Primary small cell carcinoma of the nose and paranasal sinuses is very rare; only a few reports are present in the English literature. The author herein reports a very rare case of primary small cell carcinoma of the maxillary sinus with an emphasis on immunohistochemistry and on KIT and PDGFRA. A 64-year-old man was admitted to our hospital because of left nasal obstruction. Endoscopy revealed...

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Table 1. Summary of Korean cases of chronic eosinophilic leukemia with FIP1L1-PDGFRA rearran...

The author herein reports histopathologic features of 31 surgical cases of gastrointestinal stromal tumor (GIST) of the digestive organs. The 31 cases of GIST were diagnosed in our pathology laboratory. They consisted of 24 cases of gastric GIST, 1 case of hepatic GIST, 1 case of small intestinal GIST, 4 cases of colon GIST, and 1 case of rectal GIST. The age of the patients ranged from 56 year...

PURPOSE Corneal curvature is a key determinant of the refractive power of the eye. Variants in two genes, FKBP12-rapamycin complex-associated protein 1 (FRAP1) on chromosome 1p36.2 and platelet-derived growth factor receptor alpha (PDGFRA) on chromosome 4q12, have shown genome-wide significant association with normal variation in corneal curvature in a study of subjects of Asian origin. Variant...

Purpose:Gastrointestinal stromal tumors (GIST) are characterized by gain-of-functionmutations inKIT/ PDGFRA genes leading to a constitutive receptor activation which is well counteracted by imatinib. However, cases in which imatinib as first-line treatment has no effects are reported (primary resistance). Our purpose is to investigate alterations in downstream effectors, not reported so far in ...

GISTs are driven by genetic aberrations, mostly observed within KIT and PDGFRA genes. Standard first-line therapy for inoperable/metastatic GIST includes imatinib. The presence of specific alterations may impact imatinib efficacy patients' survival. We aimed to analyze the PDGFR mutation in patients with treated first line two cohorts according anatomical location. Prospectively collected data ...

PURPOSE Irregularity in the corneal curvature (CC) is highly associated with various eye disorders such as keratoconus and myopia. The sample had limited power to find genomewide significant (5 × 10(-8)) hits but good power for replication. Thus, an attempt was made to test whether alleles in the FRAP1 and PDGFRA genes, recently found to be associated with CC in Asian populations, also influenc...

The author herein reports a large cell neuroendocrine carcinoma (LCNEC) of the lung diagnosed at a brain metastasis without clinical data. A 70-year-old man underwent esophagectomy for esophageal squamous cell carcinoma, and was treated with chemotherapy. At 72 years of age, he was found to have prostatic well differentiated adenocarcinoma, and treated by estrogen. At 78 years of age, he was po...

Originating as a single vessel emerging from the embryonic heart, the truncus arteriosus must septate and remodel into the aorta and pulmonary artery to support postnatal life. Defective remodeling or septation leads to abnormalities collectively known as conotruncal defects, which are associated with significant mortality and morbidity. Multiple populations of cells must interact to coordinate...