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Infantile fibrosarcoma

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https://www.readbyqxmd.com/read/29683818/pan-trk-immunohistochemistry-identifies-ntrk-rearrangements-in-pediatric-mesenchymal-tumors
#1
Erin R Rudzinski, Christina M Lockwood, Bradley A Stohr, Sara O Vargas, Rachel Sheridan, Jennifer O Black, Veena Rajaram, Theodore W Laetsch, Jessica L Davis
Activating neurotrophic receptor kinase (NTRK) fusions define certain pediatric mesenchymal tumors, including infantile fibrosarcoma and cellular mesoblastic nephroma. Traditionally, molecular confirmation of these fusions has included either fluorescent in situ hybridization for ETV6 rearrangements or reverse-transcriptase polymerase chain reaction for the classic ETV6-NTRK3 fusion. However, these methods overlook variant NTRK rearrangements, which are increasingly appreciated as recurrent events in a subset of pediatric mesenchymal tumors...
April 20, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29630153/successful-management-of-congenital-infantile-fibrosarcoma-presenting-as-large-non-healing-buttock-ulceration
#2
Madeleine G Sowash, Karen Itumeleng Mosojane, Alan R Anderson, Carrie L Kovari, Victoria L Williams
A two-year-old boy presented with a large, non-healing ulceration on his left buttock, which was originally noted as a brown patch present at birth. Punch skin biopsy was performed and histopathology revealed an atypical, pleomorphic, spindled proliferation in whorled fascicles replacing the dermis and trapping fat in the subcutis, consistent with a diagnosis of congenital/infantile fibrosarcoma. No evidence of metastatic spread was seen on imaging. The tumor was initially deemed unresectable owing to extent of local invasion...
February 15, 2018: Dermatology Online Journal
https://www.readbyqxmd.com/read/29615178/unusual-presentation-of-fibrosarcoma-in-a-child
#3
Afshan Fayyaz, Chaudhry Aqeel Safdar
Malignant soft tissue tumours are rare in infants. Specific radiologic features help differentiate benign from malignant musculoskeletal entities. We report a case of malignant soft tissue tumour with initial radiologic evaluation suggesting a benign entity, thus delaying diagnosis. The case was treated as a case of cystic hygroma, suggested by ultrasound and MRI with good initial response to bleomycin injection. Later, symptoms recurred with poor response to repeat therapy which led to review the diagnosis...
April 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29606586/larotrectinib-for-paediatric-solid-tumours-harbouring-ntrk-gene-fusions-phase-1-results-from-a-multicentre-open-label-phase-1-2-study
#4
Theodore W Laetsch, Steven G DuBois, Leo Mascarenhas, Brian Turpin, Noah Federman, Catherine M Albert, Ramamoorthy Nagasubramanian, Jessica L Davis, Erin Rudzinski, Angela M Feraco, Brian B Tuch, Kevin T Ebata, Mark Reynolds, Steven Smith, Scott Cruickshank, Michael C Cox, Alberto S Pappo, Douglas S Hawkins
BACKGROUND: Gene fusions involving NTRK1, NTRK2, or NTRK3 (TRK fusions) are found in a broad range of paediatric and adult malignancies. Larotrectinib, a highly selective small-molecule inhibitor of the TRK kinases, had shown activity in preclinical models and in adults with tumours harbouring TRK fusions. This study aimed to assess the safety of larotrectinib in paediatric patients. METHODS: This multicentre, open-label, phase 1/2 study was done at eight sites in the USA and enrolled infants, children, and adolescents aged 1 month to 21 years with locally advanced or metastatic solid tumours or CNS tumours that had relapsed, progressed, or were non-responsive to available therapies regardless of TRK fusion status; had a Karnofsky (≥16 years of age) or Lansky (<16 years of age) performance status score of 50 or more, adequate organ function, and full recovery from the acute toxic effects of all previous anticancer therapy...
March 29, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29430000/recurrent-bcor-internal-tandem-duplication-and-bcor-or-bcl6-expression-distinguish-primitive-myxoid-mesenchymal-tumor-of-infancy-from-congenital-infantile-fibrosarcoma
#5
Teresa Santiago, Michael R Clay, Sariah J Allen, Brent A Orr
This corrects the article DOI: 10.1038/modpathol.2017.12.
February 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29391602/novel-identification-of-stat1-as-a-crucial-mediator-of-etv6-ntrk3-induced-tumorigenesis
#6
Jinah Park, Junil Kim, Bora Park, Kyung-Min Yang, Eun Jin Sun, Cristina E Tognon, Poul H Sorensen, Seong-Jin Kim
Chromosomal rearrangements that facilitate tumor formation and progression through activation of oncogenic tyrosine kinases are frequently observed in cancer. The ETV6-NTRK3 (EN) fusion has been implicated in various cancers, including infantile fibrosarcoma, secretory breast carcinoma, and acute myeloblastic leukemia, and has exhibited in vivo and in vitro transforming ability. In the present study, we analyzed transcriptome alterations using DNA microarray and RNA-Seq in EN-transduced NIH3T3 fibroblasts to identify the mechanisms that are involved in EN-mediated tumorigenesis...
February 2, 2018: Oncogene
https://www.readbyqxmd.com/read/29324457/successful-first-gait-of-a-child-with-hip-disarticulation-prosthesis-a-case-report
#7
Hitomi Hara, Teruya Kawamoto, Naomasa Fukase, Etsuko Katayama, Toshiyuki Takemori, Shuichi Fujiwara, Yoshitada Sakai, Kotaro Nishida, Ryosuke Kuroda, Toshihiro Akisue
An infant boy underwent hip disarticulation for infantile fibrosarcoma immediately after birth. His rehabilitation began when he was 4 months old and involved training with his left (residual) leg. He could stand with support at 12 months. His initial prosthesis fitting was performed at the age of 13 months. He could stand and walk with support at 15 months of age and could walk with no additional support and go up and down stairs at 2 years. A single-axis prosthetic knee joint was introduced at the age of 2 years 3 months...
January 11, 2018: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/29200168/spontaneous-regression-in-a-patient-with-infantile-fibrosarcoma
#8
Sameer Farouk Sait, Enrico Danzer, Daniel Ramirez, Michael P LaQuaglia, Meyers Paul
Infantile fibrosarcoma usually presents as a rapidly growing mass on the extremities or trunk. We describe spontaneous regression in a 5-month-old female infant with biopsy proven, molecularly confirmed, right leg infantile fibrosarcoma currently at 26 months of age with no signs of local recurrence. Previously reported cases of spontaneous regression are reviewed, suggesting a benign clinical course in some cases. Although evidence for spontaneous regression is anecdotal in this rare tumor type, physicians should weigh the risks and benefits of surgery and chemotherapy against watchful waiting...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29099503/recurrent-eml4-ntrk3-fusions-in-infantile-fibrosarcoma-and-congenital-mesoblastic-nephroma-suggest-a-revised-testing-strategy
#9
Alanna J Church, Monica L Calicchio, Valentina Nardi, Alena Skalova, Andre Pinto, Deborah A Dillon, Carmen R Gomez-Fernandez, Namitha Manoj, Josh D Haimes, Joshua A Stahl, Filemon S Dela Cruz, Sarah Tannenbaum-Dvir, Julia L Glade-Bender, Andrew L Kung, Steven G DuBois, Harry P Kozakewich, Katherine A Janeway, Antonio R Perez-Atayde, Marian H Harris
Infantile fibrosarcoma and congenital mesoblastic nephroma are tumors of infancy traditionally associated with the ETV6-NTRK3 gene fusion. However, a number of case reports have identified variant fusions in these tumors. In order to assess the frequency of variant NTRK3 fusions, and in particular whether the recently identified EML4-NTRK3 fusion is recurrent, 63 archival cases of infantile fibrosarcoma, congenital mesoblastic nephroma, mammary analog secretory carcinoma and secretory breast carcinoma (tumor types that are known to carry recurrent ETV6-NTRK3 fusions) were tested with NTRK3 break-apart FISH, EML4-NTRK3 dual fusion FISH, and targeted RNA sequencing...
November 3, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29099410/congenital-infantile-fibrosarcoma-in-the-premature-infant
#10
REVIEW
Taryn M Edwards, Melissa S Duran, Tamara M Meeker
BACKGROUND: Congenital infantile fibrosarcoma (CIF) is rare and represents less than 1% of all childhood cancers. It is a tumor that originates in the connective fibrous tissue found at the ends of long bones and then spreads to other surrounding soft tissues. These lesions are typically large, grow rapidly, and can often be mistaken for teratomas. Diagnosis is confirmed by pathology, where cellular proliferation of fibroblasts occurs. Imaging is an important part of the diagnosis, which includes the use of magnetic resonance imaging and/or computed tomography scan...
December 2017: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/29090505/a-case-of-congenital-infantile-fibrosarcoma-of-the-bowel-presenting-as-a-neonatal-intussusception
#11
Juma Obayashi, Hirotaka Koizumi, Masahiro Hoshikawa, Munechika Wakisaka, Atsuko Fujikawa, Hiroaki Kitagawa, Masayuki Takagi
Neonatal intussusception of the intestinal tract is rare. However, most neonatal intussusceptions have an organic lead point. For the lead point to be a neoplasm is extremely rare. We report a case that presented with neonatal intussusception with a congenital infantile fibrosarcoma as the lead point. The detection of ETV6-NTRK3 gene fusion was useful, although the definitive diagnosis was achieved by a comprehensive evaluation including this gene analysis, standard histology and immunohistochemistry. Neonatal intussusception should be suspected to be caused by a neoplasm...
December 2017: Pathology International
https://www.readbyqxmd.com/read/29043695/-vascular-anomalies-in-the-neonatal-period
#12
M Bejarano, F Vicario, A Soria, F J Parri, A Albert
OBJECTIVE: Vascular anomalies in the neonatal period are a diagnostic challenge for the lack of evident signs, symptoms and follow-up, and the convenience of restricting aggressive diagnostic tests. The aim of this work is to review the characteristics of neonatal cases presented to our Vascular Anomalies Unit in the last 5 years. MATERIALS AND METHODS: All cases of suspected vascular anomaly presented to our unit before 1 month of age between 2010 and 2015 were reviewed, diagnostic tests and treatments carried out with chronology were analyzed...
July 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28921877/analysis-of-infantile-fibrosarcoma-reveals-extensive-t-cell-responses-within-tumors-implications-for-immunotherapy
#13
Hua Zhu, Song Gu, Minzhi Yin, Min Shi, Chao Xin, Jianmin Zhu, Jing Wang, Siqi Huang, Chenjie Xie, Jing Ma, Ci Pan, Jingyan Tang, Min Xu, Xue-Feng Bai
BACKGROUND: Infantile fibrosarcoma (IFS) is a rare pediatric malignancy with relatively good prognosis, but the risk of progression or recurrence after therapy exists. To understand the immune microenvironment of IFS and determine if immunotherapy is a potential treatment, we analyzed T-cell responses in IFS tumors. PROCEDURE: IFS tumors were analyzed by immunohistochemistry and multicolor flow cytometry to characterize immune cell infiltration and function. Tumor infiltrating lymphocytes (TILs) were expanded in vitro and evaluated for recognition of autologous tumor cells...
February 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28877062/recurrent-braf-gene-fusions-in-a-subset-of-pediatric-spindle-cell-sarcomas-expanding-the-genetic-spectrum-of-tumors-with-overlapping-features-with-infantile-fibrosarcoma
#14
Yu-Chien Kao, Christopher D M Fletcher, Rita Alaggio, Leonard Wexler, Lei Zhang, Yun-Shao Sung, Dicle Orhan, Wei-Chin Chang, David Swanson, Brendan C Dickson, Cristina R Antonescu
Infantile fibrosarcomas (IFS) represent a distinct group of soft tissue tumors occurring in patients under 2 years of age and most commonly involving the extremities. Most IFS show recurrent ETV6-NTRK3 gene fusions, sensitivity to chemotherapy, and an overall favorable clinical outcome. However, outside these well-defined pathologic features, no studies have investigated IFS lacking ETV6-NTRK3 fusions, or tumors with the morphology resembling IFS in older children. This study was triggered by the identification of a novel SEPT7-BRAF fusion in an unclassified retroperitoneal spindle cell sarcoma in a 16-year-old female by targeted RNA sequencing...
September 4, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28856451/recurrent-and-metastatic-congenital-mesoblastic-nephroma-where-does-the-evidence-stand
#15
Susan Jehangir, Jujju J Kurian, Dharshini Selvarajah, Reju J Thomas, Andrew J A Holland
PURPOSE: Fifty years ago, Bolande described Congenital Mesoblastic Nephroma (CMN) as a benign lesion. Unexpected aggressive clinical behaviors prompted a sub-classification based on histology. Recent molecular genetic evidence has identified the aggressive cellular variant to be the renal manifestation of congenital infantile fibrosarcoma. We submit a reappraisal and analysis of the available literature on recurrent and metastatic CMN. METHODS: An electronic search of PubMed, MEDLINE, EMBASE, and Scopus yielded 38 children with local recurrence and/or metastases...
November 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28690909/congenital-infantile-fibrosarcoma-causing-intestinal-perforation-in-a-newborn
#16
Margarita Kaiser, Bernadette Liegl-Atzwanger, Eszter Nagy, Daniela Sperl, Georg Singer, Holger Till
Congenital infantile fibrosarcoma (CIF) is a rare malignant mesenchymal tumor and only 14 cases have been reported with gastrointestinal manifestation. We report about a female newborn delivered per emergency cesarean section at 34 weeks of gestation. Postnatally, she rapidly developed an acute abdomen and sonographic evidence of intestinal perforation requiring laparotomy on the first day of life. A perforated 2 × 3 cm sized spherical tumorous structure of the jejunum was identified. Due to unknown histopathology at this point and unclear resectional margins, she received a temporary ileostomy, which was closed two months later...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28683589/infantile-ntrk-associated-mesenchymal-tumors
#17
Jessica L Davis, Christina M Lockwood, Catherine M Albert, Karen Tsuchiya, Douglas S Hawkins, Erin R Rudzinski
Pediatric fibroblastic/myofibroblastic lesions are a relatively common group of tumors with varying morphologies, for which the molecular mechanisms are becoming increasingly well characterized. Congenital infantile fibrosarcoma (CIFS), perhaps the most well studied of these lesions is characterized by a recurrent ETV6-NTRK3 gene fusion. However, a notable subset of locally aggressive congenital/infantile soft tissue lesions with similar morphologic features to CIFS, have not to-date, shown evidence of any canonical molecular aberration...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28525423/congenital-infantile-fibrosarcoma-associated-with-a-lipofibromatosis-like-component-one-train-may-be-hiding-another
#18
Romain Swiadkiewicz, Louise Galmiche, Kahina Belhous, Olivia Boccara, Sylvie Fraitag, Florence Pedeutour, Bérangère Dadone, Jacques Buis, Arnaud Picard, Daniel Orbach, Natacha Kadlub
Congenital infantile fibrosarcoma (CIFS) is a soft tissue sarcoma of infants mainly involving lower extremities and usually developing during the first year of life. At another end of the spectrum of pediatric fibroblastic lesions, lipofibromatosis is a rare benign infiltrative soft tissue tumor that affects children. The authors report in this study a particular presentation with a CIFS surrounded by lipofibromatosis-like areas. The presence of a surrounding benign tumor confused and delayed CIFS diagnosis...
June 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28510278/tfg-met-fusion-in-an-infantile-spindle-cell-sarcoma-with-neural-features
#19
Uta Flucke, Max M van Noesel, Marc Wijnen, Lei Zhang, Chun-Liang Chen, Yun-Shao Sung, Cristina R Antonescu
An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here, we report an unusual spindle cell sarcoma presenting as a large and infiltrative pelvic soft tissue mass in a 4-month-old girl, which revealed a novel TFG-MET gene fusion by whole transcriptome RNA sequencing. The tumor resembled the morphology of an infantile fibrosarcoma with both fascicular and patternless growth, however, it expressed strong S100 protein immunoreactivity, while lacking SOX10 staining and retaining H3K27me3 expression...
September 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28509377/h3-1-k36m-mutation-in-a-congenital-onset-soft-tissue-neoplasm
#20
Kristin D Kernohan, David Grynspan, Raveena Ramphal, Eric Bareke, You Chang Wang, Elizabeth Nizalik, Jiannis Ragoussis, Nada Jabado, Kym M Boycott, Jacek Majewski, Sarah L Sawyer
We describe a patient who presented with a congenital soft tissue lesion initially diagnosed as infantile fibromatosis at 15 days of age. Unusually, the mass demonstrated malignant progression leading to death at 20 months of age. Biological progression to malignancy is not known to occur in fibromatosis, and fibrosarcoma is not known to progress from a benign lesion. Whole-exome sequencing of the tumor identified a driver mutation in histone H3.1 at lysine (K)36. Our findings support the link between oncohistones and infantile soft tissue tumors and provide additional evidence for the oncogenic effects of p...
December 2017: Pediatric Blood & Cancer
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