Rhabdomyomas are rare benign mesenchymal tumors of striated muscle origin. These are classified as cardiac and extracardiac types. Extracardiac type is further classified as adult, fetal and genital types. Adult rhabdomyoma represents <2% of all muscular tumors. It mostly occurs in adults (median: 60 years). Males are more commonly affected (M:F = 3:1) and usually present as solitary lesion. We report a rare case of multinodular adult rhabdomyoma arising from the floor of the mouth. A 55-year-old female presented with a painless, soft, mobile, nontender and multinodular swelling in the right submandibular region and the floor of the mouth for 2 months. Fine-needle aspiration cytology showed cellular smears of large elongated to round cells with abundant eosinophilic granular cytoplasm, small nuclei and occasionally prominent nucleoli. Histology revealed partially encapsulated lesion showing sheets of large, oval to polygonal cells with abundant deeply eosinophilic and granular cytoplasm, with small peripherally placed nuclei with few cells showing prominent nucleoli. Prominent cytoplasmic vacuolations (periodic acid-Schiff positive) were present. The cells were positive for desmin and myogenin. This case is an extremely rare presentation of multinodular adult rhabdomyoma in a female. The correct identification of this lesion is important to avoid an unnecessarily aggressive resection, yet providing potentially curative therapy.
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http://dx.doi.org/10.4103/jomfp.JOMFP_4_19 | DOI Listing |
Arch Gynecol Obstet
January 2025
Department of Congenital Cardiac Surgery, IRCCS Policlinico San Donato, 20097, San Donato, Milan, Italy.
Objectives: Congenital thoracic masses (CTMs) are suspected in presence of solid or cystic thoracic lesions at ultrasound. The common typical fetal CTMs encompass: hyperechogenic lung lesions such as congenital pulmonary airway malformation (CPAM), broncopulmonary sequestration (PS) and congenital high airway obstruction syndrome (CHAOS); less common solid thoracic masses are mediastinal/pericardial tumors as rhabdomyoma and teratoma. The aim of our study is to gather the available evidence on cases of atypical CTMs of difficult classification, for which the diagnosis remains often uncertain.
View Article and Find Full Text PDFDiscov Oncol
January 2025
Department of Pathology, St. Paul Millennium Medical College and ONCO Pathology Diagnostic Center, Addis Ababa, Ethiopia.
Rhabdomyoma is a rare benign tumor of striated muscle, which can be either cardiac or extracardiac. Extracardiac rhabdomyomas can occur throughout the body, though the fetal and adult subtypes are most commonly found in the head and neck region.We present three pediatric cases of extracardiac rhabdomyoma, fetal subtype, detailing their clinical presentations, computed tomography imaging, and tissue biopsy findings.
View Article and Find Full Text PDFMol Genet Genomics
December 2024
Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Urology, Seirei Yokohama Hospital, Yokohama, Japan.
J Med Genet
November 2024
ULR 7364-RADEME, Univ. Lille, CHU Lille, F-59000 Lille, France.
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal disorder, primarily characterised in adults by cutaneous features, pulmonary cysts that predispose to spontaneous pneumothorax and renal tumours. The syndrome is caused by pathogenic variants in the tumour suppressor gene, which plays a role in the mammalian target of rapamycin (mTOR) signalling pathway. We present the case of a newborn infant diagnosed with BHDS, who died of sudden cardiac death due to complications from cardiac rhabdomyoma.
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