An Exceptional Vulvar Tumor: Myeloid Sarcoma of the Labia Majora.

Vulvar malignancies are rare and have diverse origins and presentations. The majority of these tumors are squamous cell carcinoma. An ulcerating vulvar tumor was found in a 74-yr-old woman presenting with fatigue and leukocytosis. Tumor biopsy revealed infiltration of blastoid cells from myeloid origin. Through bone marrow aspiration chronic myelomonocytic leukemia was diagnosed, of which the vulvar tumor was a rare extramedullary disease manifestation termed myeloid sarcoma. Limited palliative treatment was instated with a focus on the patient's quality of life. Myeloid sarcoma (chloroma; granulocytic sarcoma) is a mass of myeloblasts occurring in cases of myeloid disease. Manifestations in most organ systems have been described. Presentation in gynecologic areas is reported in a few case reports, to which we now add our experience.

Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age.

PURPOSE: To assess cost-effectiveness of routine screening for Lynch Syndrome (LS) in endometrial cancer (EC) patients ≤70years of age. METHODS: Consecutive EC patients ≤70years of age were screened for LS by analysis of microsatellite instability, immunohistochemistry and MLH1 hypermethylation. Costs and health benefit in life years gained (LYG) included surveillance for LS carriers among EC patients and relatives. We calculated incremental cost-effectiveness ratios (ICERs) comparing LS screening among EC patients ≤70years with ≤50years and the revised Bethesda guidelines. RESULTS: Screening for LS in 179 EC patients identified 7 LS carriers; 1 was ≤50 and 6 were 51-70years. Per age category 18 and 9 relatives were identified as LS carrier. Screening resulted in 74,7 LYG (45,4 and 29,3 LYG per age category). The ICER for LS screening in EC patients ≤70 compared with ≤50years was €5,252/LYG. The revised Bethesda guidelines missed 4/7 (57%) LS carriers among EC patients. The ICER for LS screening in EC patients ≤70years of age compared with the revised Bethesda guidelines was €6,668/LYG. Both ICERs remained <€16,000/LYG in sensitivity analyses. CONCLUSION: Routine LS screening in EC patients ≤70years is a cost-effective strategy, allowing colorectal cancer prevention in EC patients and their relatives.

Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years.

OBJECTIVE: Lynch syndrome (LS) is a hereditary syndrome that predisposes to multiple malignancies including endometrial cancer (EC). We aimed to evaluate a diagnostic strategy for LS based on routine analysis of microsatellite instability (MSI) and immunohistochemical (IHC) staining for mismatch repair (MMR) proteins in tumour tissue of all newly diagnosed EC patients ≤ 70 years. METHODS: Consecutive EC patients ≤ 70 years were included prospectively in eight Dutch centres. EC specimens were analysed for MSI, IHC of four MMR proteins, MMR gene methylation status and BRAF-mutations. tumours were classified as; 1) likely to be caused by LS, 2) sporadic MSI-H, or 3) microsatellite stable (MSS). RESULTS: Tumour specimens of 179 patients (median age 61 years, IQR 57-66) were analysed. In our study 92% of included patients were over 50 years of age. Eleven EC patients were found likely to have LS (6%; 95% CI 3-11%), including 1 patient suspected of an MLH1, 2 of an MSH2, 6 of an MSH6 and 2 of a PMS2 gene defect. Germline mutation analyses revealed 7 MMR gene germline mutations. Ten patients likely to have LS (92%) were older than 50 years. In addition, 31 sporadic MSI-H tumours with MLH1 promoter hypermethylation (17%; 95% CI 13-24%) were identified. CONCLUSIONS: Molecular screening for LS in patients with EC diagnosed ≤ 70 years, leads to identification of a profile likely to have LS in 6% of cases. New screening guidelines for LS are needed, including recommendations for EC patients older than 50 years of age.

[Focal liver lesion after normal pregnancy]. / Een focale leverafwijking na een normaal verlopen zwangerschap.

Two months after a normal pregnancy, a 27-year-old woman presented with a focal liver lesion, which was first interpreted on CT as 'multiple liver cell adenomas'. 2 months later, it turned out to be a metastasis of a choriocarcinoma. This rare neoplasm will often be omitted from the differential diagnosis of liver lesions found during or after pregnancy. However, it is important not to miss this diagnosis since choriocarcinoma metastasis can be successfully treated. Therefore, it is advisable when focal liver lesions are found in women of child-bearing age also to measure human chorionic gonadotropin (hCG) serum concentration.

Cervical cancer in 2 women with a Mirena(R)-pitfalls in the assessment of irregular bleeding: a case series.

INTRODUCTION: The levonorgestrel-releasing intra-uterine device (Mirena(R)) is an effective, long term form of contraception that leads to a significant reduction of menstrual bleeding among majority of women. However, irregular bleeding is quite common in initial Mirena(R) users and may thereby mask underlying cervical pathology. CASE PRESENTATION: Two women with cervical cancer and a Mirena(R) initially presented with irregular bleeding, posing a diagnostic pitfall which resulted in doctor and patient delay. CONCLUSION: Proper evaluation of irregular vaginal bleeding, including cervical cytology, should be a prerequisite among all women opting for a Mirena(R) and must be repeated in case of persisting symptoms.

Lymphoepithelioma-like carcinoma of the uterine cervix: absence of Epstein-Barr virus, but presence of a multiple human papillomavirus infection.

BACKGROUND: Cervical lymphoepithelioma-like carcinoma (LELC) is a rare variant of squamous cell carcinoma of the cervix. Association with Epstein-Barr virus (EBV) is still controversial. EBV has been demonstrated in Asian women with cervical LELC. In Western women, human papillomavirus (HPV) might play a role in the etiology. CASE: We describe a 44-year-old Caucasian woman with a lymphoepithelioma-like carcinoma of the cervix without EBV, but in the presence of multiple HPV infection. CONCLUSION: Our case supports a possible different pathway of development of cervical LELC in Western women as compared to Asian women.