An incidental finding of pheochromocytoma in a 33-year-old patient with Lynch syndrome.

Pheochromocytoma is a catecholamine-producing neuroendocrine tumor arising from chromaffin cells of the adrenal medulla. The detection of these tumors is extremely important because they are associated with high cardiovascular morbidity and mortality. Progress in molecular genetics has revealed that up to 35% of pheochromocytomas are inhereted. Lynch syndrome (hereditary nonpolypous colorectal cancer - HNPCC) is an autosomal dominant genetic condition that is associated with a high risk of colorectal cancer or other extracolonic tumors (adenocarcinoma of endometrium, stomach, ovarian carcinoma, carcinoma of urinary tract, small intestine, brain tumors and skin cancer). Foreign medical journals are reporting an increasing number of cases on coexistence of HNPCC and neuroendocrine tumors, including pheochromocytoma. It increases the likelihood that this type of tumor could represent an additional extracolonic manifestation of Lynch syndrome.

[Molecular pathology of endometrial carcinoma - a review]. / Molekulová patológia endometriálneho karcinómu - prehlad.

Endometrial carcinoma (EC) is the most common malignancy of the female genital tract in developed countries. According to its histomorphologic characteristics EC is divided into endometroid and serous carcinoma; among less common subtypes there are clear cell, mucinous, neuroendocrine and undifferentiated carcinoma and carcinosarcoma. Endometroid and serous EC were essential for the so-called dual classification of EC (type I and type II), which considered mainly epidemiological, clinical and endocrine characteristics. It was shown that part of the high-grade serous carcinomas (type II) can develop from the endometroid EC by a multiplication of genomic changes and there are also EC, in which both basic types are overlapping. Today it is known that clinical and histological presentation of the EC reflects the genetic and epigenetic alterations affecting mainly PTEN, PIK3CA, KRAS, CTNNB1 and TP53 genes, or leading to microsatellite instability. However, these changes are variably present in both types of EC; therefore dual division of EC has appeared very rigid. The novel classifications should represent an integrated system which also incorporates the results of the gene expression analyses and multiparallel DNA sequencing. Based on these findings EC were divided into four molecular categories: a) POLE/ultra mutated; b) hyper mutated microsatellite instable; c) "copy number low" d) "copy number high" serous-like carcinoma. This division better reflects the biological characteristics of each EC and represents a base for the individual therapy.