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Uterine Tubes01:16

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The uterine or fallopian tubes function as the conduit through which oocytes travel from the ovaries to the uterus. Each fallopian tube measures approximately 10 to 13 cm long and is anatomically divided into the infundibulum, ampulla, isthmus, and interstitial part (or intramural segment). The infundibulum is characterized by its funnel shape and features extensions called fimbriae which reach towards the peritoneal cavity. These fimbriae play a critical role during ovulation as they extend...
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The uterus, commonly called the womb, is a vital reproductive organ in females designed to provide a nurturing environment for the implantation and growth of an embryo. It is shaped like a hollow pear and positioned between the urinary bladder and the rectum. The uterus's structure allows it to support and protect a developing fetus throughout pregnancy.
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The uterine wall consists of three histological layers: the perimetrium, myometrium, and endometrium. The outermost perimetrium is a thin, serous membrane connected with the broad ligament on the sides, which helps anchor the uterus in the pelvic cavity. The thickest layer, myometrium, is mainly made up of smooth muscle tissue bundles. Its contractions are vital in facilitating the expulsion of the uterine lining, fetus, and placenta during menstruation and childbirth.
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[A special uterine leiomyoma].

Anaïs Brunet1, Virginie Verkarre1, Marie-Aude Le Frère Belda1

  • 1Hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France.

Annales De Pathologie
|March 21, 2020
PubMed
Summary

Fumarate hydratase (FH)-deficient uterine leiomyomas are rare tumors. This case highlights a large leiomyoma in a young woman, emphasizing the need for genetic screening in suspected hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.

Keywords:
Fumarate hydrataseFumarate hydratase–deficient leiomyomaHLRCCHereditary leiomyoma and renal cell carcinoma syndromeLeiomyomaLéiomyomeLéiomyome fumarate hydratase déficientSyndrome de prédisposition héréditaire à la léiomyomatose et au cancer du rein

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Area of Science:

  • Gynecologic Pathology
  • Oncology
  • Genetics

Background:

  • Fumarate hydratase (FH)-deficient uterine leiomyomas are uncommon, accounting for 1% of all uterine leiomyomas.
  • These tumors are characterized by distinct morphology and loss of FH protein expression due to FH gene inactivation.
  • They can arise sporadically or be associated with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, linked to germline FH gene mutations.

Observation:

  • The case involves a significant 20cm uterine leiomyoma in a 32-year-old woman.
  • Morphologic and immunohistochemical findings were indicative of an FH-deficient leiomyoma.
  • Distinctive microscopic features, particularly at the nuclear level, are crucial for diagnosis.

Findings:

  • The presented leiomyoma exhibited characteristics consistent with FH deficiency.
  • This diagnosis is particularly relevant in young women with multiple or large leiomyomas and specific microscopic findings.
  • Genetic screening is vital for identifying hereditary forms and enabling appropriate patient and family management.

Implications:

  • Early identification of FH-deficient leiomyomas, especially in young women, is critical.
  • Genetic screening is essential for diagnosing HLRCC syndrome and initiating necessary surveillance and family screening.
  • Recognizing these tumors aids in timely diagnosis and management, potentially improving patient outcomes.