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A Rare TPM3-NTRK1 fusion in a fetal pelvic mass
Radiology Case ReportsEarly recognition and characterization of soft tissue tumors is important for proper fetal and maternal care. Here, we present sonographic, fetal and postnatal MRI, and pathological findings of a rare case of congenital NTRK-rearranged malignant spindle cell sarcoma with TPM3-NTRK1 fusion in a male fetus.
Maryam Kazelka +3 more
openaire +3 more sources
Molecular Genetics & Genomic MedicineBackground Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder caused by loss‐of‐function mutations of the NTRK1 gene, affecting the autonomic and sensory nervous system.
Jun Hee Cho +13 more
doaj +1 more source
Molecular Genetics & Genomic MedicineBackground Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal‐recessive condition, also known as hereditary sensory and autonomic neuropathy type IV (HSAN‐IV). The most commonly reported features include anhidrosis,
Tomoyasu Higashimoto +4 more
doaj +1 more source
A new mutation in NTRK1 gene is associated with congenital insensitivity to pain without anhidrosis
, 2019 Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessive disease characterized by pain insensitivity, frequent intermittent fevers, anhidrosis, self-mutilating actions and mental retardation.
Sobhani, Maryam +3 more
core +1 more source
Predisposing deleterious variants in the cancer-associated human kinases in the global populations.
PLoS ONEHuman kinases play essential and diverse roles in the cellular activities of maintaining homeostasis and growth. Genetic mutations in the genes encoding the kinases (or phosphotransferases) have been linked with various types of cancers.
Salman Ahmed Khan +6 more
doaj +1 more source
Proximity of TPR and NTRK1 rearranging loci in human thyrocytes
, 2005 Chromosomal rearrangements are frequently associated with cancer; the mechanisms underlying their cell-type specificity are poorly understood. Papillary thyroid carcinomas are marked by a high frequency of chromosome rearrangements involving the RET and ...
A. Greco +6 more
core +1 more source
A Case Report of Lung Adenocarcinoma with EGFR G719A Mutation and LMNA-NTRK1 Fusion
Chinese Journal of Lung CancerFusion variations of neurotrophic receptor tyrosine kinase (NTRK) are oncogenic drivers in various solid tumors such as breast cancer, salivary gland carcinoma, infant fibrosarcoma, etc.
Shiqi SONG +7 more
doaj +1 more source