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Bone marrow neoplastic

Authors: Nadine Aguilera, M.D., Raniah Al Amri, M.D., Zubaidah Al-Jumaili, M.D., Yazan Alhalaseh, M.D., Haley Amoth, M.D., Barina Aqil, M.D., Ahmed Samire Arfa, M.D., Jacob Armstrong, M.D., Aribah Atiq, M.B.B.S., Meenakshi Garg Bansal, M.D., Rose Beck, M.D., Ph.D., Puneet Bedi, M.D., W. Richard Burack, M.D., Ph.D., Marie Calaminici, M.D., Ph.D., Jui Choudhuri, M.D., Jessica Corean, M.D., Elizabeth Courville, M.D., Genevieve M. Crane, M.D., Ph.D., Ivan De La Riva-Morales, M.D., Courtney D. DiNardo, M.D., Arti Easwar, M.D., Mostafa Elhodaky, M.D., Ph.D., Julie Feldstein, M.D., Franklin Fuda, D.O., Ramya Gadde, M.D., Giby V. George, M.B.B.S., Sharon Koorse Germans, M.D., Julia T. Geyer, M.D., Mark Girton, M.D., Swati Gite, M.D., Benjamin Graham, M.D., Sean Gu, M.D., Ph.D., Rita Gupta, M.D., Srishti Gupta, M.B.B.S., M.D., Christopher S. Hale, M.D., Hans Magne Hamnvåg, M.D., Mowafak Hamodat, M.B.Ch.B., M.Sc., Zarrin Hossein-Zadeh, M.D., Morgan Hrones, M.D., S. David Hudnall, M.D., Nourhan Ibrahim, M.D., Giovanni Insuasti-Beltran, M.D., Natasha Iranzad, M.D., Jesse Manuel Jaso, M.D., Sarvenaz Karamooz, M.D, Kristin Karner, M.D., Hatem Kaseb, M.D., Ph.D., M.P.H., Pallavi Khattar, M.D., Joseph Khoury, M.D., Ameet R. Kini, M.D., Ph.D., Shajo Kunnath-Velayudhan, M.B.B.S., M.M.S.T., Jingwei Li, M.D., Ph.D., Huifei Liu, M.D., Ph.D., Yen-Chun Liu, M.D., Ph.D., Sanam Loghavi, M.D. , Brenda Mai, M.D., Sucheta Malik, M.B.B.S., Rashmi Manur, M.D., M.P.H., Etan Marks, D.O., Emily Mason, M.D., Ph.D., Daniela Mihova, M.D., Muhammad Khurram Minhas, M.B.B.S., Kamran M. Mirza, M.D., Ph.D., Angeli Mittal, M.D., William Patrick Morrow, M.D., Monika Nageshwar, M.B.B.S., M.D., Lynh Nguyen, M.D., Sara Niyazi, D.O., Oluwatobi "Tobi" Odetola, M.D., Nagehan Pakasticali, M.D., Raj Patel, M.D., Nat Pernick, M.D., Anamarija M. Perry, M.D., Maryam F. Raouf, M.D., Muhammad Raza, M.B.B.S., Alexander Reese, D.O., Hamzah Rehan, D.O., Jack Reid, M.D., Sherif A. Rezk, M.D., Daniel Rivera, M.D., Mark Russell, M.D., Karan Saluja, M.D., Valentina Sangiorgio, M.D., Nikhil Sangle, M.D., Jason R. Schwartz, M.D., Ph.D., Vignesh Shanmugam, M.D., Yang Shi, M.D., Ph.D., Alexa J. Siddon, M.D., Zeba N. Singh, M.B.B.S., M.D., Megan C. Smith, M.D., M.P.H., Madina Sukhanova, Ph.D., Narittee Sukswai, M.D., Lee Bentley Syler, M.D., Zhenya Tang, M.D., Ph.D., Meryem K. Terzioglu, M.D., Beenu Thakral, M.D., Patricia Tsang, M.D., M.B.A., Tayler A. van den Akker, M.D., Daniela Vulpe, B.S., Ritika Walia, M.D., M.B.B.S., Maxwell Walters-Smith, B.S., B.A., Endi Wang, M.D., Ph.D., Mariko Yabe, M.D., Ph.D., Cecilia C.S. Yeung, M.D., Ismail Elbaz Younes, M.D., Ling Zhang, M.D., Shuchi Zinzuwadia, B.S., Shweta S. Zinzuwadia, B.S.

Last staff update: 12 September 2024

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Related chapters: Bone marrow nonneoplastic, Hematology, Lymphoma & related disorders, Lymph nodes and spleen, nonlymphoid

Editorial Board oversight: Alexa J. Siddon, M.D. (last reviewed April 2023), Genevieve M. Crane, M.D., Ph.D. (last reviewed December 2022)
Table of contents
Bone marrow - neoplastic myeloid
General:books AML general (pending) flow cytometry how to do a bone marrow biopsy (procedure) (pending)
AML with recurrent genetic abnormalities:AML with BCR::ABL1 AML with CEBPA mutation (WHO-HAEM5-biallelic or ICC bzip) AML with mutated NPM1 AML with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM AML with inv(16)(p13.1;q22) or t(16;16)(p13.1;q22); CBFB::MYH11 AML with t(6;9)(p23;q34); DEK::NUP214 AML with t(8;21)(q22;q22); RUNX1::RUNX1T1 AML with t(9;11)(p22;q23); KMT2A::MLLT3 AML with other KMT2A rearrangements AML with other MECOM rearrangements (pending) APL with PML::RARA
AML with other rare recurrent translocations:AML with FUS::ERG (pending) AML with KAT6A::CREBBP AML with RUNX1T3(CBFA2T3)::GLIS2 AML with t(1;3)(p36;q21); RDM16::RPN1 AML (megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15::MRTF1 AML with t(3;5)(q25.3;q35.1); NPM1::MLF1 (pending) AML with t(5;11)(q35.2;p15.4); NUP98::NSD1 (pending) AML with t(7;12)(q36.3;p13.2) / ETV6::MNX1 (pending)
AML not otherwise specified:AML with minimal differentiation (FAB AML M0) AML without maturation (FAB AML M1) AML with maturation (FAB AML M2) Acute myelomonocytic leukemia (AMML) AML M5 M5a M5b AML M6 AMKL M7 acute basophilic leukemia AML with pseudo-Chediak-Higashi anomaly AML hypocellular
Other AML entities defined by the WHO:acute panmyelosis with myelofibrosis AML with myelodysplasia defining abnormalities myeloid leukemia associated with Down syndrome myeloid sarcoma therapy related myeloid neoplasm (therapy related AML) transient abnormal myelopoiesis associated with Down syndrome
Myelodysplastic syndromes / neoplasms (MDS):WHO classification - MDS MDS-general with del(5q) MDS prognostic scoring MDS, hypoplastic (pending) MDS in childhood MDS with single lineage dysplasia MDS with mutated SF3B1 MDS with multilineage dysplasia MDS with biallelic TP53 inactivation MDS with mutated TP53 (pending) MDS with excess blasts MDS unclassifiable refractory cytopenia of childhood (pending)
Premalignant clonal cytopenias:clonal cytopenia of undetermined significance (CCUS) (pending) clonal hematopoiesis of indeterminate potential (CHIP) (pending) paroxysmal nocturnal hemoglobinuria (PNH) VEXAS (pending)
Myeloproliferative neoplasms (MPN):chronic eosinophilic leukemia chronic myeloid leukemia (CML), BCR::ABL1 positive chronic neutrophilic leukemia essential thrombocythemia MPN unclassifiable polycythemia vera primary myelofibrosis
Mast cell neoplasms: cutaneous mastocytosis mast cell sarcoma (pending) systemic mastocytosis
MDS / MPN: atypical chronic myeloid leukemia; BCR::ABL1 negative chronic myelomonocytic leukemia juvenile myelomonocytic leukemia MDS / MPN - unclassifiable MDS / MPN with SF3B1 and thrombocytosis
Myeloid / lymphoid neoplasms with eosinophilia and gene rearrangement: PDGFRA rearrangement PDGFRB rearrangement ETV6::ABL1 fusion with other tyrosine kinase gene fusions (pending) FGFR1 rearrangement FLT3 rearrangement JAK2
Myeloid neoplasms with germline predisposition without a constitutional disorder affecting multiple organ systems:AML with germline CEBPA mutation (pending) myeloid or lymphoid neoplasms with germline TP53 mutation (pending) with DDX41 mutation
Hematologic neoplasms with germline predisposition and platelet disorders:myeloid or lymphoid neoplasms with germline RUNX1 mutation myeloid neoplasms with ANKRD26 mutation (pending) myeloid or lymphoid neoplasms with germline ETV6 mutation (pending)
Myeloid neoplasms with germline predisposition and other organ dysfunction: Diamond-Blackfan anemia Fanconi anemia juvenile myelomonocytic leukemia associated with neurofibromatosis (pending) juvenile myelomonocytic leukemia associated with Noonan syndrome-like disorder (CBL syndrome) (pending) myeloid neoplasms with germline GATA2 mutation myeloid neoplasms with germline SAMD9 mutation myeloid neoplasms with germline SAMD9L mutation (pending) severe congenital neutropenia (pending) Shwachman-Diamond syndrome telomere biology disorders including dyskeratosis congenita (pending) with Down syndrome (pending)
Miscellaneous: blastic plasmacytoid dendritic cell neoplasm idiopathic hypereosinophilic syndrome
Bone marrow - plasma cell and lymphoid neoplasms
Plasma cell neoplasms:heavy chain disease MGUS-IgM MGUS - non-IgM non secretory myeloma (pending) plasma cell leukemia plasma cell myeloma (multiple myeloma) plasmacytoma POEMS syndrome (osteosclerotic myeloma) TEMPI syndrome (pending)
Other:acute lymphoblastic leukemia / lymphoma cryoglobulinemia monoclonal immunoglobulin deposition diseases (pending) primary amyloidosis
B lymphoblastic leukemia / lymphoma with recurrent genetic abnormalities:t(1;19)(q23;p13.3); TCF3::PBX1 t(5;14)(q31;q32); IGH::IL3 t(9;22)(q34;q11); BCR::ABL1 t(12;21)(p13;q22); ETV6::RUNX1 t(v;11q23); KMT2A rearranged BCR::ABL1-like TCF3::HLF (pending) therapy related B ALL with hyperdiploidy with hypodiploidy with iAMP21
NK and T cell precursor lymphoid neoplasms:early T cell precursor lymphoblastic leukemia NK lymphoblastic leukemia / lymphoma T lymphoblastic lymphoma / leukemia
Acute leukemia of ambiguous lineage: acute undifferentiated leukemia ambiguous lineage NOS mixed phenotype
Disorders from other chapters: crystal storing histiocytosis heavy chain deposition disease light chain deposition disease

Bone marrow neoplastic stains & molecular markers:
Lymphoblastic initial panel: CD1a CD3 CD4 CD5 CD7 CD8 CD10 CD20 CD34 PAX5 TdT
Refining panel: CD19 CD56 CD79a CD99 CD117 CD123   myeloid markers

Primary marrow disorder initial screening: CD34 CD61 CD71 CD117 myeloperoxidase
Refining panel: CD11c CD14 CD42b CD64 E-cadherin glycophorin iron mast cell tryptase (pending) reticulin

Myeloma initial screening: CD138 kappa lambda
Refining panel: CD3 CD19 CD20 CD56 CD117 cyclin D1 EBER Ki67

Myeloid molecular markers: BCR::ABL1 CALR (pending) CEBPA (pending) CSF3R FLT3 IDH1 and IDH2 JAK2 MPL NPM1 PDGFRA PML::RARA RUNX1 SF3B1 (pending)

FISH: FISH overview myeloma prognostic probe sets (pending) TCL1

Next generation sequencing: NGS-general NGS library prep (pending)

Superpages: entire chapterimagesvirtual slides
Index (Alphabetical table of contents)
A-E:acute basophilic leukemia acute lymphoblastic leukemia / lymphoma Acute myelomonocytic leukemia (AMML) acute panmyelosis with myelofibrosis acute undifferentiated leukemia ambiguous lineage NOS AMKL M7 AML (megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15::MRTF1 AML general (pending) AML hypocellular AML M5 AML M6 AML with CEBPA mutation (WHO-HAEM5-biallelic or ICC bzip) AML with BCR::ABL1 AML with FUS::ERG (pending) AML with germline CEBPA mutation (pending) AML with inv(16)(p13.1;q22) or t(16;16)(p13.1;q22); CBFB::MYH11 AML with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM AML with KAT6A::CREBBP AML with maturation (FAB AML M2) AML with minimal differentiation (FAB AML M0) AML with mutated NPM1 AML with myelodysplasia defining abnormalities AML with other KMT2A rearrangements AML with other MECOM rearrangements (pending) AML with pseudo-Chediak-Higashi anomaly AML with RUNX1T3(CBFA2T3)::GLIS2 AML with t(1;3)(p36;q21); RDM16::RPN1 AML with t(3;5)(q25.3;q35.1); NPM1::MLF1 (pending) AML with t(5;11)(q35.2;p15.4); NUP98::NSD1 (pending) AML with t(6;9)(p23;q34); DEK::NUP214 AML with t(7;12)(q36.3;p13.2) / ETV6::MNX1 (pending) AML with t(8;21)(q22;q22); RUNX1::RUNX1T1 AML with t(9;11)(p22;q23); KMT2A::MLLT3 AML without maturation (FAB AML M1) APL with PML::RARA atypical chronic myeloid leukemia; BCR::ABL1 negative BCR::ABL1-like blastic plasmacytoid dendritic cell neoplasm chronic eosinophilic leukemia chronic myeloid leukemia (CML), BCR::ABL1 positive chronic myelomonocytic leukemia chronic neutrophilic leukemia clonal cytopenia of undetermined significance (CCUS) (pending) clonal hematopoiesis of indeterminate potential (CHIP) (pending) cryoglobulinemia cutaneous mastocytosis Diamond-Blackfan anemia early T cell precursor lymphoblastic leukemia essential thrombocythemia ETV6::ABL1 fusion with other tyrosine kinase gene fusions (pending)
F-N:Fanconi anemia FGFR1 rearrangement flow cytometry FLT3 rearrangement heavy chain disease how to do a bone marrow biopsy (procedure) (pending) idiopathic hypereosinophilic syndrome JAK2 juvenile myelomonocytic leukemia juvenile myelomonocytic leukemia associated with neurofibromatosis (pending) juvenile myelomonocytic leukemia associated with Noonan syndrome-like disorder (CBL syndrome) (pending) M5a M5b mast cell sarcoma (pending) MDS / MPN - unclassifiable MDS / MPN with SF3B1 and thrombocytosis MDS in childhood MDS prognostic scoring MDS unclassifiable MDS with biallelic TP53 inactivation MDS with excess blasts MDS with multilineage dysplasia MDS with mutated SF3B1 MDS with mutated TP53 (pending) MDS with single lineage dysplasia MDS, hypoplastic (pending) MDS-general MGUS - non-IgM MGUS-IgM mixed phenotype monoclonal immunoglobulin deposition diseases (pending) MPN unclassifiable myeloid leukemia associated with Down syndrome myeloid neoplasms with ANKRD26 mutation (pending) myeloid neoplasms with germline GATA2 mutation myeloid neoplasms with germline SAMD9 mutation myeloid neoplasms with germline SAMD9L mutation (pending) myeloid or lymphoid neoplasms with germline ETV6 mutation (pending) myeloid or lymphoid neoplasms with germline RUNX1 mutation myeloid or lymphoid neoplasms with germline TP53 mutation (pending) myeloid sarcoma NK lymphoblastic leukemia / lymphoma non secretory myeloma (pending)
O-Z:paroxysmal nocturnal hemoglobinuria (PNH) PDGFRA rearrangement PDGFRB rearrangement plasma cell leukemia plasma cell myeloma (multiple myeloma) plasmacytoma POEMS syndrome (osteosclerotic myeloma) polycythemia vera primary amyloidosis primary myelofibrosis refractory cytopenia of childhood (pending) severe congenital neutropenia (pending) Shwachman-Diamond syndrome systemic mastocytosis T lymphoblastic lymphoma / leukemia t(12;21)(p13;q22); ETV6::RUNX1 t(1;19)(q23;p13.3); TCF3::PBX1 t(5;14)(q31;q32); IGH::IL3 t(9;22)(q34;q11); BCR::ABL1 t(v;11q23); KMT2A rearranged TCF3::HLF (pending) telomere biology disorders including dyskeratosis congenita (pending) TEMPI syndrome (pending) therapy related B ALL therapy related myeloid neoplasm (therapy related AML) transient abnormal myelopoiesis associated with Down syndrome VEXAS (pending) WHO classification - MDS with DDX41 mutation with del(5q) with Down syndrome (pending) with hyperdiploidy with hypodiploidy with iAMP21
Bone marrow neoplastic books

Beck: 2021

Cherry: 2022

Dorfman: 2023

Hsi: 2017

Hudnall: 2019

Husain: 2021

IARC: 2017

Jaffe: 2016

Kantarjian: 2016

Lanzkowsky: 2016

Naeim: 2018

Wake: 2023

Wang: 2020



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