Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1

Yap, Patrick; Super, Leanne; Qin, Jinyi; Burgess, Trent; Prodanovic, Zdenka; Edwards, Caitlin E.; Thomas, Rosemary; Carpenter, Karen; Tan, Tiong Yang

doi:10.1002/pbc.25812

Cited by 6 publications

(5 citation statements)

References 20 publications

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“…Loss of function of NF1 is responsible for the etiopathogenesis of clinical manifestations associated with this disorder. 8 Most of the pathogenic variants detected in NF1 are single-base substitutions, insertions, or deletions. 19 , 20 , 21 Other variants arise from multiple exon deletions or amplifications as well as microdeletions including NF1 and neighboring genes.…”

Section: Discussionmentioning

confidence: 99%

“… 26 Other possible explanations for the absence of pathogenic variants include somatic mosaicism or pathogenic variants of other genes in the RAS pathway which are known to be associated with overlapping clinical features. 7 , 8 We suggest that this diagnostic gap may be filled by RNA-seq as well as whole-genome analysis which could provide information about other gene/genes and the possibility of a deep intronic or regulatory region variant that is associated with the phenotype. 16 …”

Section: Discussionmentioning

confidence: 99%

“…6 In addition, members of RAS-related disorders may present with overlapping clinical findings, which can make diagnosis difficult, especially in the prenatal period. 7 , 8 Therefore, due to the complexity of clinical diagnosis, understanding the mechanism of molecular pathogenesis in NF1 would be useful to characterize this disorder. The pathogenic variants identified in NF1 mostly lead to decreased protein levels or a truncated protein.…”

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families

et al. 2021

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Background Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder that results in a predisposition to the growth of multiple tumors in the central nervous system, the peripheral nervous system, and the skin. The clinical manifestations of neurofibromatosis are associated with loss of neurofibromin expression which causes the upregulation of the RAS pathway. Although neurofibromatosis type 1 can be diagnosed based on the National Institutes of Health criteria, sometimes the diagnosis is difficult, in cases where the characteristic features do not develop. Moreover, other RAS-related disorders may present with significantly overlapping clinical features. Aims To determine the clinical and molecular genetic characteristics of Turkish patients with neurofibromatosis type 1. Study design Cross-sectional study. Methods For the genetic analysis of 27 Turkish families clinically diagnosed with NF1 between 1990 and 2019, we used a multi-step process consisting of next-generation sequencing, multiplex ligation-dependent probe amplification, and array-comparative genomic hybridization. Results In this study, we identified 11 novel and 11 previously reported single-nucleotide variants in 22 families. Whole gene deletions were detected by multiplex ligation-dependent probe amplification analysis in 3 families. Of those, array comparative genomic hybridization analysis defined a 17q11.2 deletion in 4 patients from 2 families and 1.2-Mb involving 1 unrelated patient. All patients with a deletion had facial dysmorphism, suggesting a peculiar phenotype in this group. We could not find any pathogenic variant in the 2 families that met the National Institutes of Health criteria. Conclusion The novel pathogenic variants identified in this study broaden the spectrum of pathogenic variants in NF1 and provide better clinical characterization of NF1. RNA-seq experiments are recommended in patients who meet the National Institutes of Health diagnostic criteria for NF but have not identified any variants in next-generation sequencing, multiplex ligation-dependent probe amplification, or array-comparative genomic hybridization analysis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families

et al. 2021

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“…Mutational analysis of NF1 gene found a 4-bp deletion NM_0010424 92.3:c.1756_1759delACTA; p.Thr586ValfsTer18 at exon 12a, yielding a putative truncated neurofibromin (Figure 3b). The variant has been previously described in different ethnic groups (Ars et al, 2003;Nemethova et al, 2013;Park & Pivnick, 1998;Pemov et al, 2017;Yap et al, 2017). ACMG/ AMP classifies this change as pathogenic (PVS1, PM2, PP3, PP4, PP5).…”

Section: Nf1 Geneticmentioning

confidence: 99%

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

Peces

Mena

Martín

et al. 2020

Molec Gen & Gen Med

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Background Autosomal dominant polycystic kidney disease (ADPKD) and neurofibromatosis type 1 (NF1) are both autosomal dominant disorders with a high rate of novel mutations. However, the two disorders have distinct and well‐delineated genetic, biochemical, and clinical findings. Only a few cases of coexistence of ADPKD and NF1 in a single individual have been reported, but the possible implications of this association are unknown. Methods We report an ADPKD male belonging to a family of several affected members in three generations associated with NF1 and optic pathway gliomas. The clinical diagnosis of ADPKD and NF1 was performed by several image techniques. Results Linkage analysis of ADPKD family was consistent to the PKD2 locus by a nonsense mutation, yielding a truncated polycystin‐2 by means of next‐generation sequencing. The diagnosis of NF1 was confirmed by mutational analysis of this gene showing a 4‐bp deletion, resulting in a truncated neurofibromin, as well. The impact of this association was investigated by analyzing putative genetic interactions and by comparing the evolution of renal size and function in the proband with his older brother with ADPKD without NF1 and with ADPKD cohorts. Conclusion Despite the presence of both conditions there was not additive effect of NF1 and PKD2 in terms of the severity of tumor development and/or ADPKD progression.

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“…We herewith describe an extremely rare case of mediastinal mature teratoma in a young woman with NF1 which was mimicking neurofibroma at the initial biopsy. To the best of our knowledge, only two cases of retroperitoneal and one case of testicular teratoma have been reported in patients with NF1 [ 2 - 4 ].…”

Section: Introductionmentioning

confidence: 99%

Mediastinal Teratoma Mimicking Neurofibroma in CT-Guided Biopsy in a Patient With Neurofibromatosis Type 1

Gkikas¹,

Mitsos²,

Antonopoulos³

et al. 2023

Cureus

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Teratomas are a type of germ cell tumor that may contain several different types of tissue. Neurofibroma is a benign peripheral nerve sheath tumor with the plexiform type being pathognomonic for neurofibromatosis type 1. We report a case of a 33-year-old woman with a background of Neurofibromatosis type 1 who presented with left-sided chest pain and shortness of breath. She was diagnosed with a large mediastinal mass which was confirmed from a CT-guided biopsy as neurofibroma. Following a multidisciplinary team discussion, she underwent mediastinal mass resection and the final histopathology report revealed mediastinal mature teratoma.

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Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1

Cited by 6 publications

References 20 publications

Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families

Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

Mediastinal Teratoma Mimicking Neurofibroma in CT-Guided Biopsy in a Patient With Neurofibromatosis Type 1

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