ECP 2022 Abstract Book

Virchows Archiv (2022) 481 (Suppl 1):S1–S364 13 E-PS-20-014 Hamartoma of mature cardiac myocytes: a case report H.G. Terzioglu*, D. Orhan, T. Karagoz, H.H. Aykan *Hacettepe University, Turkey Background & objectives: Hamartoma of mature cardiac myocytes is a rare and benign overgrowth of the mature cardiac myocytes and classified in the benign tumour-like lesions of the heart in the 2021 World Health Organization (WHO) Classification. Methods: We present a 6-year-old child who was found to have a pansystolic murmur during routine controls. On echocardiography, an ill-defined lesion involving the right ventricle and the inter- ventricular septum (IVS) was described. Cardiac MRI revealed a 68x54 mm sized, contrast enhanced solid mass, with hyperdense foci due to increased vascularity. An incisional biopsy was taken from the IVS. Results: On histopathological assessment of the formalin-fixed paraffin-embedded specimen, myocyte hypertrophy and disorgani- zation were noted. Nuclei of the myocytes were enlarged, hyper- chromatic and significantly bizarre. Sarcoplasmic vacuolization was present in some of the myocytes. Minimal fibrosis, chronic inflammation composed of lymphocytes, a prominent vascular pro- liferation and dilatation in venules were observed in the interstitial regions. Vascular proliferation was enhanced by using CD31 immu- nohistochemical stain. These findings suggested the diagnosis of hamartoma of mature cardiac myocytes and excision of the lesion was suggested. Conclusion: There are less than 30 patients in the literature with hamartoma of mature cardiac myocytes. There is no age predilection, but it tends to occur in children and younger adults. Most are asymptomatic and found incidentally. When symptomatic, patients describe chest pain and palpitations. Although these lesions are morphologically benign, they can have fatal results like arrythmias and functional hemodynamic obstruction. Fortunately, surgical excision is very effective, even when it is incomplete, in preventing these consequences. E-PS-20-015 VACTERL association: report of a case with additional con- genital malformations V. Almeida*, C. Courelas, C. Cerdeira, M. Ribeiro, A. Alves, R. Pina *Centro Hospitalar e Universitário, Portugal Background & objectives: The association of vertebral anomalies, anal atresia, cardiovascular malformations, tracheoesophageal fistula, and renal and limb anomalies is known by the acronym VACTERL. We will describe the autopsy finding of a VACTERL case with associated features not included in the definition. Methods: We report the autopsy findings of a foetus with VACTERL association, defined as the presence of at least three of the cardinal features. The autopsy followed medical abortion because of multiple malformations detected on routine first-tri- mester ultrasound. Results: The 18 weeks-old male foetus was the first pregnancy of healthy non-consanguineous parents. VACTERL diagnosis was based on the collective findings of scoliosis with lumbar hemiver- tebra, anal atresia, cardiac defects (subaortic CIV and absence of the left pulmonary artery), tracheoesophageal fistula with esopha- geal atresia, and left renal agenesis. Besides the diagnostic findings, we also identified other congenital malformations, such as left lung agenesis, intestinal malrotation, and a single umbilical artery. Craniofacial alterations such as upward slanting palpebral fissures, micrognathia, and low set ears were also present. Conclusion: When initially described, VACTERL did not include all cardinal features that now integrate the association. Report- ing cases is therefore helpful to clarify the prevalence of other associated malformations. Additionally, cases like ours reflect VACTERL´s clinical heterogeneity and could contribute to under- standing its pathogenesis. This case highlights the necessity of having specialized staff for the foetal autopsy capable of identifying and correlating the findings. Also, it shows the crucial role of Pathology in multidisciplinary teams responsible for managing prenatally diagnosed conditions. E-PS-20-016 The case of congenital ependymoma in a stillborn O. Sudareva*, E. Guryanova, S. Lezhenina, E. Ignatyeva, O. Kudryashova *Chuvash State University by I.N.Ulianov, Russia Background & objectives: Ependymomas are a group of neuroecto- dermal tumours that arise from a heterogeneous population of radial glial cells (RGCs) during embryonic brain development. Purpose of the study: to demonstrate a rare case of congenital ana- plastic ependymoma in a stillborn. Methods: For histological examination, the walls of the lateral ventricles (the area of the anterior, middle and posterior horn) and the area of the bottom of the 4th ventricle of the brain were taken. The micropreparation was made according to the hematoxylin and eosin, van Gieson method. Additionally, an immunohistochemical method was used with staining for neural markers . Results: Histologically, a brain tumour was detected, represented by elongated unipolar cells with monomorphic nuclei of a round-oval shape, with a clear pattern of chromatin in the form of small grains. Mitoses occurred in small numbers. The distribution of cells in the tumour tissue was uneven with the formation of characteristic perivas- cular rosettes (tumour cells were located At a distance from the vessels, there were parallel and chaotically located tumour cells, small cavities and tubules lined with ependymal tumour cells (“epithelial rosettes”) along the vessels of the microvasculature. Conclusion: Tumour of the central nervous system with localization in the IV and lateral ventricles of the brain (ICD/O - 9392/3: anaplas- tic ependymoma, grade - GIII. IHC study of tumour cells revealed a positive reaction to GFAP, S100 Protein, vimentin, part cells expressed pancytokeratin, and the reaction with EMA on tumour cells is weakly positive. The proliferative activity marker Ki-67 was expressed on 8-10% of tumour cells. Morphological verification of such tumours requires IHC studies to identify the neural immunophenotype and molecular genetics. E-PS-20-017 Autopsic case of infantile arterial generalized (IAC) calcifica- tion in a newborn O. Sudareva*, E. Ignatyeva, S. Lezhenina, A. Grigoryeva, E. Guryanova *Chuvash State University by I.N.Ulianov, Russia Background & objectives: We present an observation of an autopsy case of IAC caused by a genetic mutation. In a retrospective study of 1000 protocols of pathoanatomical examination of a child’s profile, we identified 3 cases of generalized infantile arterial calcification. S326