RESUMEN
Uveal melanoma is a rare, but deadly, form of eye cancer that arises from melanocytes within the uveal tract. Although advances have emerged in treatment of the primary tumour, patients are still faced with vision loss, eye enucleation and lethal metastatic spread of the disease. Approximately 50% of uveal melanoma patients develop metastases, which occur most frequently in the liver. Metastatic patients encounter an extremely poor prognosis; as few as 8% survive beyond 2 years. Understanding of the genetic underpinnings of this fatal disease evolved in recent years with the identification of new oncogenic mutations that drive uveal melanoma pathogenesis. Despite this progress, the lack of successful therapies or a proven standard-of-care for uveal melanoma highlights the need for new targeted therapies. This review focuses on the recently identified CYSLTR2 oncogenic mutation in uveal melanoma. Here, we evaluate the current status of uveal melanoma and investigate how to better understand the role of this CYSLTR2 mutation in the disease and implications for patients harbouring this mutation.
Asunto(s)
Melanoma/etiología , Melanoma/metabolismo , Proteínas Oncogénicas/genética , Proteínas Oncogénicas/metabolismo , Receptores de Leucotrienos/genética , Receptores de Leucotrienos/metabolismo , Neoplasias de la Úvea/etiología , Neoplasias de la Úvea/metabolismo , Animales , Biomarcadores de Tumor , Carcinogénesis , Modelos Animales de Enfermedad , Predisposición Genética a la Enfermedad , Variación Genética , Xenoinjertos , Humanos , Melanoma/tratamiento farmacológico , Melanoma/epidemiología , Terapia Molecular Dirigida , Pronóstico , Transducción de Señal , Neoplasias de la Úvea/tratamiento farmacológico , Neoplasias de la Úvea/epidemiologíaRESUMEN
We report a case of adenomyosis which developed from a hypoplastic uterus and leiomyoma in a patient with MRKH syndrome. A 45-year-old Malay female with primary amenorrhoea and primary infertility presented with abdominal mass and abdominal pain. She is phenotypically female, has well developed secondary sexual characteristics, and has normal female external genitalia with shallow vagina dimple. Transabdominal ultrasonography showed a homogenous adnexal mass of 10 × 8 cm, uterus sized 5 × 4 cm, and normal kidneys. A complex mass of right adnexa was demonstrated by CT scan. Exploratory laparotomy showed torsion of right adnexal mass and rudimentary uterus with fibroid but no endometrial tissue and blind end with absent cervix. The normal right ovary and tube were not visualized. The left fallopian tube and ovary were normal. It is also complicated by vaginal agenesis. Removal of right adnexal mass and rudimentary uterus was done with preservation of left ovary. The histologic diagnosis was uterine adenomyosis and leiomyoma arising from the right adnexa, possibly from the broad ligament.