dr hab. n. med. Mariola Peczkowska

Publickacje naukowe

• 1: Michałowska I, Ćwikła JB, Pęczkowska M, Furmanek MI, Buscombe JR, Michalski W, Prejbisz A, Szperl M, Malinoc A, Moczulski D, Szutkowski Z, Kawecki A, Antoniewicz J, Pęczkowski P, Lewczuk A, Otto M, Cichocki A, Bednarek-Tupikowska G, Kabat M, Janaszek-Sitkowska H, Przybyłowska K, Janas J, Neumann HP, Januszewicz A. Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and (123)I-mIBG Scintigraphy in Patients with SDHx Genes Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography. Neuroendocrinology. 2015 Mar 13. [Epub ahead of print] PubMed PMID: 25791839.
• 2: von Dobschuetz E, Leijon H, Schalin-Jäntti C, Schiavi F, Brauckhoff M, Peczkowska M, Spiazzi G, Demattè S, Cecchini ME, Sartorato P, Krajewska J, Hasse-Lazar K, Roszkowska-Purska K, Taschin E, Malinoc A, Akslen LA, Arola J, Lange D, Fassina A, Pennelli G, Barbareschi M, Luettges J, Prejbisz A, Januszewicz A, Strate T, Bausch B, Castinetti F, Jarzab B, Opocher G, Eng C, Neumann HP. A registry-based study of thyroid paraganglioma: histological and genetic characteristics. Endocr Relat Cancer. 2015 Apr;22(2):191-204. doi: 10.1530/ERC-14-0558. Epub 2015 Jan 16. PubMed PMID: 25595276.
• 3: Sue M, Martucci V, Frey F, Lenders JM, Timmers HJ, Peczkowska M, Prejbisz A, Swantje B, Bornstein SR, Arlt W, Fassnacht M, Beuschlein F, Robledo M, Pacak K, Eisenhofer G. Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma. Eur J Endocrinol. 2015 Feb;172(2):89-95. PubMed PMID: 25371406.
• 4: Jóźwik-Plebanek K, Pęczkowska M, Klisiewicz A, Wrzesiński K, Prejbisz A, Niewada M, Kabat M, Szperl M, Eisenhofer G, Lenders JW, Januszewicz A. Pheochromocytoma presenting as takotsubo-like cardiomyopathy following delivery. Endocr Pract. 2014 Dec;20(12):e233-6. doi: 10.4158/EP13498.CR. PubMed PMID: 25148811.
• 5: Castinetti F, Qi XP, Walz MK, Maia AL, Sansó G, Peczkowska M, Hasse-Lazar K, Links TP, Dvorakova S, Toledo RA, Mian C, Bugalho MJ, Wohllk N, Kollyukh O, Canu L, Loli P, Bergmann SR, Biarnes Costa J, Makay O, Patocs A, Pfeifer M, Shah NS, Cuny T, Brauckhoff M, Bausch B, von Dobschuetz E, Letizia C, Barczynski M, Alevizaki MK, Czetwertynska M, Ugurlu MU, Valk G, Plukker JT, Sartorato P, Siqueira DR, Barontini M, Szperl M, Jarzab B, Verbeek HH, Zelinka T, Vlcek P, Toledo SP, Coutinho FL, Mannelli M, Recasens M, Demarquet L, Petramala L, Yaremchuk S, Zabolotnyi D, Schiavi F, Opocher G, Racz K, Januszewicz A, Weryha G, Henry JF, Brue T, Conte-Devolx B, Eng C, Neumann HP. Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study. Lancet Oncol. 2014 May;15(6):648-55. doi: 10.1016/S1470-2045(14)70154-8. Epub 2014 Apr 15. PubMed PMID: 24745698.
• 6: Bausch B, Wellner U, Bausch D, Schiavi F, Barontini M, Sanso G, Walz MK, Peczkowska M, Weryha G, Dall'igna P, Cecchetto G, Bisogno G, Moeller LC, Bockenhauer D, Patocs A, Rácz K, Zabolotnyi D, Yaremchuk S, Dzivite-Krisane I, Castinetti F, Taieb D, Malinoc A, von Dobschuetz E, Roessler J, Schmid KW, Opocher G, Eng C, Neumann HP. Long-term prognosis of patients with pediatric pheochromocytoma. Endocr Relat Cancer. 2013 Dec 16;21(1):17-25. doi: 10.1530/ERC-13-0415. Print 2014 Feb. PubMed PMID: 24169644.
• 7: Därr R, Pamporaki C, Peitzsch M, Miehle K, Prejbisz A, Peczkowska M, Weismann D, Beuschlein F, Sinnott R, Bornstein SR, Neumann HP, Januszewicz A, Lenders J, Eisenhofer G. Biochemical diagnosis of phaeochromocytoma using plasma-free normetanephrine, metanephrine and methoxytyramine: importance of supine sampling under fasting conditions. Clin Endocrinol (Oxf). 2014 Apr;80(4):478-86. doi: 10.1111/cen.12327. Epub 2013 Oct 17. PubMed PMID: 24102244.
• 8: Kołodziejczyk-Kruk S, Januszewicz W, Pęczkowska M, Prejbisz A, Zgliczyński W, Januszewicz A. Primary aldosteronism - recent progress and current concepts. Endokrynol Pol. 2013;64(4):312-8. PubMed PMID: 24002960.
• 9: Pęczkowska M, Kowalska A, Sygut J, Waligórski D, Malinoc A, Janaszek-Sitkowska H, Prejbisz A, Januszewicz A, Neumann HP. Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes. Clin Endocrinol (Oxf). 2013 Dec;79(6):817-23. doi: 10.1111/cen.12218. Epub 2013 May 3. PubMed PMID: 23551045.
• 10: Frank-Raue K, Rybicki LA, Erlic Z, Schweizer H, Winter A, Milos I, Toledo SP, Toledo RA, Tavares MR, Alevizaki M, Mian C, Siggelkow H, Hüfner M, Wohllk N, Opocher G, Dvořáková S, Bendlova B, Czetwertynska M, Skasko E, Barontini M, Sanso G, Vorländer C, Maia AL, Patocs A, Links TP, de Groot JW, Kerstens MN, Valk GD, Miehle K, Musholt TJ, Biarnes J, Damjanovic S, Muresan M, Wüster C, Fassnacht M, Peczkowska M, Fauth C, Golcher H, Walter MA, Pichl J, Raue F, Eng C, Neumann HP; International RET Exon 10 Consortium. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum Mutat. 2011 Jan;32(1):51-8. doi: 10.1002/humu.21385. PubMed PMID: 20979234.
• 11: Erlic Z, Ploeckinger U, Cascon A, Hoffmann MM, von Duecker L, Winter A, Kammel G, Bacher J, Sullivan M, Isermann B, Fischer L, Raffel A, Knoefel WT, Schott M, Baumann T, Schaefer O, Keck T, Baum RP, Milos I, Muresan M, Peczkowska M, Januszewicz A, Cupisti K, Tönjes A, Fasshauer M, Langrehr J, von Wussow P, Agaimy A, Schlimok G, Lamberts R, Wiech T, Schmid KW, Weber A, Nunez M, Robledo M, Eng C, Neumann HP; VHL-ICT Consortium; German NET Registry. Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. Endocr Relat Cancer. 2010 Oct 5;17(4):875-83. doi: 10.1677/ERC-10-0037. Print 2010 Dec. PubMed PMID: 20660572.
• 12: Krawczyk A, Hasse-Lazar K, Pawlaczek A, Szpak-Ulczok S, Krajewska J, Paliczka-Cieślak E, Jurecka-Lubieniecka B, Roskosz J, Chmielik E, Ziaja J, Cierpka L, Peczkowska M, Preibisz A, Januszewicz A, Otto M, Jarzab B. Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. Endokrynol Pol. 2010 Jan-Feb;61(1):43-8. PubMed PMID: 20205103.
• 13: Zieleń P, Klisiewicz A, Januszewicz A, Prejbisz A, Kabat M, Peczkowska M, Stepińska J, Hoffman P. Pheochromocytoma-related 'classic' takotsubo cardiomyopathy. J Hum Hypertens. 2010 May;24(5):363-6. doi: 10.1038/jhh.2009.115. Epub 2010 Feb 4. PubMed PMID: 20130596.
• 14: Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, Harsch I, Schott M, Gabbert HE, Valimäki M, Preuss SF, Hasse-Lazar K, Waligorski D, Robledo M, Januszewicz A, Eng C, Neumann HP. Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. J Clin Endocrinol Metab. 2010 Jan;95(1):308-13. doi: 10.1210/jc.2009-1728. Epub 2009 Nov 11. PubMed PMID: 19906784; PubMed Central PMCID: PMC2805484.
• 15: Erlic Z, Rybicki L, Peczkowska M, Golcher H, Kann PH, Brauckhoff M, Müssig K, Muresan M, Schäffler A, Reisch N, Schott M, Fassnacht M, Opocher G, Klose S, Fottner C, Forrer F, Plöckinger U, Petersenn S, Zabolotny D, Kollukch O, Yaremchuk S, Januszewicz A, Walz MK, Eng C, Neumann HP; European-American Pheochromocytoma Study Group. Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res. 2009 Oct 15;15(20):6378-85. doi: 10.1158/1078-0432.CCR-09-1237. Epub 2009 Oct 13. PubMed PMID: 19825962
• 16: Neumann HP, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, Hermsen M, Schiavi F, Falcioni M, Kwok P, Bauters C, Lampe K, Fischer M, Edelman E, Benn DE, Robinson BG, Wiegand S, Rasp G, Stuck BA, Hoffmann MM, Sullivan M, Sevilla MA, Weiss MM, Peczkowska M, Kubaszek A, Pigny P, Ward RL, Learoyd D, Croxson M, Zabolotny D, Yaremchuk S, Draf W, Muresan M, Lorenz RR, Knipping S, Strohm M, Dyckhoff G, Matthias C, Reisch N, Preuss SF, Esser D, Walter MA, Kaftan H, Stöver T, Fottner C, Gorgulla H, Malekpour M, Zarandy MM, Schipper J, Brase C, Glien A, Kühnemund M, Koscielny S, Schwerdtfeger P, Välimäki M, Szyfter W, Finckh U, Zerres K, Cascon A, Opocher G, Ridder GJ, Januszewicz A, Suarez C, Eng C. Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res. 2009 Apr 15;69(8):3650-6. doi: 10.1158/0008-5472.CAN-08-4057. Epub 2009 Apr 7. PubMed PMID: 19351833.
• 17: Peczkowska M, Erlic Z, Hoffmann MM, Furmanek M, Cwikla J, Kubaszek A, Prejbisz A, Szutkowski Z, Kawecki A, Chojnowski K, Lewczuk A, Litwin M, Szyfter W, Walter MA, Sullivan M, Eng C, Januszewicz A, Neumann HP. Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. J Clin Endocrinol Metab. 2008 Dec;93(12):4818-25. doi: 10.1210/jc.2008-1290. Epub 2008 Sep 30. PubMed PMID: 18826997; PubMed Central PMCID: PMC2626452
• 18: Milos IN, Frank-Raue K, Wohllk N, Maia AL, Pusiol E, Patocs A, Robledo M, Biarnes J, Barontini M, Links TP, de Groot JW, Dvorakova S, Peczkowska M, Rybicki LA, Sullivan M, Raue F, Zosin I, Eng C, Neumann HP. Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation. Endocr Relat Cancer. 2008 Dec;15(4):1035-41. doi: 10.1677/ERC-08-0105. Epub 2008 Sep 15. PubMed PMID: 18794325.
• 19: Peczkowska M, Cascon A, Prejbisz A, Kubaszek A, Cwikła BJ, Furmanek M, Erlic Z, Eng C, Januszewicz A, Neumann HP. Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation. Nat Clin Pract Endocrinol Metab. 2008 Feb;4(2):111-5. doi: 10.1038/ncpendmet0726. PubMed PMID: 18212813.
• 20: Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg-Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pfäffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C, Neumann HP; European-American Phaeochromocytoma Registry Study Group. Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab. 2007 Jul;92(7):2784-92. Epub 2007 Apr 10. PubMed PMID: 17426081.
• 21: Reisch N, Peczkowska M, Januszewicz A, Neumann HP. Pheochromocytoma: presentation, diagnosis and treatment. J Hypertens. 2006 Dec;24(12):2331-9. Review. PubMed PMID: 17082709.
• 22: Schiavi F, Boedeker CC, Bausch B, Peçzkowska M, Gomez CF, Strassburg T, Pawlu C, Buchta M, Salzmann M, Hoffmann MM, Berlis A, Brink I, Cybulla M, Muresan M, Walter MA, Forrer F, Välimäki M, Kawecki A, Szutkowski Z, Schipper J, Walz MK, Pigny P, Bauters C, Willet-Brozick JE, Baysal BE, Januszewicz A, Eng C, Opocher G, Neumann HP; European-American Paraganglioma Study Group. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA. 2005 Oct 26;294(16):2057-63. Erratum in: JAMA. 2006 Feb 8;295(6):628. PubMed PMID: 16249420.
• 23: Peczkowska M, Januszewicz A. Multiple endocrine neoplasia type 2. Fam Cancer. 2005;4(1):25-36. Review. PubMed PMID: 15883707.
• 24: Peczkowska M, Januszewicz A, Grzeszczak W, Moczulski D, Janaszek-Sitkowska H, Kabat M, Biederman A, Hendzel P, Prejbisz A, Cendrowska-Demkow I, Zieliński T, Januszewicz M. The coexistence of acute aortic dissection with autosomal dominant polycystic kidney disease--description of two hypertensive patients. Blood Press. 2004;13(5):283-6. PubMed PMID: 15545151.
• 25: Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C; European-American Paraganglioma Study Group. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA. 2004 Aug 25;292(8):943-51. Erratum in: JAMA. 2004 Oct 13;292(14):1686. PubMed PMID: 15328326.
• 26: Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peçzkowska M, Morrison CD, Lehtonen R, Januszewicz A, Järvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet. 2004 Jan;74(1):153-9. Epub 2003 Dec 18. PubMed PMID: 14685938; PubMed Central PMCID: PMC1181902.
• 27: McWhinney SR, Boru G, Binkley PK, Peczkowska M, Januszewicz AA, Neumann HP, Eng C. Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset. J Clin Endocrinol Metab. 2003 Oct;88(10):4911-6. PubMed PMID: 14557473.
• 28: Peczkowska M, Gessek J, Januszewicz A, Neumann HP, Januszewicz M, Janaszek-Sitkowska H, Prejbisz A, Kabat M, Skierski J, Cieśla W, Szostek M. Pheochromocytoma of the urinary bladder coexisting with another extra-adrenal tumour--case report of a 19-year-old male patient. Blood Press. 2002;11(2):101-5. PubMed PMID: 12035869.
• 29: Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peçzkowska M, Szmigielski C, Eng C; Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002 May 9;346(19):1459-66. PubMed PMID: 12000816.
• 30: Peczkowska M, Sznajderman M, Cybulska I, Kabat M, Kwiatkowska D. Multiple phaeochromocytoma with renal artery stenosis or occlusion: report of two cases. J Hum Hypertens. 1993 Jun;7(3):310-1. PubMed PMID: 8345502.