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Infantile malignancies

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https://www.readbyqxmd.com/read/28371408/two-cases-of-humoral-hypercalcemia-of-malignancy-complicating-infantile-fibrosarcoma
#1
Ryan Hirschfeld, Jennifer J G Welch, Douglas J Harrison, Robin Kremsdorf, Anjulika Chawla
We report two infants with infantile fibrosarcoma (IFS) complicated by severe hypercalcemia. Assessment demonstrated suppressed parathyroid hormone and 1,25-dihydroxyvitamin D levels with elevated circulating levels of parathyroid hormone related protein, indicating the diagnosis of humoral hypercalcemia of malignancy (HHM). HHM is a paraneoplastic syndrome rarely associated with pediatric malignancies. Hypercalcemia manifested clinically with neurologic symptoms and soft tissue calcium deposition and required aggressive management with intravenous fluids, diuretics, and supplemental electrolytes...
March 29, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28318056/cutaneous-and-systemic-findings-in-mosaic-neurofibromatosis-type-1
#2
Igor Vázquez-Osorio, Anna Duat-Rodríguez, Francisco Javier García-Martínez, Antonio Torrelo, Lucero Noguera-Morel, Angela Hernández-Martín
BACKGROUND/OBJECTIVES: Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF1. METHODS: We performed a retrospective study of 40 children diagnosed with MNF1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015...
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28238417/enhanced-expression-of-programmed-cell-death-1-pd-1-protein-in-benign-vascular-anomalies
#3
Clarissa N Amaya, Frank H Wians, Brad A Bryan, Alireza Torabi
Programmed cell death 1 (PD-1) and its ligands have been shown to play a significant role in evasion of malignant tumour cells from the immune system. Last year, the United States Food and Drug Administration (FDA) approved anti-PD-1 inhibitors for treatment of non-small cell lung carcinoma and recently has approved anti-PD-L1 blocker for treatment of metastatic urothelial cell carcinoma. However, the role that the immune system might have on benign tumours including vascular anomalies has received less attention...
April 2017: Pathology
https://www.readbyqxmd.com/read/28183292/case-report-rapid-and-durable-response-to-pdgfr-targeted-therapy-in-a-child-with-refractory-multiple-infantile-myofibromatosis-and-a-heterozygous-germline-mutation-of-the-pdgfrb-gene
#4
Peter Mudry, Ondrej Slaby, Jakub Neradil, Jana Soukalova, Kristyna Melicharkova, Ondrej Rohleder, Marta Jezova, Anna Seehofnerova, Elleni Michu, Renata Veselska, Jaroslav Sterba
BACKGROUND: Infantile myofibromatosis belongs to a family of soft tissue tumors. The majority of these tumors have benign behavior but resistant and malignant courses are known, namely in tumors with visceral involvement. The standard of care is surgical resection. Observations suggest that low dose chemotherapy is beneficial. The treatment of resistant or relapsed patients with multifocal disease remains challenging. Patients that harbor an actionable mutation in the kinase domain are potential subjects for targeted tyrosine kinase inhibitor therapy...
February 10, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28154351/natural-history-of-thyroid-cancer-review
#5
Toru Takano
Thyroid cancers have long been considered to arise in middle age and, after their repeated proliferation, resulting in further damage to the genome, they progress to more aggressive and lethal cancers. However, in 2014, some studies were reported that might lead to a marked change in our understanding of the natural history of thyroid cancer. A high prevalence of papillary carcinoma in the young suggested that the first initiation of thyroid cancer is likely to occur in the infantile period. Such a conclusion was also supported by a very slow growth rate of papillary microcarcinomas (PMCs) in an observation trial...
March 31, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28095295/hematopoietic-stem-cell-transplantation-corrects-osteopetrosis-in-a-child-carrying-a-novel-homozygous-mutation-in-the-fermt3-gene
#6
Eleonora Palagano, Mary A Slatter, Paolo Uva, Ciro Menale, Anna Villa, Mario Abinun, Cristina Sobacchi
Osteopetrosis (OPT) is a rare skeletal disorder with phenotypic and genotypic heterogeneity: a variety of clinical features besides the bony defect may be present, and at least ten different genes are known to be involved in the disease pathogenesis. In the framework of this heterogeneity, we report the clinical description of a neonate, first child of consanguineous parents, who had osteoclast-rich osteopetrosis and bone marrow failure in early life, but no other usual classical features of infantile malignant OPT, such as visual or hearing impairments...
January 14, 2017: Bone
https://www.readbyqxmd.com/read/28064266/infantile-intraosseous-maxillary-hemangioma
#7
Divya Gupta, Ishwar Singh, Kavita Goyal, Parul Sobti
BACKGROUND: Primary osseous hemangiomas of the facial skeleton mimic malignancy. Their location in maxillary sinus, especially in infants is extremely rare. CASE CHARACTERISTICS: 1- month-old full term boy with maxillary swelling. OBSERVATIONS: Biopsy from oral route revealed hemangioma showing vascular channels lined by endothelial cells. Patient improved on oral steroids. MESSAGE: Hemangiomas should be considered as one of the differential diagnosis of unilateral maxillary swelling in infants...
December 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27889818/somatosensory-reflex-seizures-in-a-child-with-epilepsy-related-to-novel-scn1a-mutation
#8
Pinar Arican, Nihal Olgac Dundar, Dilek Cavusoglu, Taha Resid Ozdemır, Pinar Gencpinar
INTRODUCTION: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies. CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face...
April 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27775311/-infantile-hypertrofic-pyloric-stenosis-or-gastric-adenomyoma-differential-diagnosis-of-gastric-outlet-obstruction-in-children
#9
M Oviedo Gutiérrez, S Amat Valero, A Gómez Farpón, C Montalvo Ávalos, L Fernández García, D C Lara Cárdenas, S Barnes Marañón, C Granell Suárez, N Vega Mata, A J López López, M González Guerrero, V Álvarez Muñoz
PURPOSE: Gastrointestinal adenomyoma is a rare benign tumor most frequently located in the stomach. The differential diagnosis is wide because of its large clinical spectrum and unspecific radiological findings. Surgical excision is both diagnostic and therapeutic. CASE REPORT: A 49-days old girl presented with nonbilious vomiting of 48 hours of evolution. Infantile hypertrofic pyloric stenosis was suspected. Ultrasound showed a nonobstructive nodular lesion in the anterior pyloric wall...
July 20, 2015: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27668845/desmoplastic-infantile-astrocytoma-and-ganglioglioma-case-report-and-review-of-the-literature
#10
REVIEW
Alaa Samkari, Faris Alzahrani, Abeer Almehdar, Hussein Algahtani
Desmoplastic infantile astrocytoma (DIA) is a rare, supratentorial, dural-based, large cystic tumor that usually arises in the first 24 months of life. However, non-infantile cases were also reported in the literature. Desmoplastic infantile astrocytoma and desmoplastic infantile ganglioglioma (DIG) are both classified as grade I astrocytoma by the World Health Organization (WHO). Grossly, DIA/DIG are large tumors composed of solid and cystic portions. Although large in nature, they are slow-growing tumors, with good prognosis after complete surgical removal, and rarely require a chemotherapy or radiotherapy...
January 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/27659826/supratentorial-tumors-typical-of-the-infantile-age-desmoplastic-infantile-ganglioglioma-dig-and-astrocytoma-dia-a-review
#11
REVIEW
F Bianchi, G Tamburrini, L Massimi, M Caldarelli
OBJECT: Desmoplastic infantile gangliogliomas (DIGs) and desmoplastic infantile astrocytomas (DIAs) are tumors typical of the infantile age. A large size, with a mixed solid and cystic component, clinical presentation with progressing signs of increased intracranial pressure, a prominent benign desmoplastic structure at histological examination, and a favorable clinical course in the majority of cases are the prominent features of these tumors. The objective of the present paper was to review the pertinent literature on the topic together with our personal experience, with the aim of an updated review of the subject...
October 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27610342/history-of-the-infantile-hepatic-hemangioma-from-imaging-to-generating-a-differential-diagnosis
#12
REVIEW
Maria Gnarra, Gerald Behr, Alison Kitajewski, June K Wu, Sudha A Anupindi, Carrie J Shawber, Nick Zavras, Dimitrios Schizas, Chris Salakos, Konstantinos P Economopoulos
We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis...
August 8, 2016: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/27607326/vascular-anomalies-differential-diagnosis-and-mimickers
#13
REVIEW
Maria C Garzon, Nicole Weitz, Julie Powell
Vascular anomalies are very common in children and encompass a wide spectrum of diseases. Many vascular anomalies can be mistaken for infantile hemangioma (IH). In addition, there is a variety of rare disorders including benign and malignant tumors that may mimic IH and other types of vascular anomalies. Understanding the clinical features, natural history, and typical clinical course of different types of vascular anomalies is essential in order to make the correct diagnosis and guide management. Radiologic imaging plays an important role in establishing the diagnosis; and when the diagnosis remains in doubt, a biopsy performed by a surgical specialist with expertise may prove to be lifesaving...
September 2016: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/27541021/regulation-and-function-of-lentiviral-vector-mediated-tcirg1-expression-in-osteoclasts-from-patients-with-infantile-malignant-osteopetrosis-implications-for-gene-therapy
#14
Christian Schneider Thudium, Ilana Moscatelli, Henrik Löfvall, Zsuzsanna Kertész, Carmen Montano, Carmen Flores Bjurström, Morten Asser Karsdal, Ansgar Schulz, Johan Richter, Kim Henriksen
Infantile malignant osteopetrosis (IMO) is a rare, recessive disorder characterized by increased bone mass caused by dysfunctional osteoclasts. The disease is most often caused by mutations in the TCIRG1 gene encoding a subunit of the V-ATPase involved in the osteoclasts capacity to resorb bone. We previously showed that osteoclast function can be restored by lentiviral vector-mediated expression of TCIRG1, but the exact threshold for restoration of resorption as well as the cellular response to vector-mediated TCIRG1 expression is unknown...
August 19, 2016: Calcified Tissue International
https://www.readbyqxmd.com/read/27450977/successful-use-of-dose-dense-neoadjuvant-chemotherapy-and-sodium-valproate-with-minimal-toxicity-in-an-infant-with-medulloblastoma-in-extremely-poor-general-condition
#15
Ajay Gupta, Amit Kumar, Andaleeb Abrari, Rana Patir, Sandeep Vaishya
BACKGROUND: Medulloblastoma is the most common malignant brain tumor in children. Infants are in the high-risk category. Complete surgical resection is the single most important determinant of prognosis and survival in nonmetastatic disease. Infants with large primaries after incomplete resection/biopsy and poor general condition have bad prognosis. They are considered poor candidates for intensive chemotherapy involving high dose methotrexate/autologous stem cell transplantation as they are often unable to tolerate these aggressive regimens...
September 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27399243/pediatric-fibroblastic-and-myofibroblastic-tumors-a-pictorial-review
#16
REVIEW
Kiran M Sargar, Elizabeth F Sheybani, Archana Shenoy, John Aranake-Chrisinger, Geetika Khanna
Pediatric fibroblastic and myofibroblastic tumors are a relatively common group of soft-tissue proliferations that are associated with a wide spectrum of clinical behavior. These tumors have been divided into the following categories on the basis of their biologic behavior: benign (eg, myositis ossificans, myofibroma, fibromatosis colli), intermediate-locally aggressive (eg, lipofibromatosis, desmoid fibroma), intermediate-rarely metastasizing (eg, inflammatory myofibroblastic tumors, infantile fibrosarcoma, low-grade myofibroblastic sarcoma), and malignant (eg, fibromyxoid sarcoma, adult fibrosarcoma)...
July 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27373934/intracranial-infantile-myofibromatosis-mimicking-malignant-brain-tumor-a-case-report-and-literature-review
#17
Mizuho Inoue, Shota Tanaka, Hirofumi Nakatomi, Shunsaku Takayanagi, Miwako Takahashi, Mariko Tanaka, Toshimitsu Momose, Akitake Mukasa, Nobuhito Saito
BACKGROUND: Myofibroma is a fibrous tumor of infancy that sometimes affects a single patient in a multiple fashion (infantile myofibromatosis). Its intracranial involvement is extremely rare, and its clinical picture has been poorly characterized. Here we report an interesting case of myofibromatosis with an intracranial lesion that behaved like an aggressive tumor and yet demonstrated very benign pathology. CASE DESCRIPTION: A 36-year-old man had never been diagnosed with infantile myofibromatosis despite his lifelong history of multiple tumors of various diagnoses...
September 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27343960/diseases-of-the-tongue
#18
Aaron R Mangold, Rochelle R Torgerson, Roy S Rogers
The tongue is a complex organ involved in speech and expression as well as in gustation, mastication, and deglutition. The oral cavity, along with the tongue, are sites of neoplasms, reactive processes, and infections, and may be a harbinger of systemic diseases. This review includes both common and rare diseases that occur on the tongue, including: vascular and lymphatic lesions (infantile hemangiomas and oral varices), reactive and inflammatory processes (hairy tongue, pigmented fungiform papillae of the tongue, benign migratory glossitis, and fissured tongue), infections (oral hairy leukoplakia, herpes simplex and varicella-zoster virus infections, human papillomavirus, and candidiasis), premalignant lesions (leukoplakia and erythroplakia), malignant lesions (squamous cell carcinoma, Kaposi sarcoma, and lymphoproliferative diseases), and signs of systemic disease (nutritional deficiency and systemic amyloidosis)...
July 2016: Clinics in Dermatology
https://www.readbyqxmd.com/read/27311781/beyond-infections-tumors-and-malformations-of-the-diaper-area
#19
REVIEW
Alfons Krol
BACKGROUND: While most common diaper-related conditions are easily resolved, the diaper region may be the site of a variety of tumors (either benign or malignant) and other abnormalities that may require completely unique treatment approaches. OBJECTIVES: This review sought to catalogue the various conditions and complications that may arise in the diaper area during the first few years of life. METHODS: To identify studies included in this review, computerized searches were undertaken in the PubMed and Medline databases using the term tumors of the diaper region with the following terms: tumors, malformations, diaper region, and infant...
July 2016: International Journal of Dermatology
https://www.readbyqxmd.com/read/27300205/genotype-phenotype-analysis-of-pediatric-patients-with-wt1-glomerulopathy
#20
Yo Han Ahn, Eu Jin Park, Hee Gyung Kang, Seong Heon Kim, Hee Yeon Cho, Jae Il Shin, Joo Hoon Lee, Young Seo Park, Kyo Sun Kim, Il-Soo Ha, Hae Il Cheong
BACKGROUND: WT1 is one of the genes commonly reported as mutated in children with steroid-resistant nephrotic syndrome (SRNS). We analyzed genotype-phenotype correlations in pediatric SRNS patients with WT1 mutations. METHODS: From 2001 to 2015, WT1 mutations were detected in 21 out of 354 children with SRNS by genetic screening (5.9 %). The patients were grouped into missense (n = 11) and KTS splicing (n = 10) mutation groups. RESULTS: Nine (82 %) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80 %) with KTS splicing mutations presented with childhood-onset SRNS...
January 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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