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Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.
Endocrinol Diabetes Metab Case Rep
October 2024
Summary: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition characterized by multiple cutaneous and uterine leiomyomas and renal cell cancer (RCC). HLRCC is caused by germline pathogenic/likely pathogenic (P/LP) variants in the fumarate hydratase (FH) gene on chromosome 1q42.3, encoding the mitochondrial enzyme responsible for the conversion of fumarate to malate in the Krebs cycle.
View Article and Find Full Text PDFA rare case of FH-deficient renal cell carcinoma with signet ring cells features.
Diagn Pathol
December 2024
Shenzhen Hospital, National Cancer Center, National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen, China.
Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a clinically aggressive tumor with high rates of progression and mortality. A wide range of morphological variations has been observed in FH-deficient RCC, initially described as type 2 papillary RCC or unclassified RCC. Here, we report a case of FH-deficient RCC with rare signet ring cells features.
View Article and Find Full Text PDFA rare case of numerous parasitic myomas after laparoscopic myomectomy.
J Obstet Gynaecol Res
January 2025
Department of Obstetrics and Gynecology, Fujita Health University, Bantane Hospital, Nagoya, Japan.
Parasitic myoma is a relatively rare disease in which one or more leiomyomas form outside the uterus; however, the detailed causes are unknown. Few sporadic reports are available, and per our research, the maximum number of parasitic myomas reported to date was 26, and almost all cases were treated by surgical resection. We report a rare case of numerous parasitic myomas in the abdominal cavity, possibly including an intrathoracic lesion, which could not be resected completely.
View Article and Find Full Text PDFAn Unheard Variant of Leiomyoma Cotyledonoid Dissecting Leiomyoma: Case Report.
J Midlife Health
October 2024
Department of Pathology, Esic Medical College and Hospital, Faridabad, Haryana, India.
Article Synopsis
- Leiomyomas are non-cancerous tumors of the uterine smooth muscle that can have various forms and are known to undergo secondary changes, sometimes resembling more serious conditions.
- A rare type called cotyledonoid dissecting leiomyoma (CDL) can appear as large, abnormal masses, leading to misdiagnosis as cancer due to its size and complexity.
- The article includes a case study of a 65-year-old woman with CDL, highlighting the need for awareness among healthcare professionals to prevent unnecessary aggressive treatments.
Ultrasound findings of ovarian intravenous leiomyomatosis: a case report.
Front Oncol
October 2024
Medical Records Statistics Division, Deyang People's Hospital, Deyang, Sichuan, China.
Intravenous leiomyomatosis (IVL), an abnormal growth pattern of uterine leiomyomas, is a rare tumor characterized by masses of smooth muscle cells appearing histologically benign and proliferating within the blood vessels but not invading the tissue. Currently, there have been limited reports of early cases of IVL, and the imaging characteristics of IVL remain uncertain, resulting in frequent misdiagnosis prior to surgery. The present study utilized a case of early IVL detected through conventional ultrasound and subsequently confirmed contrast-enhanced ultrasound (CEUS) to further investigate ultrasound's diagnostic efficacy for early IVL detection.
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