1 Gynecologist oncologistIran university of medical sciencesTehran.Iran
2 Kashan University of Medical Sciences and Health Services
3 Iran University of Medical Sciences, Tehran, Iran
Hereditary non polyposis colorectal cancer (HNPCC) also known as lynch syndrome (LS), is an autosomal dominant cancer syndrome. Besides colorectal cancers it predisposes patients to extra-colonic cancers. The screening may be effective for early detection of colorectal cancers, whereas the efficacy of surveillance for other organ tumors has not yet been established. Despite several extra-colonic cancer have been reported on LS, we found a new face of it.
A 43-year-old G2L2 patient with chief complaint of abnormal uterine bleeding (AUB) referred to a gynecologist. A biopsy of her endometrium showed clear cell carcinoma, and the necessary work-ups have been done. But the patient's family history demonstrated HNPCC based on the Amsterdam 2 criteria. Germline mutations in the MSH2 gene and MSH6 gene in genetic testing, was consistent with diagnosis of lynch syndrome. After some years the patient presented to our hospital for fever, shimmering and abdominal LUQ pain. The patient had dyspnea, coughing, and had lost some weight. Spiral CT scan showed a solid cyst with heterogeneous enhancement in spleen, and hepatosplenomegaly.
In this paper, another case with endometrial cancer as a sentinel cancer of lynch syndrome is reported. This fact implicate that physicians should notice the family history of malignancies in patients with gynecologic cancers and consider lynch syndrome. Many case reports have been published, but any of them have not been reported spleen involvement yet.
- 1. Barrow E, Hill J, Evans DG. Cancer risk in Lynch syndrome. Familial cancer. 2013;12(2):229-40. 2. Lynch HT, Lynch P, Lanspa S, Snyder C, Lynch J, Boland C. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clinical genetics. 2009;76(1):1-18. 3. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. The New England journal of medicine. 2003;348(10):919-32. 4. Siraj AK, Prabhakaran S, Bavi P, Bu R, Beg S, Hazmi MA, et al. Prevalence of Lynch syndrome in a Middle Eastern population with colorectal cancer. Cancer. 2015;121(11):1762-71. 5. King M-C, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302(5645):643-6. 6. Umar A, Boland CR, Terdiman JP, Syngal S, Chapelle Adl, Rüschoff J, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. Journal of the National Cancer Institute. 2004;96(4):261-8. 7. Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genetics in Medicine. 2009;11(1):42. 8. Lu KH, Dinh M, Kohlmann W, Watson P, Green J, Syngal S, et al. Gynecologic cancer as a “sentinel cancer” for women with hereditary nonpolyposis colorectal cancer syndrome. Obstetrics & Gynecology. 2005;105(3):569-74. 9. Soliman PT, Broaddus RR, Schmeler KM, Daniels MS, Gonzalez D, Slomovitz BM, et al. Women with synchronous primary cancers of the endometrium and ovary: do they have Lynch syndrome? Journal of clinical oncology. 2005;23(36):9344-50. 10. Bengtsson D, Joost P, Aravidis C, Askmalm Stenmark M, Backman AS, Melin B, et al. Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort. The Journal of clinical endocrinology and metabolism. 2017;102(11):3928-32. 11. Lu Y, Milchgrub S, Khatri G, Gopal P. Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report. International journal of surgical pathology. 2017;25(3):253-7. 12. Pelizzo MR, Pennelli G, Zane M, Galuppini F, Colletti PM, Merante Boschin I, et al. Papillary thyroid carcinoma (PTC) in Lynch syndrome: Report of two cases and discussion on Lynch syndrome behaviour and genetics. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. 2015;74:9-16. 13. Pugalenthi A, Bradley C, Gonen M, Do KG, Strong V, Jarnagin W, et al. Splenectomy to treat splenic lesions: an analysis of 148 cases at a cancer center. Journal of surgical oncology. 2013;108(8):521-5. 14. Comperat E, Bardier-Dupas A, Camparo P, Capron F, Charlotte F. Splenic metastases: clinicopathologic presentation, differential diagnosis, and pathogenesis. Archives of pathology & laboratory medicine. 2007;131(6):965-9.