RESUMO
A 44-yr-old woman with menorrhagia and uterine fibroids underwent total laparoscopic hysterectomy, revealing several submucosal, intramural, and subserosal tan-white nodules in the uterus. Microscopic examination revealed tumors displaying 3 distinct morphologies: 1 tumor with features of conventional leiomyoma; 1 tumor with increased cellularity, staghorn/hemangiopericytoma-like vasculature, and occasional atypical cells with prominent red nucleoli and some perinucleolar halos suggesting a fumarate hydratase (FH)-deficient atypical leiomyoma; and 1 tumor with an admixture of epithelioid and spindled cells with the former arranged around blood vessels suggesting a perivascular epithelioid cell tumor (PEComa). Immunohistochemical studies confirmed these diagnoses by demonstrating loss of FH expression in the atypical leiomyoma and diffuse expression of HMB45 and cathepsin K in the tumor with epithelioid features. Sanger sequencing analysis revealed that the FH-deficient atypical leiomyoma harbored a c.181A>G (p.Lys61Glu) mutation in exon 2 of the FH gene. As this mutation was not present in either the other tumors or peripheral blood, the mutation is somatic and hereditary leiomyomatosis and renal cell cancer syndrome is excluded. This case highlights the importance of thorough examination of uterine mesenchymal tumors with atypical and epithelioid features so that tumors with some potential for recurrence (PEComas) and those that might indicate a hereditary cancer syndrome (FH-deficient atypical leiomyoma) are identified and can trigger appropriate clinical investigation and follow-up.
Assuntos
Fumarato Hidratase/genética , Leiomioma/diagnóstico , Síndromes Neoplásicas Hereditárias/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Neoplasias Uterinas/diagnóstico , Adulto , Substituição de Aminoácidos , Diagnóstico Diferencial , Éxons/genética , Feminino , Fumarato Hidratase/metabolismo , Humanos , Histerectomia , Imuno-Histoquímica , Leiomioma/complicações , Leiomioma/genética , Leiomioma/patologia , Síndromes Neoplásicas Hereditárias/complicações , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias de Células Epitelioides Perivasculares/complicações , Neoplasias de Células Epitelioides Perivasculares/genética , Neoplasias de Células Epitelioides Perivasculares/patologia , Neoplasias Uterinas/complicações , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Útero/patologia , Útero/cirurgiaRESUMO
Elastofibroma dorsi (ED) is a soft tissue tumor found in the subscapular region. The pathogenesis of ED is unclear, but may involve a regenerative or reactive hyperproliferation due to mechanical microtrauma. Magnetic resonance imaging (MRI) is preferred to diagnose ED and complete excision is curative. When bilateral, subscapular masses are identified in the elderly patient and MRI characteristics are typical, biopsy and excision can be avoided. Symptomatic EDs should be excised, and recurrence is rare. Three hundred and thirty cases of ED have been reported since 1980. Fourteen case series and 43 isolated case reports involved 263 women and 67 men (F:M ratio = 3.9:1), with a mean age of 62 years (range 6-94 years). Bilateral ED was present in 164 patients and unilateral ED in 157. The reported prevalence in the elderly population ranges from a minimum of 2% to a maximum of 24%.
