Co-occurrence of neuroblastoma and nephroblastoma in an infant with Fanconi's anemia

Bissig, Heidi; Staehelin, F; Tolnay, Markus; Avoledo, Pierino; Richter, Jan; Betts, David R.; Bruder, Elisabeth; Kühne, Thomas

doi:10.1053/hupa.2002.128062

Cited by 20 publications

(15 citation statements)

References 11 publications

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“…Steward VW, et al (10) Sokolova IN (9) Sirinelli D, et al (8) Ito F, et al (6) Bissig H, et al (4) Berrebi D, et al (3) Moran C, et al (7) Çeçen E, et al Çocukluk çağında senkronize tümörler oldukça ender görülse de, WT ve pNTs birlikteliğinin genetik yatkınlık olmasa bile birlikteliği olasıdır (Tablo 1). Bildiğimiz kadarıyla, bu çalışma altta herhangi bir kansere yatkınlık sendromunu düşündürecek fiziksel bulgusu olmayan bir çocukta ERWT ve ganglionöroblastom birlikteliği olan ilk rapordur.…”

Section: Yazarunclassified

“…Ganglionö-roblastomalar histolojik özellikleri, ganglionorom ve nöroblastom arasında yer alan, diferansiye nöroblast-ların hâkim olduğu kapsüllü olmasına rağmen, lokal invazyon yapabilen periferik nöroblastik tümörlerden (pNTs) biridir. Çocuklarda Wilms tümörü ile birlikte pNTs'in senkronize olarak ortaya çıkması çok enderdir ve daha önce yayınlanmış yalnızca sekiz olgu bildirimi mevcuttur (3)(4)(5)(6)(7)(8)(9)(10) , ERWT ve pNTs birlikteliği ise henüz bildirilmemiştir. Bu çalışmada, senkronize olarak ortaya çıkmış, sol inguinal kanal yerleşimli ERWT ve sol sürrenal kökenli ganglionöroblastom tanısı olan bir çocuk olgu ilgili literatür eşliğinde sunulmuştur.…”

Section: Introductionunclassified

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Coexistence of Extrarenal Wilms’ tumor and Ganglioneuroblastoma in a child and literature review

Karaca¹,

Türk²,

Eroğlu³

et al. 2016

TCCD

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Coexistence of Extrarenal Wilms tumor and ganglioneuroblastoma in a child and literature review It is quite uncommon for multiple malignant tumors to ap- GirişEktopik nefrojenik kalıntılardan köken alan ve gö-ğüs boşluğu ile skrotum arasında herhangi bir alanda yerleşen ekstrarenal Wilms tümörlerinin (ERWT) en sık lokalizasyon yeri retroperitondur, inguinal kanal yerleşimli ERWT ise çok enderdir (1,2) . Ganglionö-roblastomalar histolojik özellikleri, ganglionorom ve nöroblastom arasında yer alan, diferansiye nöroblast-ların hâkim olduğu kapsüllü olmasına rağmen, lokal invazyon yapabilen periferik nöroblastik tümörlerden (pNTs) biridir. Çocuklarda Wilms tümörü ile birlikte pNTs'in senkronize olarak ortaya çıkması çok enderdir ve daha önce yayınlanmış yalnızca sekiz olgu bildirimi mevcuttur (3)(4)(5)(6)(7)(8)(9)(10) , ERWT ve pNTs birlikteliği ise henüz bildirilmemiştir. Bu çalışmada, senkronize olarak ortaya çıkmış, sol inguinal kanal yerleşimli ERWT ve sol sürrenal kökenli ganglionöroblastom tanısı olan bir çocuk olgu ilgili literatür eşliğinde sunulmuştur. Olgu sunumu

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Section: Yazarunclassified

Section: Introductionunclassified

Coexistence of Extrarenal Wilms’ tumor and Ganglioneuroblastoma in a child and literature review

Karaca¹,

Türk²,

Eroğlu³

et al. 2016

TCCD

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“…In addition to the Neurocristopathy syndromes, NB cases are also seen in other familial cancer syndromes like Beckwith-Weidemann syndrome (art2ref38), Noonan syndrome, Li-Fraumeni syndrome [25,26], Fanconi anemia and other chromosomal breakage syndromes [21,27].…”

Section: Hereditary Predisposition To Neuroblastoma and Associated Symentioning

confidence: 99%

“…The median age of onset for familial neuroblastoma is at around 9 months of age. Familial neuroblastoma patients difer from their sporadic counterparts in that they are diagnosed at an earlier age and/or with multiple primary tumors and are associated with other cancer predisposition syndromes [20][21][22].…”

Section: Hereditary Predisposition To Neuroblastoma and Associated Symentioning

confidence: 99%

Neuroblastoma: The Clinical Aspects

Bhat¹,

McGregor²

2017

Neuroblastoma - Current State and Recent Updates

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Neuroblastoma is a predominantly pediatric cancer, arising from the primordial neural crest cells that form the sympathetic nervous system. The prognosis for patients with neuroblastoma can vary from uniform survival in low risk patients to fatality in patients with high risk disease. This chapter gives a brief overview of the epidemiology, genetics, clinical presentation, diagnosis, and discussion of the various staging systems and risk classiications of neuroblastoma. We also briely describe our understanding of the conventional and novel treatment modalities available and their efects on the current prognosis of patients with neuroblastoma. The purpose of this chapter is to serve as a brief overview of the clinical aspects of neuroblastoma, to serve as a foundation of knowledge for scientists aspiring to develop new therapeutic modalities for this dreadful pediatric disease.

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“…However, a former hypothesis that mutations in FA genes would be found in FA-typical neoplasms in the general population has not been confirmed, suggesting that not FA gene mutations alone but additional, more or less randomly occurring events such as amplification or deletion of oncogenes or tumor suppressor genes, respectively, must be involved in tumor development in FA patients of subtypes D1 or N. An example is the early report on the co-occurrence of WT and NB in an infant with FA with gain of chromosome 17q material in the NB which is considered an important prognosis factor [Bissig et al, 2002].…”

mentioning

confidence: 99%

Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia

Serra

Eirich²,

Winkler

et al. 2012

Mol Syndromol

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Concurrent emergence of nephroblastoma (Wilms Tumor; WT) and neuroblastoma (NB) is rare and mostly observed in patients with severe subtypes of Fanconi anemia (FA) with or without VACTER-L association (VL). We investigated the hypothesis that early consequences of genomic instability result in shared regions with copy number variation in different precursor cells that originate distinct embryonal tumors. We observed a newborn girl with FA and VL (aplasia of the thumbs, cloacal atresia (urogenital sinus), tethered cord at L3/L4, muscular ventricular septum defect, and horseshoe-kidney with a single ureter) who simultaneously acquired an epithelial-type WT in the left portion of the kidney and a poorly differentiated adrenal NB in infancy. A novel homozygous germline frameshift mutation in PALB2 (c.1676_c1677delAAinsG) leading to protein truncation (pGln526ArgfsX1) inherited from consanguineous parents formed the genetic basis of FA-N. Spontaneous and induced chromosomal instability was detected in the majority of cells analyzed from peripheral lymphocytes, bone marrow, and cultured fibroblasts. Bone marrow cells also showed complex chromosome rearrangements consistent with the myelodysplastic syndrome at 11 months of age. Array-comparative genomic hybridization analyses of both WT and NB showed shared gains or amplifications within the chromosomal regions 11p15.5 and 17q21.31-q25.3, including genes that are reportedly implicated in tumor development such as IGF2, H19, WT2, BIRC5, and HRAS.

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Co-occurrence of neuroblastoma and nephroblastoma in an infant with Fanconi's anemia

Cited by 20 publications

References 11 publications

Coexistence of Extrarenal Wilms’ tumor and Ganglioneuroblastoma in a child and literature review

Coexistence of Extrarenal Wilms’ tumor and Ganglioneuroblastoma in a child and literature review

Neuroblastoma: The Clinical Aspects

Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia

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