areas. We report a case of PPB with an intraocular metastasis diagnosed by fine needle aspiration (FNA): 3-year-old female was treated for type II PPB by neoadjuvant chemotherapy and surgery. Four years later, she presented with an intraocular lesion. To differentiate between metastasis or other malignancy, a transcleral FNA was performed and showed two cellular populations represented by roundish malignant cells and spindle-shaped cells...
October 8, 2016: Diagnostic Cytopathology
Misa Yoshida, Satoshi Hamanoue, Masafumi Seki, Mio Tanaka, Kenichi Yoshida, Hiroaki Goto, Seishi Ogawa, Junko Takita, Yukichi Tanaka
Anaplastic sarcoma of the kidney (ASK) is a tumor found in the pediatric age group and shows many histopathological similarities to pleuropulmonary blastoma (PPB). We present a 12-year-old girl diagnosed with ASK and, three years later, with thyroid follicular carcinoma (TFC) with DICER1 abnormalities. Germline insertion/deletion (p.G1809_S1814delinsA) and independent somatic mutations (p.E1705K in ASK, p.E1813D in TFC) were identified. All of these abnormalities are in the catalytic domain of RNase IIIb. Single-nucleotide polymorphism genotyping microarray revealed independent copy number alterations (trisomy 8, monosomy 10, loss of 17p and partial gain of 17q in ASK; trisomy 5 and partial loss of Xq in TFC)...
September 30, 2016: Human Pathology
Valerie A Fitzhugh
In recent years, hereditary cancer syndromes have developed greater interest in the scientific community. Two such syndromes, rhabdoid tumor syndrome and pleuropulmonary blastoma (DICER1) syndrome, have appeared increasingly in the literature. This review will discuss these two syndromes in terms of clinical parameters, associated tumors, and genetic associations.
June 2016: Journal of Pediatric Genetics
Ruben Lamas-Pinheiro, Mafalda David, Tiago Henriques-Coelho
No abstract text is available yet for this article.
August 26, 2016: Neonatology
Louis P Dehner, Yoav H Messinger, Gretchen M Williams, Douglas R Stewart, Laura A Harney, Kris Ann Schultz, D Ashley Hill
No abstract text is available yet for this article.
August 26, 2016: Neonatology
David J Liu, Renee Perrier, Xing-Chang Wei, Jeffrey T Joseph, Douglas Strother
Pleuropulmonary blastoma (PPB) is a rare childhood tumor, often associated with germline DICER1 mutations and a risk for development of other benign and malignant tumors, a constellation termed DICER1 syndrome. A 1-year-old male was diagnosed with Type I PPB and screened regularly thereafter for detection of intrathoracic and intraabdominal disease. Ten months after diagnosis of PPB, he presented with headaches and vomiting. He was diagnosed with atypical choroid plexus papilloma, a lesion not previously reported with PPB...
July 21, 2016: Pediatric Blood & Cancer
Nicholas E Khan, Andrew J Bauer, Leslie Doros, Kris Ann P Schultz, Rosamma M Decastro, Laura A Harney, Ron G Kase, Ann G Carr, Anne K Harris, Gretchen M Williams, Louis P Dehner, Yoav H Messinger, Douglas R Stewart
PURPOSE: Germ-line mutations in DICER1 increase the risk of various tumors, including pleuropulmonary blastoma. Macrocephaly and symmetric overgrowth have been reported in some, but not all, patients with mosaic DICER1 RNase IIIb mutations. The prevalence of these features in individuals with constitutional germ-line DICER1 mutations is unknown. METHODS: We analyzed prospectively collected auxology data from 67 DICER1 mutation carriers and 43 family controls. We assessed differences between groups using an exact test for proportions and generalized estimating equations for continuous dependent variables...
July 21, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Dmitry Bobylev, Gregor Warnecke, Nils Dennhardt, Alexander Horke
No abstract text is available yet for this article.
June 23, 2016: European Journal of Cardio-thoracic Surgery
Baheyeldin Salem, Sean Hofherr, Joyce Turner, Leslie Doros, Patroula Smpokou
Childhood rhabdomyosarcoma (RMS) accounts for approximately 3.5% of cancer cases among children 0 to 14 years of age. Genetic conditions associated with high risk of childhood RMS include Li-Fraumeni syndrome, pleuropulmonary blastoma, Beckwith-Wiedemann syndrome, and some RASopathies, such as neurofibromatosis type 1, Costello syndrome (CS), and Noonan syndrome (NS). Here, we report the rare case of a 4-year-old girl with clinical features of NS who developed an embryonal RMS of the chest and needed emergent treatment...
November 2016: Journal of Pediatric Hematology/oncology
Emeline Durieux, Françoise Descotes, Claire Mauduit, Myriam Decaussin, Serge Guyetant, Mojgan Devouassoux-Shisheboran
The DICER1 gene encodes an endoribonuclease involved in the production of mature microRNAs which regulates gene expression through several mechanisms. Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome. Pleuropulmonary blastoma is the most frequent lesion seen in this syndrome. Thyroid abnormalities are also a common finding, essentially concerning multinodular goiter. However, differentiated thyroid carcinoma is infrequently seen in such pedigrees. In addition to germline DICER1 mutations, specific somatic mutations have been identified in the DICER1 RNase IIIb catalytic domain in several tumor types, including ovarian Sertoli-Leydig cell tumors...
May 2016: Virchows Archiv: An International Journal of Pathology
Carlos Giuseppucci, Aixa Reusmann, Verónica Giubergia, Carolina Barrias, Anahi Krüger, Mónica Siminovich, Hugo Botto, Martin Cadario, Mariano Boglione, Julieta Strambach, Marcelo Barrenechea
PURPOSE: Primary lung tumors are rare during childhood and encompass a wide variety of histological types. Each has a different biology and a different therapeutic approach. The aim of this article is to review the experience of a pediatric referral center with this kind of tumors during the last 24 years. METHODS: A retrospective chart review was performed for patients with diagnosis of primary lung tumor between the years 1990-2014. The variables analyzed were age, sex, course of the disease, symptoms, localization, surgery, histology and outcome...
May 2016: Pediatric Surgery International
Mona Kay Wu, Catherine Goudie, Harriet Druker, Paul Thorner, Jeffrey Traubici, Ronald Grant, Steffen Albrecht, Evan Weber, Adrian Charles, Jack R Priest, Marc Robert Fabian, William D Foulkes
Anaplastic sarcoma of kidney (ASK) is a rare neoplasm recently associated with DICER1 mutations. We report a child with germline DICER1 mutation who developed ASK in preexisting septated renal cysts, which were likely cystic nephroma. From age 2.5 to 6 years, sonographic imaging illustrated changes in the size and number of renal cysts, followed at age 8.8 years by a mass, pathologically an ASK. Lung cysts resected in infancy were diagnosed retrospectively as pleuropulmonary blastoma. Both tumors had acquired somatic DICER1 mutations...
July 2016: Pediatric Blood & Cancer
Juan J Bosch, Martín Medín, Patricia Garrido, Jorge Martínez, Alejandro Teper
Pleuropulmonary blastoma is a rare lung tumor of childhood that can occur with cystic or solid lesions, as a radiological finding with or without respiratory symptoms. We report the case of a 2 year old toddler in his first pulmonary obstructive episode with suspected toracic malformation of the left upper lobe in his chest x-ray and tomography. Surgery was performed showing cystic malformation of the left upper lobe. We received the pathology report with diagnosis of type I pleuropulmonary blastoma. He began follow-up with Oncology initiating treatment with cyclophosphamide and vincristine, well tolerated...
February 2016: Archivos Argentinos de Pediatría
Olivier Boucherat, Lucie Jeannotte, Alice Hadchouel, Christophe Delacourt, Alexandra Benachi
It is well established that a number of birth defects are associated with improper formation of the respiratory tract. Important progress has been made in the identification of components of the regulatory networks controlling lung morphogenesis. They comprise a variety of soluble factors, receptors, transcription factors, and miRNAs. However, the underlying molecular mechanisms remain unsolved and fundamental questions, such as those related to lung branching are still unanswered. Congenital cystic lung diseases consist of a heterogeneous group of rare lung diseases mainly detected prenatally and characterized by airway dilatation...
June 2016: Paediatric Respiratory Reviews
David Malkin
In a typical morning in the Cancer Genetics Clinic at The Hospital for Sick Children in Toronto, the following array of patients and families might be seen: a family of three children, all harbouring a mutation of the succinyl dehydrogenase C gene inherited from their father who had had extensive surgery several years ago for a secreting paraganglioma; three families with Li-Fraumeni syndrome, each with at least one child harbouring a TP53 gene mutation conferring a lifetime risk of cancer approaching 100% and currently undergoing surveillance for early tumour detection; two children with Li-Fraumeni syndrome undergoing treatment for cancer - one having had three cancer diagnoses before 19 months of age and the other just completing therapy for metastatic adrenocortical carcinoma at age 3; two children with von Hippel-Lindau disease being monitored for persistent pancreatic neuroendocrine tumors and cerebellar hemangioblastomas, respectively; and one child with Beckwith-Wiedeman syndrome and Wilms tumor and another child completing therapy for a pleuropulmonary blastoma (PPB)...
February 1, 2016: Clinical and Investigative Medicine. Médecine Clinique et Experimentale
Louis P Dehner, Yoav H Messinger, Kris Ann P Schultz, Gretchen M Williams, Kathryn Wikenheiser-Brokamp, D Ashley Hill
Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children. Like other solid dysontogenic neoplasms, this tumor typically presents before 7 years of age. The earliest manifestation is the presence of a lung cyst(s), which is usually recognized in the first year of life and is difficult to differentiate on the basis of imaging studies from non-neoplastic cysts of early childhood. From a multilocular cyst, PPB has the potential to progress to a high-grade multipatterned primitive sarcoma...
November 2015: Pediatric and Developmental Pathology
Jonathan Durell, Hemanshoo Thakkar, Steve Gould, Darren Fowler, Kokila Lakhoo
AIM: The management of asymptomatic congenital cystic lung malformations is controversial. Arguments for excision of asymptomatic lesions are the potential for infection and malignancy. Following antenatal detection, our institute performs a CT at 1month, clinic follow-up by 3months to discuss the controversial management, and offers surgery by 6months of age. We investigated the histopathology of asymptomatic lesions to determine whether there was evidence of subclinical infection or malignancy...
February 2016: Journal of Pediatric Surgery
Adina Feinberg, Nigel J Hall, Gretchen M Williams, Kris Ann P Schultz, Doug Miniati, D Ashley Hill, Louis P Dehner, Yoav H Messinger, Jacob C Langer
BACKGROUND: The management of congenital cystic lung lesions is controversial. Arguments for routine resection during infancy include the possibility of the lesion being Type I pleuropulmonary blastoma (PPB) rather than a cystic congenital pulmonary airway malformation (CPAM). We aimed to identify clinical and radiological features that might distinguish between CPAM and PPB and to develop a diagnostic algorithm based on these features. METHODS: All recorded cases of Type I PPB were retrieved from the International PPB Registry and compared with an institutional cohort of children undergoing resection of CPAM (2002-2013) that was noted at some stage to be at least partially cystic...
January 2016: Journal of Pediatric Surgery
Meilan M Rutter, Pranati Jha, Kris Ann P Schultz, Amy Sheil, Anne K Harris, Andrew J Bauer, Amanda L Field, James Geller, D Ashley Hill
CONTEXT: DICER1 germline mutation carriers have an increased predisposition to cancer, such as pleuropulmonary blastoma (PPB) and Sertoli-Leydig cell tumor (SLCT), and a high prevalence of multinodular goiter (MNG). Although differentiated thyroid carcinoma (DTC) has been reported in some DICER1 mutation carriers with PPB treated with chemotherapy, the association of DTC with DICER1 mutations is not well established. CASE DESCRIPTION: We report a family with DICER1 mutation and familial DTC without a history of chemotherapy...
January 2016: Journal of Clinical Endocrinology and Metabolism
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