WHO classification of tumours of haematopoietic and lymphoid tissues

2017·75.7 MB·English

by  Swerdlow, Steven H. Herausgeber. edt

WHO Classification of Tumours of
Haematopoietic and Lymphoid Tissues
Steven H. Swerdlow, Elias Campo, Nancy Lee Harris, Elaine S. Jaffe, Stefano A. Pileri,
Harald Stein, Jurgen Thiele, Daniel A. Arber, Robert P. Hasserjian,
Michelle M. Le Beau, Attilio Orazi, Reiner Siebert
blasts
cMPO FITC
World Health Organization Classification of Tumours
LeBoit P.E., Burg G., Weedon D., Kurman R.J., Carcangiu M.L., El-Naggar A. K., Chan J.K.C.,
Sarasin A. (Eds): World Health Herrington C.S., Young R.H. (Eds): Gradis J. R., Takata T., Slootweg P. J.
Organization Classification of WHO Classification of Tumours (Eds): WHO Classification of Head
Tumours. Pathology and Genetics of Female Reproductive and Neck Tumours (4th edition).
of Skin Tumours (3rd edition). Organs (4th edition). lARC: Lyon 2014. lARC: Lyon 2017.
lARC Press: Lyon 2006. ISBN 978-92-832-2435-8 ISBN 978-92-832-2438-9
ISBN 978-92-832-2414-0
Bosman F.T., Carneiro F., Travis W. D., Brambilla E., Burke A. P., Lloyd R.V., Osamura R.Y., KIdppel G.,
Hruban R.H., Theise N.D. (Eds): Marx A., Nicholson A. G. (Eds): Rosai J. (Eds): WHO Classification of
WHO Classification of Tumours of WHO Classification of Tumours of Tumours of Endocrine Organs
the Digestive System (4th edition). the Lung, Pleura, Thymus and Heart (4th edition). lARC: Lyon 2017.
lARC: Lyon 2010. (4th edition). lARC: Lyon 2015. ISBN 978-92-832-4493-6
ISBN 978-92-832-2432-7 ISBN 978-92-832-2436-5
Lakhani S. R., Ellis I.O., Schnitt S. J., Moch H., Humphrey P. A., Swerdlow S. H., Campo E., Harris N. L.,
Tan P. H., van de Vijver M.J. (Eds): Ulbright T. M., Reuter V. E. (Eds): Jaffe E.S., Pileri S.A., Stein H.,
WHO Classification of Tumours of the WHO Classification of Tumours of the Thiele J. (Eds): WHO Classification of
Breast (4th edition). lARC: Lyon 2012. Urinary System and Male Genital Tumours of Haematopoietic and Lym¬
ISBN 978-92-832-2433-4 Organs (4th edition). lARC: Lyon 2016. phoid Tissues (Revised 4th edition).
ISBN 978-92-832-2437-2 lARC: Lyon 2017.
ISBN 978-92-832-4494-3
Fletcher C. D. M., Bridge J.A., Louis D. N., Ohgaki H., Wiestler O.D.,
Hogendoorn P.C.W., Mertens F. (Eds): Cavenee W. K. (Eds):
WHO Classification of Tumours WHO Classification of Tumours of
of Soft Tissue and Bone (4th edition). the Central Nervous System (Revised
lARC: Lyon 2013. 4th edition). lARC: Lyon 2016.
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Digitized by the Internet Archive
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https://archive.org/detaiis/whociassificatioOOswer
World Health Organization Ciassification of Tumours
International Agency for Research on Cancer (lARC)
Revised 4th Edition
WHO Classification of Tumours of
Haematopoietic and Lymphoid Tissues
Edited by
Steven H. Swerdlow
Eiias Campo
Nancy Lee Harris
Eiaine S. Jaffe
Stefano A. Piieri
Harald Stein
Jurgen Thiele
International Agency for Research on Cancer
Lyon, 2017
World Health Organization Classification of Tumours
Series Editors Fred T. Bosman, MD, PhD
Elaine S. Jaffe, MD
Sunil R. Lakhani, MD, FRCPath
Hiroko Ohgaki, PhD
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
Editors Steven H. Swerdlow, MD
Elias Campo, MD, PhD
Nancy Lee Harris, MD
Elaine S. Jaffe, MD
Stefano A. Pileri, MD, PhD
Harald Stein, MD
Jurgen Thiele, MD, PhD
Senior Advisors Daniel A. Arber, MD
Robert P. Hasserjian, MD
Michelle M. Le Beau, PhD
Attilio Orazi, MD
Reiner Siebert, MD
Project Coordinator Paul Kleihues, MD
Project Assistants Asiedua Asante
Anne-Sophie Hameau
Technical Editor Jessica Cox
Database Kees Kleihues-van Tol
Layout Markus Fessler
Printed by Maestro
38330 Saint-lsmier, France
Publisher International Agency for
Research on Cancer (lARC)
69372 Lyon Cedex 08, France

Published by the International Agency for Research on Cancer (lARC),
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Format for bibliographic citations:
Swerdlow SH, Campo E, Harris NL, Jaffa ES, Pileri SA, Stein H, Thiele J (Eds):
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (Revised 4th edition).
lARC: Lyon 2017
lARC Library Cataloguing in Publication Data
WHO classification of tumours of haematopoietic and lymphoid tissues / edited by Steven H. Swerdlow, Elias Campo,
Nancy Lee Harris, Elaine S. Jaffa, Stefano A. Pileri, Harald Stein, Jurgen Thiele. - Revised 4th edition.
(World Health Organization classification of tumours)
1. Hematologic Neoplasms - classification 2. Hematologic Neoplasms - genetics
3. Hematologic Neoplasms - pathology
I. Swerdlow, Steven H. II. Series
ISBN 978-92-832-4494-3 (NLM Classification: WH 525)
Contents
WHO classification of tumours of haematopoietic and 7 Myeloid neoplasms with germline predisposition 121
lymphoid tissues 10 Myeloid neoplasms with germline predisposition without a
pre-existing disorder or organ dysfunction 124
Introduction to the WHO classification of tumours of Acute myeloid leukaemia with germline
haematopoietic and lymphoid tissues 13 CESPA mutation 124
Myeloid neoplasms with germline DDX41 mutation 125
1 Introduction and overview of the classification of the Myeloid neoplasms with germline predisposition and
myeloid neoplasms 15 pre-existing platelet disorders 125
Myeloid neoplasms with germline RUNX1 mutation 125
2 Myeloproliferative neoplasms 29 Myeloid neoplasms with germline ANKRD26 mutation 125
Chronic myeloid leukaemia, SCfl-/\SL 1-positive 30 Myeloid neoplasms with germline ETV6 mutation 126
Chronic neutrophilic leukaemia 37 Myeloid neoplasms with germline predisposition
Polycythaemia vera 39 associated with other organ dysfunction 126
Primary myelofibrosis 44 Myeloid neoplasms with germline GAME mutation 126
Prefibrotic/early primary myelofibrosis 46 Myeloid neoplasms with germline predisposition associated
Overt primary myelofibrosis 48 with inherited bone failure syndromes and
Essential thrombocythaemia 50 telomere biology disorders 128
Chronic eosinophilic leukaemia, not otherwise specified 54
Myeloproliferative neoplasm, unclassifiable 57 8 Acute myeloid leukaemia and related precursor
neoplasms 129
3 Mastocytosis 61 Acute myeloid leukaemia with recurrent genetic
Cutaneous mastocytosis 65 abnormalities 130
Systemic mastocytosis 66 Introduction 130
Mast cell sarcoma 69 Acute myeloid leukaemia with t(8;21)(q22;q22.1);
RUNX1-RUNX1T1 130
4 Myeloid/lymphoid neoplasms with eosinophilia and Acute myeloid leukaemia with inv(16)(p13.1q22) or
gene rearrangement 71 t(16;16)(p13,1;q22); CBFB-MYH11 132
Myeloid/lymphoid neoplasms with PDGFRA rearrangement 73 Acute promyelocytic leukaemia with PML-RARA 134
Myeloid/lymphoid neoplasms with PDGFRB rearrangement 75 Acute myeloid leukaemia with t(9;11)(p21.3;q23.3);
Myeloid/lymphoid neoplasms with FGFR1 rearrangement 77 KMT2A-MLLT3 136
Myeloid/lymphoid neoplasms with PCM1-JAK2 78 Acute myeloid leukaemia with t(6;9)(p23;q34.1);
DEK-NUP214 137
5 Myelodysplastic/myeloprollferative neoplasms 81 Acute myeloid leukaemia with inv(3)(q21.3q26.2) or
Chronic myelomonocytic leukaemia 82 t(3i3)(q21.3;q26,2); GATA2, MECOM 138
Atypical chronic myeloid leukaemia, SC/P-ASL 1-negative 87 Acute myeloid leukaemia (megakaryoblastic) with
Juvenile myelomonocytic leukaemia 89 t(1;22)(p13.3;q13.1); RBM15-MKL1 139
Myelodysplastic/myeloproliferative neoplasm with ring Acute myeloid leukaemia with BCR-ABL1 140
sideroblasts and thrombocytosis 93 Acute myeloid leukaemia with gene mutations 141
Myelodysplastic/myeloproliferative neoplasm, unclassifiable 95 Acute myeloid leukaemia with mutated NPM1 141
Acute myeloid leukaemia with biallelic
6 Myelodysplastic syndromes 97 mutation of CESPA 142
Overview 98 Acute myeloid leukaemia with mutated RUNX1 144
Myelodysplastic syndrome with single lineage dysplasia 106 Acute myeloid leukaemia with myelodysplasia-related
Myelodysplastic syndrome with ring sideroblasts 109 changes 150
Myelodysplastic syndrome with multilineage dysplasia 111 Therapy-related myeloid neoplasms 153
Myelodysplastic syndrome with excess blasts 113 Acute myeloid leukaemia, not otherwise specified 156
Myelodysplastic syndrome with excess blasts and Acute myeloid leukaemia with minimal differentiation 156
erythroid predominance 114 Acute myeloid leukaemia without maturation 157
Myelodysplastic syndrome with excess blasts Acute myeloid leukaemia with maturation 158
and fibrosis 114 Acute myelomonocytic leukaemia 159
Myelodysplastic syndrome with isolated del(5q) 115 Acute monoblastic and monocytic leukaemia 160
Myelodysplastic syndrome, unclassifiable 116 Pure erythroid leukaemia 161
Childhood myelodysplastic syndrome 116 Acute megakaryoblastic leukaemia 162
Refractory cytopenia of childhood 117 Acute basophilic leukaemia 164
Acute panmyelosis with myelofibrosis 165
Myeloid sarcoma 167
Myeloid proliferations associated with Down syndrome 169 Heavy chain diseases 237
Transient abnormal myelopoiesis associated with Mu heavy chain disease 237
Down syndrome 169 Gamma heavy chain disease 238
Myeloid leukaemia associated with Down syndrome 170 Alpha heavy chain disease 240
Plasma cell neoplasms 241
9 Blastic plasmacytoid dendritic cell neoplasm 173 Non-IgM monoclonal gammopathy of undetermined
significance 241
10 Acute leukaemias of ambiguous lineage 179 Plasma cell myeloma 243
Acute undifferentiated leukaemia 182 Plasma cell myeloma variants 249
Mixed-phenotype acute leukaemia with Smouldering (asymptomatic) plasma cell myeloma 249
t(9;22)(q34.1;q11.2); BCR-ABL1 182 Non-secretory myeloma 250
Mixed-phenotype acute leukaemia with t(v;11q23.3); Plasma cell leukaemia 250
KMT2A-reanar\ged 183 Plasmacytoma 250
Mixed-phenotype acute leukaemia, B/myeloid, Solitary plasmacytoma of bone 250
not otherwise specified 184 Extraosseous plasmacytoma 251
Mixed-phenotype acute leukaemia, T/myeloid, Monoclonal immunoglobulin deposition diseases 254
not otherwise specified 185 Primary amyloidosis 254
Mixed-phenotype acute leukaemia, not otherwise specified, Light chain and heavy chain deposition diseases 255
rare types 186 Plasma cell neoplasms with associated
Acute leukaemias of ambiguous lineage, paraneoplastic syndrome 256
not otherwise specified 187 POEMS syndrome 256
TEMPI syndrome 257
11 Introduction and overview of the classification of the Extranodal marginal zone lymphoma of mucosa-associated
lymphoid neoplasms 189 lymphoid tissue (MALT lymphoma) 259
Nodal marginal zone lymphoma 263
12 Precursor lymphoid neoplasms 199 Paediatric nodal marginal zone lymphoma 264
B-lymphoblastic leukaemia/lymphoma, Follicular lymphoma 266
not otherwise specified 200 Testicular follicular lymphoma 268
B-lymphoblastic leukaemia/lymphoma with recurrent In situ follicular neoplasia 274
genetic abnormalities 203 Duodenal-type follicular lymphoma 276
B-lymphoblastic leukaemia/lymphoma with Paediatric-type follicular lymphoma 278
t(9;22)(q34.1;q11.2); BCR-ABL1 203 Large B-cell lymphoma with IRF4 rearrangement 280
B-lymphoblastic leukaemia/iymphoma with Primary cutaneous follicle centre lymphoma 282
t(v;11q23.3); K/VfT^A-rearranged 203 Mantle cell lymphoma 285
B-lymphoblastic leukaemia/iymphoma with Leukaemic non-nodal mantle cell lymphoma 290
t(12;21)(p13.2;q22.1); ETV&RUNX1 204 In situ mantle cell neoplasia 290
B-lymphoblastic leukaemia/iymphoma with hyperdiploidy 205 Diffuse large B-cell lymphoma (DLBCL), NOS 291
B-lymphoblastic leukaemia/iymphoma with hypodiploidy 206 T-cell/histiocyte-rich large B-cell lymphoma 298
B-lymphoblastic leukaemia/iymphoma with Primary diffuse large B-cell lymphoma of the CNS 300
t(5;14)(q31.1;q32.1); IGH//L3 206 Primary cutaneous diffuse large B-cell lymphoma, leg type 303
B-lymphoblastic leukaemia/iymphoma with EBV-positive diffuse large B-cell lymphoma, NOS 304
t(1;19)(q23;p13.3); TCF3-PBX1 207 EBV-positive mucocutaneous ulcer 307
B-lymphoblastic leukaemia/iymphoma, BCR-ABL1-\\ke 208 Diffuse large B-cell lymphoma associated with
B-lymphoblastic leukaemia/iymphoma with iAMP21 208 chronic inflammation 309
T-lymphoblastic leukaemia/iymphoma 209 Fibrin-associated diffuse large B-cell lymphoma 311
Early T-cell precursor lymphoblastic leukaemia 212 Lymphomatoid granulomatosis 312
NK-lymphoblastic leukaemia/iymphoma 213 Primary mediastinal (thymic) large B-cell lymphoma 314
Intravascular large B-cell lymphoma 317
13 Mature B-cell neoplasms 215 ALK-positive large B-cell lymphoma 319
Chronic lymphocytic leukaemia/ Plasmablastic lymphoma 321
small lymphocytic lymphoma 216 Primary effusion lymphoma 323
Monoclonal B-cell lymphocytosis 220 HHVS-associated lymphoproliferative disorders 325
B-cell prolymphocytic leukaemia 222 Multicentric Castleman disease 325
Splenic marginal zone lymphoma 223 HHV8-positive diffuse large B-cell lymphoma, NOS 327
Hairy cell leukaemia 226 HHV8-positive germinotropic lymphoproliferative disorder 328
Splenic B-cell lymphoma/leukaemia, unclassifiable 229 Burkitt lymphoma 330
Splenic diffuse red pulp small B-cell lymphoma 229 Burkitt-like lymphoma with 11 q aberration 334
Hairy cell leukaemia variant 230 High-grade B-cell lymphoma 335
Lymphoplasmacytic lymphoma 232 High-grade B-cell lymphoma with /W/Cand BCL2
IgM Monoclonal gammopathy of undetermined significance 236 and/or BCL6 rearrangements 335
High-grade B-cell lymphoma, NOS 340