Does obesity modify the expression of cyclin D1 and pten in endometrial polyps in postmenopausal women?

OBJECTIVE: To assess cyclin D1 and PTEN immunoexpression in benign endometrial polyps (EPs) in asymptomatic postmenopausal women and its correlation with obesity. Methods: This was a cross-sectional study based on data from a sample of 52 patients diagnosed with EP between February 2018 and January 2019. The women included in this study were amenorrheal for at least 1 year and were asymptomatic (no postmenopausal bleeding). Obesity defined by body mass index (BMI) was investigated for correlation with Cyclin-D1 and PTEN gene expression (immunohistochemistry) in glandular and stromal compartments of polyps. Results: No significant differences among groups were identified in any clinical and epidemiological parameter (age, age of menopause, time since menopause, number of gestations, polyp size, leucocyte count, fasting blood glucose and basic pathologies), except for BMI. Body mass index did not alter PTEN or Cyclin D1 immunoexpression. Conclusion: Our study shows that obesity does not appear to be a relevant factor in the immunoexpression of PTEN and Cyclin D1 in benign EP, in either the stromal or glandular compartments.

An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia.

BACKGROUND: Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, characterized by congenital malformations and progressive BMF. Patients with FA usually present chromosomal aberrations when evolving to MDS or acute myeloid leukemia (AML). Thus, the cytogenetic studies in the bone marrow (BM) of these patients have an important role in the therapeutic decision, mainly in the indication for hematopoietic stem cell transplantation (HSCT). The most frequent chromosomal alterations in the BM of FA patients are gains of the chromosomal regions 1q and 3q, and partial or complete loss of chromosome 7. However, the significance and the predictive value of such clonal alterations, with respect to malignant progress, are not fully understood and data from molecular cytogenetic studies are very limited. CASE PRESENTATION: A five-year-old boy presented recurrent infections and persistent anemia. The BM biopsy revealed hypocellularity. G-banding was performed on BM cells and showed a normal karyotype. The physical examination showed to be characteristic of FA, being the diagnosis confirmed by DEB test. Five years later, even with supportive treatment, the patient presented severe hypocellularity and BM evolution revealing megakaryocyte dysplasia, intense dyserythropoiesis, and 11% myeloblasts. G-banded analysis showed an abnormal karyotype involving a der(9)t(9;11)(p24;q?22). The FISH analysis showed the monoallelic loss of ATM and KMT2A genes. At this moment the diagnosis was MDS, refractory anemia with excess of blasts (RAEB). Allogeneic HSCT was indicated early in the diagnosis, but no donor was found. Decitabine treatment was initiated and well tolerated, although progression to AML occurred 3 months later. Chemotherapy induction was initiated, but there was no response. The patient died due to disease progression and infection complications. CONCLUSIONS: Molecular cytogenetic analysis showed a yet unreported der(9)t(9;11)(p24;q?22),der(11)t(9;11)(p24;q?22) during the evolution from FA to MDS/AML. The FISH technique was important allowing the identification at the molecular level of the monoallelic deletion involving the KMT2A and ATM genes. Our results suggest that this chromosomal alteration conferred a poor prognosis, being associated with a rapid leukemic transformation and a poor treatment response.