Diagnostische Molekularpathologie bei lymphatischen und myeloischen Neoplasien

Langerak AW, Groenen PJ, Bruggemann M, Beldjord K, Bellan C, Bonello L, Boone E, Carter GI, Catherwood M, Davi F, Delfau-Larue MH, Diss T, Evans PA, Gameiro P, Garcia SR, Gonzalez D, Grand D, Hakansson A, Hummel M, Liu H, Lombardia L, Macintyre EA, Milner BJ, Montes-Moreno S, Schuuring E et al (2012) EuroClonality/BIOMED-2 guidelines for interpretation and reporting of Ig/TCR clonality testing in suspected lymphoproliferations. Leukemia 26(10):2159–2171

Oschlies I, Klapper W (2014) Malignant lymphomas in children and adolescents. Practical knowledge for diagnosis. Pathologe 35(4):383–395

Tiacci E, Trifonov V, Schiavoni G, Holmes A, Kern W, Martelli MP, Pucciarini A, Bigerna B, Pacini R, Wells VA, Sportoletti P, Pettirossi V, Mannucci R, Elliott O, Liso A, Ambrosetti A, Pulsoni A, Forconi F, Trentin L, Semenzato G, Inghirami G, Capponi M, Di RF, Patti C, Arcaini L et al (2011) BRAF mutations in hairy-cell leukemia. N Engl J Med 364(24):2305–2315

Andrulis M, Lehners N, Capper D, Penzel R, Heining C, Huellein J, Zenz T, Von DA, Schirmacher P, Ho AD, Goldschmidt H, Neben K, Raab MS (2013) Targeting the BRAF V600E mutation in multiple myeloma. Cancer Discov 3(8):862–869

Schnittger S, Bacher U, Haferlach T, Wendland N, Ulke M, Dicker F, Grossmann V, Haferlach C, Kern W (2012) Development and validation of a real-time quantification assay to detect and monitor BRAFV600E mutations in hairy cell leukemia. Blood 119(13):3151–3154

Haroche J, Charlotte F, Arnaud L, Von DA, Helias-Rodzewicz Z, Hervier B, Cohen-Aubart F, Launay D, Lesot A, Mokhtari K, Canioni D, Galmiche L, Rose C, Schmalzing M, Croockewit S, Kambouchner M, Copin MC, Fraitag S, Sahm F, Brousse N, Amoura Z, Donadieu J, Emile JF (2012) High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood 120(13):2700-2703

Badalian-Very G, Vergilio JA, Degar BA, MacConaill LE, Brandner B, Calicchio ML, Kuo FC, Ligon AH, Stevenson KE, Kehoe SM, Garraway LA, Hahn WC, Meyerson M, Fleming MD, Rollins BJ (2010) Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 116(11):1919–1923

Treon SP, Xu L, Yang G, Zhou Y, Liu X, Cao Y, Sheehy P, Manning RJ, Patterson CJ, Tripsas C, Arcaini L, Pinkus GS, Rodig SJ, Sohani AR, Harris NL, Laramie JM, Skifter DA, Lincoln SE, Hunter ZR (2012) MYD88 L265P somatic mutation in Waldenstrom’s macroglobulinemia. N Engl J Med 367(9):826–833

Jimenez C, Sebastian E, Chillon MC, Giraldo P, Mariano HJ, Escalante F, Gonzalez-Lopez TJ, Aguilera C, de Coca AG, Murillo I, Alcoceba M, Balanzategui A, Sarasquete ME, Corral R, Marin LA, Paiva B, Ocio EM, Gutierrez NC, Gonzalez M, San Miguel JF, Garcia-Sanz R (2013) MYD88 L265P is a marker highly characteristic of, but not restricted to, Waldenstrom’s macroglobulinemia. Leukemia 27(8):1722–1728

Varettoni M, Arcaini L, Zibellini S, Boveri E, Rattotti S, Riboni R, Corso A, Orlandi E, Bonfichi M, Gotti M, Pascutto C, Mangiacavalli S, Croci G, Fiaccadori V, Morello L, Guerrera ML, Paulli M, Cazzola M (2013) Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom’s macroglobulinemia and related lymphoid neoplasms. Blood 121(13):2522–2528

Poulain S, Roumier C, Decambron A, Renneville A, Herbaux C, Bertrand E, Tricot S, Daudignon A, Galiegue-Zouitina S, Soenen V, Theisen O, Grardel N, Nibourel O, Roche-Lestienne C, Quesnel B, Duthilleul P, Preudhomme C, Leleu X (2013) MYD88 L265P mutation in Waldenstrom macroglobulinemia. Blood 121(22):4504–4511

Hamadeh F, MacNamara SP, Aguilera NS, Swerdlow SH, Cook JR (2014) MYD88 L265P mutation analysis helps define nodal lymphoplasmacytic lymphoma. Mod Pathol. doi:10.1038/modpathol.2014.120 (Stand 9.3.15)

Randen U, Troen G, Tierens A, Steen C, Warsame A, Beiske K, Tjonnfjord GE, Berentsen S, Delabie J (2014) Primary cold agglutinin-associated lymphoproliferative disease: a B-cell lymphoma of the bone marrow distinct from lymphoplasmacytic lymphoma. Haematologica 99(3):497–504

Koskela HL, Eldfors S, Ellonen P, van Adrichem AJ, Kuusanmaki H, Andersson EI, Lagstrom S, Clemente MJ, Olson T, Jalkanen SE, Majumder MM, Almusa H, Edgren H, Lepisto M, Mattila P, Guinta K, Koistinen P, Kuittinen T, Penttinen K, Parsons A, Knowles J, Saarela J, Wennerberg K, Kallioniemi O, Porkka K et al (2012) Somatic STAT3 mutations in large granular lymphocytic leukemia. N Engl J Med 366(20):1905–1913

Smith D, Yong K (2013) Multiple myeloma. BMJ 346:f3863

Swerdlow SH, Campo E, Harris N, Jaffe E, Pileri S, Stein H, Thiele J, Vardiman JW (2008) WHO classification of tumors of the haematopoietic and lymphoid tissues. IARC, Lyon

Hussein K, Busche G, Schlue J, Lehmann U, Kreipe H (2012) Myeloproliferative neoplasms: histopathological and molecular pathological diagnosis. Pathologe 33(6):508–517

Tefferi A (2014) Primary myelofibrosis: 2014 update on diagnosis, risk-stratification, and management. Am J Hematol 89(9):915–925

Buhr T, Hebeda K, Kaloutsi V, Porwit A, Van der Walt J, Kreipe H (2012) European Bone Marrow Working Group trial on reproducibility of World Health Organization criteria to discriminate essential thrombocythemia from prefibrotic primary myelofibrosis. Haematologica 97(3):360–365

Hussein K, Bock O, Theophile K, von NN, Buhr T, Schlue J, Busche G, Kreipe H (2009) JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis. Exp Hematol 37(10):1186–1193

Lehmann U, Bartels S, Hasemeier B, Geffers R, Schlue J, Busche G, Hussein K, Kreipe H (2013) SRSF2 mutation is present in the hypercellular and prefibrotic stage of primary myelofibrosis. Blood 121(19):4011–4012

Lundberg P, Karow A, Nienhold R, Looser R, Hao-Shen H, Nissen I, Girsberger S, Lehmann T, Passweg J, Stern M, Beisel C, Kralovics R, Skoda RC (2014) Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms. Blood 123(14):2220–2228

Patnaik MM, Parikh SA, Hanson CA, Tefferi A (2014) Chronic myelomonocytic leukaemia: a concise clinical and pathophysiological review. Br J Haematol 165(3):273–286

Chang TY, Dvorak CC, Loh ML (2014) Bedside to bench in juvenile myelomonocytic leukemia: insights into leukemogenesis from a rare pediatric leukemia. Blood 124(16):2487–2497

Cazzola M, Della Porta MG, Malcovati L (2013) The genetic basis of myelodysplasia and its clinical relevance. Blood 122(25):4021–4034