XIX. Martinský bioptický seminár
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1 Cytologické a bioptické laboratórium XIX. Martinský bioptický seminár Lúčky október 2013 Peter Bohuš
2 40-ročná gynekologická pacientka Predmet vyšetrenia Stena retroperitoneálnej cysty Myomatózny uzol.
3 MAKROSKOPICKÝ OBRAZ CYSTA Material blanitého charakteru veľkosti do cca 7 cm, so sivastou hladkou výstelkou a stenou miestami mierne zhrubnutou MYOMATÓZNY UZOL Natrhnutý uzlovitý material veľkosti cca 3,8 x 2,5 x 2,1 cm, zväčša hladkého povrchu, na reze sivohnedej farby, solídny, tuhší. Preparáty na seminár sú zhotovené z druhého materiálu myomatózneho uzla.
4
5
6
7
8
9 AE1/AE3
10 SMA
11 desmin
12 SMMS - myosin
13 H-caldesmon
14 PR ER
15 HMB45
16 HMB45
17 HMB45
18 HMB45
19 Melan A
20 CD117 CD34
21 CD31
22 D2-40
23 D2-40
24 D2-40
25 Beta-catenin
26 p16
27
28 LYMPHANGIOLEIOMYOMA / LYMPHANGIOMEIOMYOMATOSIS (LAM)
29 Zhrnutie / Záver patológa V klinicko-patologickej korelácii sa jedná o extrapulmonárne lymphangioleiomyómy / lymphangioleiomyomatózu (LAM) situované v malej panve a v retroperitoneu. Doporučujeme ďalšie vyšetrenia, najmä respiračného traktu.
30 DEFINÍCIA (extrapulmonárne LAM) WHO soft tissue LAM patrí do PEComa family (angiomyolipoma/aml, clear cell sugar tumour of the lung/ccst, LAM and a group of histologicaly and immunophenotypically similar tumours arising at variety of soft tissue and visceral sites ICD-O-codes PEComa 8714/0 Malignant PEComa 8714/3
31 DEFINÍCIA Miettinen LAM is a smooth muscle proliferation of the lymphatic vessels and lymph nodes related to angiomyolipomas
32 DEFINÍCIA Enzinger Soft tissue tumors LAM proliferation of PECs around lymphatics and lymph nodes of the mediastinum, retroperitoneum and pulmomary interstitium
33 DEFINÍCIA Clement, Young Uterine PEComas: in 15% of case evidence of tuberous sclerosis and/or lymphangioleiomyomatosis Lymphangioleiomyomatosis: some such patients have other stigmata of tuberous sclerosis
34 Lymphangioleiomyoma(tosis) / LAM Proliferácia smooth muscle-like ( hladkosvalovoidných ) bb LAM cells
35 LAM cells Fenotyp čiastočne závislý od mikroprostredia Potencionálne metastatické (+/- prítomné v krvi, seróznych tekutinách, moči) Pôvod Hypotetický pôvod v hladkej svalovine ciev Mikrochimérizmus (???) pôvodne bb./ DNA fetálneho pôvodu perzistujúce v tele matky
36 LAM cells IHC markery Sladkosvalové (SMA, SMMH, desmin) HMB45, +/- Melan A ER/PR Metaloproteinázy β-catenin (Am J Clin Pathol May;)
37 Lymphangioleiomyoma(tosis) / LAM Pulmonárna LAM Extrapulmonárna LAM (abdominálne tumory, postihnutie axiálnych LU) Kombinácia
38 Lymphangioleiomyoma(tosis) / LAM Formy asociované s tuberous sclerosis complex vzácne multisystémové genetické, autozomálne dominantné ochorenie (mozog, obličky, koža, oči, srdce, pľúca, axiálne LU) hamartoma-like tumory Mutácia génov TSC1, alebo TSC2, kódujúcich proteíny hamartín a tuberín Formy sporadické výskyt výhradne u žien zväčša v reprodukčnom veku Taktiež mutácia TSC1, alebo TSC2
39 strata heterozygosity TSC2 génu na 16. chromozóme pri sporadických LAM pri LAM asociovaných s tuberous sclerosis
40 Stena retroperitoneálnej cysty
41
42
43
44 CK7
45 ER PR
46 desmin
47 HMB45
48 D2-40
49 Beta-catenin
50 p16
51 p16
52 Stena retroperitoneálnej cysty? LAM retroperitoneálnej LU s mulleriánskou inklúziou; resp. endosalpingiózou...asi najskôr tak...
53 Int J Surg Pathol Apr;9(2): Association of lymphangioleiomyomatosis (LAM) with endosalpingiosis in the retroperitoneal lymph nodes: report of two cases Matsui K, Travis WD, Gonzalez R, Terzian JA, Rosai J, Moss J, Ferrans VJ. Pathology Section, National Heart, Lung and Blood Institute, Bldg. 10/2N240, National Institutes of Health, 10 Center Dr. MSC-1518, Bethesda, MD , USA.
54 APMIS Dec;115(12): doi: /j x. Retroperitoneal lymphangioleiomyomatosis associated with endosalpingiosis. Fukunaga M, Mistuda A, Shibuya K, Honda Y, Shimada N, Koike J, Sugimoto M. Department of Pathology, Jikei University School, Tokyo, Japan.
55 TERAPIA Chirurgia Inhibítory m-tor Inhibítory VEGF Antiestrogénna th
56 Pôvod LAM cells / PEC cells Možný pôvod z neurálnej lišty (neural crest) vysoká migračná schopnosť progenitorových bb neurálnej trubice počas embryonálneho vývoja Mol Med Mar-Apr;13(3-4): Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells? Lim SD, Stallcup W, Lefkove B, Govindarajan B, Au KS, Northrup H, Lang D, Fisher DE, Patel A, Amin MB, Arbiser JL. Department of Urology, Emory University School of Medicine, and Atlanta VA Medical Center, Georgia 30322, USA.
57 Pôvod LAM cells / PEC cells Možný zdroj primárneho tumoru... 1.) UTERUS (?) vysoká prevalencia uterínnych PECómov pri S- LAM aj pri TSC-LAM 2.) AML obličky (?) 3.) Lymfatický systém (?) pri pitve časté postihnutie ductus thoracicus; LAM bb v chylóznej tekutine zhluky obalené lymfatickými endotelovými bb
58 World J Surg Oncol Oct 19;2:35. Perivascular epithelioid cell tumor (PEComa) of the uterine cervix associated with intraabdominal "PEComatosis": A clinicopathological study with comparative genomic hybridization analysis. Fadare O, Parkash V, Yilmaz Y, Mariappan MR, Ma L, Hileeto D, Qumsiyeh MB, Hui P. Department of Pathology, Yale University School of Medicine, New Haven, CT, USA. oluwole.fadare@yale.edu
59 Int J Surg Pathol Oct;16(4): doi: / Epub 2008 May 21. Multifocal PEComa (PEComatosis) of the female genital tract associated with endometriosis, diffuse adenomyosis, and endometrial atypical hyperplasia. Froio E, Piana S, Cavazza A, Valli R, Abrate M, Gardini G. Department of Pathology, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. PS: pacientka s TSC
60 Int J Gynecol Pathol Mar;30(2): doi: /PGP.0b013e3181fa5a99. The morphologic spectrum of uterine PEC-cell associated tumors in a patient with tuberous sclerosis. Lim GS, Oliva E. Department of Pathology, National University Hospital, Singapore. PS: pacientka mala: 1. AML 2. Sclerosing PEComa 3. diffuse LAM
61 Int J Gynecol Pathol Jan;30(1):71-5. doi: /PGP.0b013e3181efe08d. Microscopic uterine lymphangioleiomyomatosis perivascular epithelioid cell neoplasm: a case report with the earliest manifestation of this enigmatic neoplasm. Clay MR, Gibson P, Lowell J, Cooper K. Department of Pathology at Fletcher Allen Health Care, University of Vermont, College of Medicine, Burlington, VT 05401, USA. Michael.clay@uvm.edu
62 3.diferenciačná línia J Histochem Cytochem Aug;61(8): doi: / Epub 2013 Apr 22. Lymphatic endothelial differentiation in pulmonary lymphangioleiomyomatosis cells. Davis JM, Hyjek E, Husain AN, Shen L, Jones J, Schuger LA. Department of Pathology, Biological Sciences Division, University of Chicago, Chicago, Illinois 60637, USA. PS: LAM cells: D2-40+ (12/12); PROX1, LYVE1, VEGFR3... immunoreactivity varied from scarce to abundant lymphatic endothelial differentiation is a feature of LAM and provide evidence of a previously unidentified third lineage of differentiation (!)
63 3.diferenciačná línia (?) PEComa - všeobecne Myo-melanocytic tumor LAM Myo-melano-lympho... tumor
64 Follow up Viac ako po roku Telefonát obvodnému gynekológovi Bez respiračných problémov Bez iného nálezu
65
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