Doplnkový text. 7. Bioptický deň, Bratislava, SDIAP prípad č.663. Peter Vereš, Medicyt s.r.o. Bratislava
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1 Doplnkový text 7. Bioptický deň, Bratislava, SDIAP prípad č.663 Peter Vereš, Medicyt s.r.o. Bratislava
2 Klinický nález a makropopis bioptického preparátu 41- ročný muž s tumorom pravej obličky. Pravostranná nefrektómia. Makropopis operačného materiálu: Narezaná oblička veľ. 20x16x13 cm, v tuk. tkanive prítomná nadoblička priemeru 3 cm, takmer celá oblička prerastená neostro ohraničeným tumorom veľkosti 8x9 cm, sivohnedý, na reze výrazne nekrotický, zachovaný úzky lem tkaniva obličky hrúbky 1-3 cm, hilus sa nedá identifikovať, prerastený tumorom. Nadoblička na reze bez ložiskových zmien.
3 CT vyšetrenie
4 CT vyšetrenie
5 SDIAP prípad č.663 HE 100x
6 SDIAP prípad č.663 HE 200x
7 SDIAP prípad č.663 HE 400x
8 SDIAP prípad č.663 Diagnóza???
9 Imunohistochemické vyšetrenia: Negatívne: CKAE1/3, CK7, CK19, EMA, vimentin, LCA, S100, desmin, chromogranina, synaptophysin, TTF-1, WT-1. Pozitívne: CD99, NSE, Ki67 30%.
10 CD99
11 Ki67
12 NSE
13 Genetické vyšetrenie z odd. lek. genetiky NOÚ, BA. Vo vzorke fixovaného tumorového tkaniva (FFPE) sme pomocou metódy FISH v 97% zaznamenali prestavbu génu EWSR 1(22q12), ktorá podporuje dg. Ewingov sarkóm/pnet V dôsledku nízkej kvality RNA vo vzorke je na molekulárnej úrovni nevýpovedný výsledok. Martin Čermák, Ing., Imrich Hikkel, RNDr.
14 Naša diagnóza Extraskeletálny Ewingov sarkóm/pnet pravej obličky
15 Ewingov sarkóm/pnet - Ewingov sarkóm (ES) a periférny primitívny neuroektodermálny tumor (PNET) zahŕňa určité spektrum neoplastických ochorení známych ako the Ewing sarcoma family of tumors (EFT), kde tiež patrí aj malígny malobunkový tumor hrudnej steny (Askin tumor) and atypický ES - Prvýkrát popísaný Jamesom Ewingom ( ) - EWS / ETS fúzia sa považuje za iniciátora proliferácie a tumor-genézy (Annu Rev Pathol 2012;7:145, Cancer Lett 2007;254:1) - Kosti pánve, femur, tibia, humerus - Mäkké tkanivá
16 Extraskeletálny Ewingov sarkóm/pnet - Zriedkavo sa vyskytujúci tumor mäkkých tkanív, morfologicky identický Ewingovmu sarkómu kosti, môže predstavovať extenziu kostného tumoru do mäkkých tkanív. - Obyčajne postihuje ľudí vo veku 30 rokov a menej, zriedkavo vo veku nad 56 rokov, častejšie mužské pohlavie - Mäkké tkanivá: nadobličky, cervix, pažerák, žlčník, srdce, obličky, mediastinum, vaječník, pankreas, prostata, testis. - Agresívny nádor s metastazovaním do pľúc a kostí.
17 Ewingov sarkóm/pnet Histologický obraz: Malé okrúhle alebo oválne bunky s chodobnou cytoplazmou obsahujúcou glykogén Peritheliomatózne obrazy Neuroepithelialne obrazy, rozety IHC pozit.: CD99, FLI1, NSE, vimentin (variabilne), keratiny (variabilne) IHC negat.: LCA, chromogranina, myogenin, MyoD1
18 Molekulárno/cytogenetické znaky - t(11;22)(q24;q12) fusion transcript by RT-PCR of FLI1- EWS genes - t(21;22)(q12q12) of ERG-EWS genes - t(7;22)(p22;q12) of ETV1-EWS genes - t(17;22)(q12;q12) of E1AF-EWS genes - t(2;22)(q33;q12) of FEV-EWS genes - t(4;22)(q31;q12) (Mod Pathol 2011;24:333)
19 Diferenciálna diagnostika - Lymfóm - Rabdomyoidný tumor (vimentin, keratíny, EMA) - Rabdomyosarkóm (vimentin, desmin, myogenin, MyoD1) - Neuroblastóm (vek, NSE, CD57, CD56, chromogranina, synaptophysin, ALK-1) - Small cell osteosarcoma (vimentin, CD99-) - Metastáza nádoru s malobunkovou morfológiou - Wilmsov tumor (blastem WT1+, desmin+)
20 Liečba a prognóza - Chirurgická - Chemoterapia - Radioterapia - Prognóza: vek pacienta (lepšia je v mladom veku), lokalizácie tumoru (končatiny versus panva), veľkosti tumoru (8 cm), prítomnosti metastáz (výrazne zhoršujú prognózu) - Pacient mal v čase diagnózy prítomné metastázy v pravých pľúcach a v mozgu. - Odpoveď na nasedenú liečbu bola nulová
21 Literatúra Enzinger and Weiss s Soft Tissue Tumors, sixth Edition WHO Classification of Tumours os Soft Tissue and Bone 4th Edition WHO Classification of Tumours of the Urinary System and Male Genital Organs Nephrourol Mon Jul 18;8(4):e ecollection 2016 Jul. Primary Renal Primitive Neuroectodermal Tumor/Ewing's Sarcoma Imaging and Pathologic Findings of a Patient with a Nine Year, Eight Month Disease Free Period: Case Report and Review of Literature. Zokalj I 1, Igrec J 1, Plesnar A 2. Pathol Oncol Res Jul;20(3): doi: /s Epub 2013 Nov 30. Clinicopathological and molecular spectrum of ewing sarcomas/pnets, including validation of EWSR1 rearrangement by conventional and array FISH technique in certain cases. Rekhi B 1, Vogel U, Basak R, Desai SB, Jambhekar NA.
22 Literatúra Primary Ewing's sarcoma/primitive neuroectodermal tumor of the kidney: a clinicopathologic and immunohistochemical analysis of 11 cases. Jimenez RE, Folpe AL, Lapham RL, Ro JY, O'Shea PA, Weiss SW, Amin MB. Am J Surg Pathol Mar;26(3): Indian J Pathol Microbiol Apr-Jun;57(2): doi: / Primary primitive neuroectodermal tumor of kidney: a rare case report with diagnostic challenge. Kakkar S, Gupta D 1, Kaur G, Rana V.
23 SD IAP prípad č.663. Ďakujem za pozornosť!
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