This study describes the ultrasound diagnostic process and management in a patient with a unique, rare form of fibroids, i.e. the atypical variant. According to the WHO definition, an atypical uterine myoma cannot be histologically unambiguously diagnosed as benign or malignant. Atypical leiomyomas are characterized by moderate or high quantity of pleomorphic atypical tumor cells, with a small number of mitotic divisions and lack of coagulative necrosis in the tumor. They have a low rate of extrauterine, intraabdominal recurrence, with a negligible risk for distant metastases. Due to the fact the atypical variant of leiomyomas is very rare, it presents a significant diagnostic challenge for obstetricians. The most reliable diagnosis can be made only on the basis of the histopathological examination. In this paper, we present a case of a patient in whom an echo with the diameter of 92 mm and a heterogeneous echogenicity with visible anechoic fields were discovered in the uterine fundus. HD color Doppler demonstrated high vascularization within the tumor, peripherally as well as centrally. The peripheral and central vascularization was rated at 4/4 points on a scale by Exacoustos. The tumor in the uterus met the criteria of high probability of malignancy i.e. 8 points on the vascular scale (power Doppler scale ≥ 7 pts.), solid tumor and a size over 8 cm. Blood flow velocity and vascular resistance in the tumor vessels were evaluated (PSV - 5.76 cm/s, ED - 3.16 cm/s, RI - 0.45 S / D - 1.82). Blood flow in the tumor presented low resistance. Hysterectomy without oophorectomy, with an intraoperative histopathological examination, was performed, and a fibroid was confirmed. The tumor was soft, yellow, with small and medium level of dispersed atypia in microscopic examination. There was no necrosis or mitotic figures. The histopathological image confirmed the atypical leiomyoma of low risk of recurrence. Atypical fibroids are rare in gynecological oncology and they do not have the characteristic clinical course. Furthermore, they do not show the typical characteristics during imaging studies, including ultrasound screening, Sometimes, due to the sonographic image, they should be differentiated from sarcomas. Also, it is necessary to exclude malignancy because of their ambiguous histological characteristics.
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http://dx.doi.org/10.17772/gp/61712 | DOI Listing |
J Pathol
January 2025
SIREDO Oncology Center (Care, Innovation and Research for Children and AYA with Cancer), Institut Curie, Université Paris Cité, Paris, France.
Rhabdoid tumours (RT) are an aggressive malignancy affecting <2-year-old infants, characterised by biallelic loss-of-function alterations in SWI/SNF-related BAF chromatin remodelling complex subunit B1 (SMARCB1) in nearly all cases. Germline SMARCB1 alterations are found in ~30% of patients and define the RT Predisposition Syndrome type 1 (RTPS1). Uveal melanoma (UVM), the most common primary intraocular cancer in adults, does not harbour SMARCB1 alterations.
View Article and Find Full Text PDFHum Mol Genet
January 2025
Department of Human Genetics, Inselspital Bern, University of Bern, Freiburgstrasse 15, Bern 3010, Switzerland.
While de novo missense variants in the BTB domains of atypical RhoGTPase RHOBTB2 cause a severe developmental and epileptic encephalopathy, de novo missense variants in the GTPase domain or bi-allelic truncating variants are associated with more variable neurodevelopmental and seizure phenotypes. Apart from the observation of RHOBTB2 abundance resulting from BTB-domain variants and increased seizure susceptibility in Drosophila overexpressing RhoBTB, our knowledge on RHOBTB2-related pathomechanisms is limited. We now found enrichment for ion channels among the differentially expressed genes from RNA-Seq on fly heads overexpressing RhoBTB.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Paediatrics, King George's Medical College, Lucknow, Uttar Pradesh, India.
We present the case of a toddler displaying neuroregression post-acute gastroenteritis, initially suggesting neurodegenerative disorders. Further investigations showed atypical results-neuroimaging was inconsistent with suspected disorders, while fundus evaluation, evoked potentials and nerve conduction velocity were normal. Specialised tests using gas chromatography mass spectrometry and tandem mass spectrometry identified methylmalonic acidaemia (MMA), implicating abnormal neurometabolism.
View Article and Find Full Text PDFAm J Kidney Dis
January 2025
Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:
Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.
View Article and Find Full Text PDFPLoS Pathog
January 2025
Department of Clinical Microbiology and Applied Technology, Faculty of Medical Technology, Mahidol University, Bangkok, Thailand.
Expansion of atypical memory B cells (aMBCs) was demonstrated in malaria-exposed individuals. To date, the generation of P. vivax-specific aMBCs and their function in protective humoral immune responses is unknown.
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