The differential diagnosis of fetal facial tumors: A case report of a neonatal granular cell tumor (GCT)
We present a case of prenatally suspected proboscis lateralis. This diagnosis was revised postnatally to a facial hemangioma. The tumor did not regress with β-blocker therapy for 5 months, and so a biopsy was then performed, which showed it was a granular cell tumor (GCT). This was later successfully excised, with clear margins. This case is important because there has been only one reported case of neonatal GCT, and because it shows that even with technologically advanced prenatal diagnostic methods, reaching the correct diagnosis can still be challenging.
Cardiac cavernous hemangiomas are extremely rare and usually difficult to be diagnosed for being asymptomatic.
We report eight cases of intraosseous venous malformation that were inappropriately labelled as haemangioma by clinicians, pathologists, and radiologists. We highlight tailored management, and describe the clinical features, results of investigations to aid accurate designation (histological and immunohistochemical, including GLUT1 staining and cross-sectional imaging), and outcomes.
Conclusions Leiomyoma is an important consideration when developing a differential diagnosis for primary benign masses in the hand. We hope that this comprehensive review can provide increased awareness of this tumor type.
Pulmonary hypertension (PH) remains one of the rarest and deadliest diseases. Pulmonary Capillary Hemangiomatosis (PCH) is one of the sub-classes of PH. It was identified using histological and molecular tools...
CONCLUSIONS: The exact diagnosis of these lesions is difficult due to their rarity and they must always be considered for differential diagnosis. PMID: 31697257 [PubMed - in process]
In this study, we investigated the clinicopathological and molecular features of 26 AHs. By Sanger sequencing and MassARRAY analysis, mutually exclusive mutations in exon 5 ofGNAQ,GNA11, andGNA14 were identified in 10, 5, and 5 tumors, respectively, of the 22 investigated tumors, with an overall mutation rate of 91%. No notable differences in the clinicopathological features were observed betweenGNAQ-,GNA11-, orGNA14-mutated tumors. Our results implicatedGNA11 mutations, as well as previously known mutations of its paraloguesGNAQ andGNA14, as essential drivers in the pathogenesis of AH.
Publication date: Available online 7 November 2019Source: The Annals of Thoracic SurgeryAuthor(s): Lei Peng, Han-Yu Deng, Chang-Long Qin, Qinghua Zhou
PMID: 31706870 [PubMed - as supplied by publisher]
Cardiac hemangiomas are rare cardiac neoplasia usually diagnosed in autopsies, from being asymptomatic to debuting with sudden death. The largest hemangioma published in the literature is of 130 mm size, we pr...