Haematopathology-WHO 5th classification の変更点

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#author("2022-07-29T20:11:01+09:00","","")
#author("2022-07-29T20:21:08+09:00","","")
[[Wikipathologica-KDP]]

[[To lymphoid neoplasm]]



*The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours [#c4730843]

2022.7月時点の文献　blue book出版はまだ先になりそうと病理学会中部支部の講演で聞きました.

Khoury JD, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: &color(#d3381c){''Myeloid and Histiocytic/Dendritic Neoplasms''};. Leukemia. 2022 Jul;36(7):1703-1719.[[PMID: 35732831:https://pubmed.ncbi.nlm.nih.gov/35732831/]] &color(#e60033){free};


Alaggio R, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: &color(#d3381c){''Lymphoid Neoplasms''};. Leukemia. 2022 Jul;36(7):1720-1748.[[PMID: 35732829:https://pubmed.ncbi.nlm.nih.gov/35732829/]] &color(#e60033){free};

Editorial&note{:Cree IA., The WHO Classification of Haematolymphoid Tumours. Leukemia. 2022; 36(7): 1701-1702. [[PMID: 35732830:https://pubmed.ncbi.nlm.nih.gov/35732830/]] free};

本稿執筆時点では、本編は技術的編集に先立ち、IARCの編集チェックを受けているところです。2022年7月にベータ版がオンライン化される予定である。~
これにより、購読用ウェブサイト[[https://tumourclassification.iarc.who.int/welcome/]]のユーザーからのフィードバックが可能となり、2022年末には印刷版の出版が予定されている. すべてが順調であることが期待される。

#contents

[[WHO 5th classification of Lymphoid neoplsm]] のページに行く. 


*Myeloid and Histiocytic/Dendritic Neoplasms [#dd8bae0c]

***Clonal Haematopoiesis [#n5c85780]

- CH is recognized as a category of precursor myeloid disease state.
- CHIP and CCUS are formally defined.

***Myeloproliferative neoplasms [#eaf921ff]

-Chronic myeloid leukaemia
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-Polycythaemia vera
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-Essential thrombocythaemia
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-Primary myelofibrosis
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-Chronic neutrophilic leukaemia
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-Chronic eosinophilic leukaemia
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-Juvenile myelomonocytic leukaemia
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-Myeloproliferative neoplasm, not otherwise specified
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--Summary Box:~
● CML phases consolidated into chronic and blast phases, with emphasis
on risk features in chronic phase.~
● Diagnostic criteria of CEL are updated, and the qualifier NOS is omitted.~
● JMML is categorized under myeloproliferative neoplasms.
#br
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***Mastocytosis types and subtypes. [#m73aeefb]

''Cutaneous mastocytosis''

-Urticaria pigmentosa/Maculopapular cutaneous mastocytosis

--Monomorphic
--Polymorphic

-Diffuse cutaneous mastocytosis

-Cutaneous mastocytoma

--Isolated mastocytoma

--Multilocalized mastocytoma

''Systemic mastocytosis''

-Bone marrow mastocytosis

-Indolent systemic mastocytosis

-Smoldering systemic mastocytosis

-Aggressive systemic mastocytosis

-Systemic mastocytosis with an associated haematologic
neoplasm

-Mast cell leukemia

''Mast cell sarcoma''

Summary Box:&br;
● Diagnostic criteria for mastocytosis have been refined: CD30 and any KIT
mutation are introduced as minor diagnostic criteria.~
● Bone marrow mastocytosis is a new SM subtype.~
● KIT D816V mutation with VAF ≧10% qualifies as a B-finding.

***Myelodysplastic syndrome&color(#e60033){s}; [#jd9a567b]

''MDS with &color(#c9171e){defining genetic abnormalities};''

Blasts <5% BM and <2% PB

-MDS with low blasts and isolated 5q deletion (MDS-5q) ; 5q deletion 単独異常, あるいはもう一つの遺伝子異常. ただし, monosomy 7と7q deletionは除く.

-MDS with low blasts and SF3B1 mutationa (MDS-SF3B1); 5q欠失、monosomy 7、または複合核型complex karyotypeがないこと

Blasts <20% BM and PB

-MDS with biallelic TP53 inactivation(MDS-biTP53)
#br

''MDS, &color(#c9171e){morphologically defined};''

-MDS with low blasts (MDS-LB) <5% BM and <2% PB

-MDS, hypoplasticb (MDS-h)

-MDS with ''increased blasts'' (MDS-IB)

--MDS-IB1 Blasts; 5-9% BM or 2-4% PB

--MDS-IB2 Blasts; 10-19% BM or 5-19% PB or Auer rods

--MDS with fibrosis (MDS-f) Blasts; 5-19% BM; 2-19% PB

-Childhood MDS with low blasts Blasts; <5% BM; <2% PB

--Hypocellular

--Not otherwise specified

-Childhood MDS with ''increased blasts''　Blasts;  5-19% BM; 2-19% PB
#br

--Summary Box of MDSs:~
● Myelodysplastic syndromes renamed myelodysplastic neoplasms
(abbreviated MDS).~
● MDS genetic types updated to include MDS-5q, MDS-SF3B1 and MDSbiTP53~
● Hypoplastic MDS (MDS-h) is recognized as a distinct disease type.~
● MDS with low blasts (MDS-LB) is a new term that enhances clarity.~
● MDS with increased blasts (MDS-IB) is a new term that enhances clarity.~
● Terminology of childhood MDS types is updated.
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***Myelodysplastic/myeloproliferative neoplasms. [#h7ae6a9d]

-Chronic myelomonocytic leukaemia

-Myelodysplastic/myeloproliferative neoplasm with neutrophilia (4th Ed; atypical CML)

-Myelodysplastic/myeloproliferative neoplasm with SF3B1 mutation and thrombocytosis (4th Ed; RARS-T; ring sideroblastsと血小板増多を伴うMDS/MPN)

-Myelodysplastic/myeloproliferative neoplasm, not otherwise specified
#br

--Summary Box of MDS/MPN :~
● CMMLの診断基準が大幅に改訂され、&color(#b94047){絶対単球数のカットオフ値の引き下げ、MD-CMMLおよびMPCMMLのサブタイプの採用、CMML-0の廃止};などが行われた。
#br
● Atypical chronic myeloid leukaemia(非定型慢性骨髄性白血病)が&color(#c9171e){''MDS/MPN with neutrophilia(好中球増加症を伴うMDS/MPN)''};に名称変更された。
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● ring sideroblastsと血小板増多を伴うMDS/MPNをSF3B1変異に基づき再定義し、&color(#c9171e){''MDS/MPN with SF3B1 mutation and thrombocytosis''};と改名した。
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#br

***Acute myeloid leukaemia. [#u5a50860]

AMLの分類は、この疾患の理解と治療法における過去数年間の大きなブレークスルーを強調するために、再定義された。最も重要なことは、遺伝子異常を定義したAMLと分化を定義したAMLを分離したことである.後者は、これまでAML NOSという用語を使用して、分化に基づく型を記載していたため、混乱を招いていたが、これを解消した。

もう一つの重要な変更点は、上記のように、遺伝的異常を持つAML(BCR:：ABL1融合型とCEBPA変異型のAMLを除く）については、20％の芽球減少の要件が撤廃されたことである。~
もう一つの重要な変更点は、上記のように、&color(#e2041b){''遺伝的異常を持つAML(BCR:：ABL1融合型とCEBPA変異型のAMLを除く）については、20％の芽球減少の要件が撤廃されたこと''};である。~
芽球のカットオフを解除するには、形態学的所見と分子遺伝学的研究を相関させ、決定的な異常が病態を駆動していることを確認する必要がある。この方法は、任意の低い骨髄芽球のカットオフ値を割り当てるよりも、より適切であると判断された。

新しい分類の第三の構成要素は、他の遺伝的変化を伴うAMLセクションの導入である。これは、将来の改訂版で定義される可能性のある、あるいはされないかもしれない新しいAML亜型のための着陸点である。このように、AMLの全体的な分類構造は、臨床的、分子的/遺伝的、病理学的パラメーターの統合と臨床病理学的判断の重視を継続している。

Acute myeloid leukaemia with defining genetic abnormalities

-Acute promyelocytic leukaemia with PML::RARA fusion

-Acute myeloid leukaemia with RUNX1::RUNX1T1 fusion

-Acute myeloid leukaemia with CBFB::MYH11 fusion

-Acute myeloid leukaemia with DEK::NUP214 fusion

-Acute myeloid leukaemia with RBM15::MRTFA fusion

-Acute myeloid leukaemia with BCR::ABL1 fusion

-Acute myeloid leukaemia with KMT2A rearrangement

-Acute myeloid leukaemia with MECOM rearrangement

-Acute myeloid leukaemia with NUP98 rearrangement

-Acute myeloid leukaemia with NPM1 mutation

-Acute myeloid leukaemia with CEBPA mutation

-Acute myeloid leukaemia, myelodysplasia-related

-Acute myeloid leukaemia with other defined genetic alterations

''Acute myeloid leukaemia, defined by differentiation''

-Acute myeloid leukaemia with minimal differentiation

-Acute myeloid leukaemia without maturation

-Acute myeloid leukaemia with maturation

-Acute basophilic leukaemia

-Acute myelomonocytic leukaemia

-Acute monocytic leukaemia

-Acute erythroid leukaemia

-[[Acute megakaryoblastic leukaemia]]
#br
-Myeloid sarcoma
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--Summary Box:~
● AML is arranged into two families: AML with &color(#e60033){defining genetic abnormalities and AML defined by differentiation.}; AML, NOS is no longer applicable.
#br
● Most &color(#c9171e){''AML with defining genetic abnormalities may be diagnosed with <20% blasts''};.
#br
● AML-MR は、従来の「骨髄異形成に関連した変化を伴うAML (AML with myelodysplasia-related changes)」という用語に代わるもので, その診断基準も更新されている。~
MDSおよびMDS/MPNのAML化は,より広範で統一的な生物学的特徴を考慮し、引き続きAML-MRの下で定義される。
#br
● &color(#c9171e){''AML with rare fusions''};are incorporated as subtypes under AML with other defined genetic alterations.
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● AML with somatic RUNX1 mutation &color(#c9171e){''is not recognized as a distinct disease''}; type due to lack of sufficient unifying characteristics.


acute promyelocytic leukaemiaはもうなくなってしまったんですね. M numberも消えましたね.
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***SECONDARY MYELOID NEOPLASMS [#hfdbbb96]
A newly segregated category encompassing diseases that arise in the setting of certain known predisposing factors(特定の素因がある場合に発症する疾患として新たに分類される。)

-Myeloid neoplasms post cytotoxic therapy: ~
introduction of more precise terminology and novel associations with new cytotoxic drug classes


-Myeloid neoplasms associated with germline predisposition:~
A novel scalable model is introduced


--Summary Box:~
● Myeloid neoplasms (MDS, MDS/MPN, and AML) post cytotoxic therapy(MN-pCT) require full diagnostic work up; the term replaces therapyrelated.~
● Exposure to PARP1 inhibitors is added as a qualifying criterion for MNpCT.~
● The diagnostic framework for myeloid neoplasm associated with germline predisposition is restructured along a scalable model that can accommodate future refinement and discoveries.
#br

MYELOID/LYMPHOID NEOPLASMS WITH EOSINOPHILIA AND TYROSINE KINASE GENE FUSIONS

Genetic abnormalities defining myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions.

-PDGFRA rearrangement

-PDGFRB rearrangement

-FGFR1 rearrangement

-JAK2 rearrangement

-FLT3 rearrangement

-ETV6::ABL1 fusion

-Other defined tyrosine kinase fusions: ETV6::FGFR2; ETV6::LYN; ETV6::NTRK3; RANBP2::ALK; BCR::RET; FGFR1OP::RET

Summary Box:~
● Family renamed myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK).

● Recognition of novel types with JAK2 rearrangements, FLT3 rearrangements,and ETV6::ABL1 fusion.

● New scalable genetic framework introduced under MLN-TK with other defined tyrosine kinase fusions.

#br

***ACUTE LEUKAEMIAS OF MIXED OR AMBIGUOUS LINEAGE [#vcf27329]

''Acute leukaemia of ambiguous lineage with defining genetic abnormalities''

-Mixed-phenotype acute leukaemia with BCR::ABL1 fusion

-Mixed-phenotype acute leukaemia with KMT2A rearrangement

-Acute leukaemia of ambiguous lineage with other defined genetic alterations

--Mixed-phenotype acute leukaemia with ZNF384 rearrangement

--Acute leukaemia of ambiguous lineage with BCL11B rearrangement

''Acute leukaemia of ambiguous lineage, immunophenotypically defined''

-Mixed-phenotype acute leukaemia, B/myeloid

-Mixed-phenotype acute leukaemia, T/myeloid

-Mixed-phenotype acute leukaemia, rare types

-Acute leukaemia of ambiguous lineage, not otherwise specified

-Acute undifferentiated leukaemia
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***Histiocytic/ Dendritic cell neoplasms [#f9f09024]

&color(#d7003a){●};　Plasmacytoid dendritic cell neoplasms: 骨髄性腫瘍に関連して検出されるクローン性増殖の認識 および芽球性樹状細胞新生物の診断基準の改訂,更新.

&color(#d7003a){●};　Dendritic and histiocytic neoplasms: Rosai-Dorfman病とALK陽性組織球症は本分類上新しい疾患である 


''Plasmacytoid dendritic cell neoplasms''

-Mature plasmacytoid dendritic cell proliferation associated with myeloid neoplasm

-Blastic plasmacytoid dendritic cell neoplasm

''Langerhans cell and other dendritic cell neoplasms''

-Langerhans cells neoplasms

-Langerhans cell histiocytosis

-Langerhans cell sarcoma

''Other dendritic cell neoplasms''

-Indeterminate dendritic cell tumour

-Interdigitating dendritic cell sarcoma

''Histiocytic neoplasms''

-Juvenile xanthogranuloma

-Erdheim-Chester disease

-Rosai-Dorfman disease

-ALK-positive histiocytosis

-Histiocytic sarcoma
#br

Summary Box:~
● Histiocytic/dendritic cell neoplasms are regrouped and positioned tofollow myeloid neoplasms in the classification scheme in view of theirclose ontogenic derivation.

● Mature pDC proliferation is redefined with an emphasis on recent data demonstrating shared clonality with underlying myeloid neoplasms. This framework is bound to evolve in future editions.

● Diagnostic criteria of BPDCN are refined.

● ALK-positive histiocytosis is introduced as a new entity.
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***Genetic tumor syndromes with predisposition to myeloid neoplasia [#f042af1b]

''Fanconi anemia''

''RASopathies''