Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

AbstractBloom syndrome (BS) is a genomic and chromosomal instability disorder with prodigious cancer predisposition caused by pathogenic variants in BLM. We report the clinical and genetic details of a boy who first presented with infantile fibrosarcoma (IFS) at the age of 6 months and subsequently was diagnosed with BS at the age of 9 years. Molecular analysis identified the pathogenic germline BLM sequence variants (c.1642C>T and c.2207_2212delinsTAGATTC). This is the first report of IFS related to BS, for which we show that both BLM alleles are maintained in the tumor and demonstrate a TPM3-NTKR1 fusion transcript in the IFS. Our communication emphasizes the importance of long-term follow up after treatment for pediatric neoplastic conditions, as clues to important genetic entities might manifest later, and the identification of a heritable tumor predisposition often leads to changes in patient surveillance and management.

Download Full-text

Prenatal diagnosis of cervical masses by magnetic resonance imaging and 3D virtual models: perinatal and long-term follow-up outcomes

The Journal of Maternal-Fetal & Neonatal Medicine ◽

10.1080/14767058.2018.1543393 ◽

2018 ◽

Vol 33 (13) ◽

pp. 2181-2189

Author(s):

Ana Paula Pinho Matos ◽

Pedro Teixeira Castro ◽

Luciana de Barros Duarte ◽

Adauto Dutra Moraes Barbosa ◽

Pedro Daltro ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Prenatal Diagnosis ◽

Magnetic Resonance ◽

Resonance Imaging ◽

Virtual Models ◽

Long Term Follow Up

Download Full-text

Long-term follow-up of a Chinese patient with KCNV2-retinopathy

Ophthalmic Genetics ◽

10.1080/13816810.2020.1861307 ◽

2020 ◽

pp. 1-6

Author(s):

Hongxuan Lie ◽

Gang Wang ◽

Xiao Liu ◽

Xiaohong Meng ◽

Yanling Long ◽

...

Keyword(s):

Chinese Patient ◽

Long Term Follow Up

Download Full-text

A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation

Arquivos Brasileiros de Endocrinologia & Metabologia ◽

10.1590/s0004-27302008000800022 ◽

2008 ◽

Vol 52 (8) ◽

pp. 1337-1344 ◽

Cited By ~ 6

Author(s):

Ileana G. S. Rubio ◽

Ana Luiza Galrao ◽

Viviane Pardo ◽

Meyer Knobel ◽

Roberta F. Possato ◽

...

Keyword(s):

Molecular Analysis ◽

Congenital Hypothyroidism ◽

Thyroid Tissue ◽

Endoplasmatic Reticulum ◽

Iodine Nutrition ◽

Genes Expression ◽

Long Term Follow Up ◽

Tissue Specimens

OBJECTIVE: To extend the molecular analysis of the IVS30+1G>T intronic thyroglobulin (TG) mutation, and to report the eleven year follow-up of the affected patients. METHOSD: Two siblings with severe congenital hypothyroidism with fetal and neonatal goiter, harboring the IVS30+1G>T mutation were included. Nodular and non-nodular thyroid tissue specimens were collected. Specific thyroid genes expression was evaluated by real-timePCR and by immunohistochemistry. RESULTS: In non-nodular tissue specific thyroid genes mRNA were reduced when compared to normal thyroid sample. In the nodule, TPO and NIS expression was very low. Microscopic examinations showed very large follicular-lumina and swollen vesicles of endoplasmatic-reticulum. Strong cytoplasmatic and low follicular-lumen TG immunostaining were detected. Intracellular NIS, membrane TPO and TSHR immunostaining had higher positivity in non-nodular sample. Both patients had a long-term adequate developmental outcome, besides one patient have been lately-treated. CONCLUSIONS: IVS30+1G>T mutation not only lead to very enlarge endoplasmatic-reticulum, but also to alterations of specific thyroid genes expression. The clinical evolution of patients harboring these mutations strengthen the concept of the influence of environment, like iodine nutrition, to determine the final phenotypic appearance.

Download Full-text

Clinical features and molecular analysis of arginine-vasopressin neurophysin II gene in long-term follow-up patients with idiopathic central diabetes insipidus

Arquivos Brasileiros de Endocrinologia & Metabologia ◽

10.1590/s0004-27302010000300004 ◽

2010 ◽

Vol 54 (3) ◽

pp. 269-273 ◽

Cited By ~ 5

Author(s):

Sergio L. Batista ◽

Ayrton C. Moreira ◽

Jose Antunes-Rodrigues ◽

Margaret de Castro ◽

Lucila L. K. Elias ◽

...

Keyword(s):

Diabetes Insipidus ◽

Clinical Features ◽

Molecular Analysis ◽

Arginine Vasopressin ◽

Central Diabetes Insipidus ◽

Sequencing Analysis ◽

Long Term Follow Up ◽

Intron 2

INTRODUCTION: Central diabetes insipidus (DI) characterized by polyuria, polydipsia and inability to concentrate urine, has different etiologies including genetic, autoimmune, post-traumatic, among other causes. Autosomal dominant central DI presents the clinical feature of a progressive decline of arginine-vasopressin (AVP) secretion. OBJECTIVE: In this study, we characterized the clinical features and sequenced the AVP-NPII gene of seven long-term follow-up patients with idiopathic central DI in an attempt to determine whether a genetic cause would be involved. METHODS: The diagnosis of central DI was established by fluid deprivation test and hyper-tonic saline infusion. For molecular analysis, genomic DNA was extracted and the AVP-NPII gene was amplified by polymerase chain reaction and sequenced. RESULTS: Sequencing analysis revealed a homozygous guanine insertion in the intron 2 (IVS2 +28 InsG) of the AVP-NPII gene in four patients, which represents an alternative gene assembly. No mutation in the code region of the AVP-NPII gene was found. CONCLUSIONS: The homozygous guanine insertion in intron 2 (IVS2 +28 InsG) is unlikely to contribute to the AVP-NPII gene modulation in DI. In addition, the etiology of idiopathic central DI in children may not be apparent even after long-term follow-up, and requires continuous etiological surveillance.

Download Full-text