RESUMO
Recurrent fusions involving neurotrophin tyrosine receptor kinase (NTRK) genes have been increasingly recognised in spindle cell tumours of somatic soft tissues due to the widespread use of RNA-based sequencing techniques. This heterogeneous group of neoplasms is included as an emerging entity in the current WHO Classification of Soft Tissue and Bone Tumors A subset of these tumours, associated with NTRK1 fusions, displays a distinctive phenotype in the form of monomorphic cytomorphology, patternless arrangement, perivascular and stromal hyalinisation, and CD34+/S100+/SOX10- immunoprofile. Gastrointestinal tract counterparts have been recently described with emphasis on distinction from KIT/PDGFRA/BRAF/RAS wild-type gastrointestinal stromal tumours (GIST). Here, we present a recently encountered intestinal spindle cell neoplasm harbouring an LMNA::NTRK1 gene fusion in a woman in her early 20s, which was initially thought to represent a GIST or a solitary fibrous tumour. Awareness of this emerging tumour type in the gastrointestinal tract is important due to treatment implications.
Assuntos
Tumores do Estroma Gastrointestinal , Feminino , Humanos , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/genética , Fusão Gênica , Antígenos CD34/metabolismo , Receptor trkA/genética , Biomarcadores Tumorais/genética , Lamina Tipo A/genéticaRESUMO
OBJECTIVE: To determine the significance of transient ischemic dilatation (TID) in patients with normal perfusion on adenosine stress/rest. METHODS: We analyzed 430 consecutive patients with normal perfusion on 2-day adenosine stress/rest 99mTc-sestamibi. A group of 70 patients with Framingham 10-year coronary heart disease risk < 10% was used to derive abnormal TID thresholds (derivation group). The significance of TID at these thresholds was validated in the remaining 360 patients (validation group) followed for cardiac events for 31.2 ± 9.7 (mean ± SD) months. RESULTS: Transient ischemic dilatation in the derivation group was 1.05 ± 0.13. Three definitions of an abnormal TID were used: > mean + 2SD (TID ≥ 1.32), > mean + 1SD (TID ≥ 1.19) and a TID in the group's highest quartile (TID ≥ 1.15). Of the 360 validation group patients, 12 (3.3%), 48 (13.3%) and 70 (19.4%) had TID ≥ 1.32, 1.19 and 1.15, respectively. Age, gender, family history of coronary artery disease (CAD), known CAD, smoking, hypertension, diabetes, dyslipidemia, rest LVEF, post-stress LVEF, ΔLVEF, ≥ 5% or 10% decrease in LVEF did not predict TID ≥ 1.32. However, TID ≥ 1.19 was predicted by rest LVEF and ≥ 5% decrease in LVEF (P = 0.04 and 0.02, respectively) and TID ≥ 1.15 was predicted by ≥ 5% decrease in LVEF (P = 0.02). Cardiac event-free survivals were similar in patients with a TID ≥ and < 1.32 (P = 0.68), ≥ and < 1.19 (P = 0.40) and ≥ and < 1.15 (P = 0.79). CONCLUSIONS: Transient ischemic dilatation does not confer adverse prognosis in patients with normal perfusion on adenosine stress/rest 99mTc-sestamibi irrespective of the threshold used for its definition.