Marina Kos

Wegener's granulomatosis of the breast

ZusammenfassungDie Wegenersche Granulomatose ist eine Multisystem-Erkrankung, die durch eine nekrotisierende granulomatöse Entzündung und Vaskulitis der kleinen Gefäße, die alle Organsysteme befallen kann, gekennzeichnet ist. Die häufigsten Lokalisationen sind der obere und der untere Respirationstrakt, sowie die Nieren. Der Befall der Brust ist ungewöhnlich und äußerst selten. Wir berichten über eine 32-jährige Patientin, die sich mit pulmonalen Läsionen und tastbaren Tumoren in der linken Brust präsentierte. Die Mammographie zeigte multiple, scharf begrenzte Knoten ohne Mikrokalzifikationen. Die Echographie ergab multiple solide Läsionen mit herabgesetzter Echogenität, wobei manche davon zentrale Nekrosen aufwiesen. Die Computertomographie zeigte multiple Knoten. Die Histologie der biopsierten Läsionen der linken Mamma zeigten nekrotisierendes granulomatöses Material, das mit der Diagnose einer Wegenerschen Granulomatose kompatibel war. In der Literatur fanden wir 20 Berichte über Fälle mit Brustbefall bei Morbus Wegener. Die entsprechende ultrasonographische und computertomographische Bildgebung wurde allerdings bis jetzt noch nie berichtet.SummaryWegeners granulomatosis is a multisystem disorder characterized by necrotizing granulomatous inflammation and vasculitis of small vessels and can affect any organ system. The most common sites of involvement are upper and lower respiratory tracts, and kidneys. Breast involvement is unusual and very rare. We report a case of breast Wegeners granulomatosis in a 32-year-old woman who presented with pulmonary lesions and palpable masses in the left breast. Mammography showed multiple, sharply delineated nodules without microcalcifications. Ultrasonography revealed multiple hypoechoic solid lesions, some of them with anechoic areas of necrosis. Computed tomography showed multiple nodules. Histopathology of excision biopsy specimens of breast lesions revealed necrotizing granulomatous material consistent with Wegeners granulomatosis. Twenty reports of breast involvement in this rare disease were found in the literature; however, the respective ultrasonographic and computed tomography findings have not hitherto been described.

Congenital Juvenile Granulosa Cell Tumor of the Testis in a Fetus Showing Full 69,XXY Triploidy

Testicular juvenile granulosa cell tumor (TJGCT) occurs predominantly in infancy and may be associated with sex chromosomal abnormalities. We report a fetus aborted because of cytogenetically confirmed complete XXY triploidy. External genitalia of the fetus were female, with a short and patent vagina. The tumor presented as an abdominal multicystic mass with typical histologic and immunohistological features of JGCT. It was connected with a tubular uterus-like structure. The other gonad was an inguinally localized testis that showed histologically a Sertoli cell adenoma. Malformations typical for triploidy were also present: agenesis of the corpus callosum, stenosis of the pulmonary ostium, and hypoplasia of the lungs and adrenals. To our knowledge this is the first case of TJGCT in a triploid fetus.

Ultrasonic markers of fetal chromosomal abnormalities

OBJECTIVE The aim of this brief investigation was to correlate the most common sonographically detectable markers with certain type of chromosomal disorder diagnosed by available karyotyping procedures. STUDY DESIGN During the 3 year study period fetal karyotyping was performed in 1055 patients for a variety of clinical indication. Twenty one percent (21%; 222/1055) of procedures were done because of sonographically detectable structural disorders related to phenotype expression of chromosomopathies. Sonographic examinations and karyotyping procedures were performed between the 10th and 36th week. The average maternal age was 27 years, unselected. RESULTS The fetal karyotype was abnormal in 13.5% of cases (30/222). Within the group of single marker, 11.6% (7/60) of karyotypes were abnormal. Multiple markers of chromosomal abnormalities resulted in 14.2% (23/162) of abnormal karyotypes. The most frequent chromosomal disorder detected in sonographic screening is trisomy 18 (50%; 15/30). The data on the frequency of different types of chromosomal abnormalities are given. CONCLUSIONS The incidence of chromosomal abnormalities for ultrasonographically detectable malformations is much higher than the incidence reported in screening studies based on maternal age or biochemical screening. Trisomy 21 showed the relative lack of variety in phenotypic expression, and nuchal translucency screening has to be accepted rationally. Associated numerous major and minor malformations were the most prominent factors leading to the diagnosis of chromosomopathies, particularly trisomy 18.

Cystic fibroepithelioma of Pinkus: two new cases and cystic changes in classical fibroepithelioma of Pinkus

We report two new cases of cystic fibroepithelioma of Pinkus together with immunohistochemical features and analyze the presence of cystic changes in a series of 16 classical fibroepitheliomas of Pinkus. Our findings show that the formation of cystic spaces is most probably caused by ischemic degeneration of stromal fenestrations, rather than by central tumor cell necrosis. This finding is supported by lack of CD34 positive blood vessels in edematous and hyalinized stromal fenestrations undergoing transformation into cystic spaces, as opposed to the uninvolved stromal fenestrations. Therefore, it is probably more accurate to refer to this process as pseudocystic stromal degeneration rather than true cyst formation. Also, two out of 16 classical Pinkus fibroepitheliomas exhibited focal pseudocystic changes in 50% and 10% of the tumor, respectively, demonstrating that this degenerative process can be found, rarely and focally, in classical cases as well.

The Fetal Human Testis

At our pathology department, all spontaneously aborted fetuses are routinely autopsied and analyzed. During fetal autopsy, the position of the testes is assessed and noted, and both testes are taken for routine histopathologic analysis. They are fixed in 10 % buffered formalin, embedded in paraffin and routinely processed, cut in 5-μm sections, and stained with hematoxylin and eosin (H&E). If the microscopic features are within the normal limits for gestational age, the microscopic appearance is not described in detail in the autopsy report. If there is any deviation from the appearance expected for gestational age, it is described in detail. Although immunohistochemical (IHC) analysis is not done routinely, for the purpose of this chapter and for a better understanding of fetal development, certain markers were used (see the figures).