Acute lymphoblastic leukemia

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Última revisão: 21 Aug 2025

Última atualização: 06 Jun 2025

Acute lymphoblastic leukemia (ALL) is a rare malignant clonal disease that develops when a lymphoid progenitor cell undergoes uncontrolled proliferation.

Most patients have signs and symptoms related to cytopenias (e.g., fatigue, easy bruising) at initial presentation and diagnosis. Enlarged lymph nodes can be an initial presenting sign.

Physical exam may reveal pallor, ecchymoses, lymphadenopathy, or hepatosplenomegaly. There may also be evidence of tissue infiltration such as bone pain, testicular enlargement, and cranial nerve palsies.

A definitive diagnosis of ALL requires cytomorphology assessment, immunophenotyping, molecular studies, and cytogenetic analysis of the bone marrow (or peripheral blood if there are sufficient numbers of circulating lymphoblasts).

Treatment includes the use of chemotherapy-based multiagent therapy, targeted therapy, and immunotherapy in induction, consolidation, and maintenance phases. Allogeneic stem cell transplantation (SCT) is considered in selected patients.

Salvage chemotherapy, immunotherapy, targeted therapy, and SCT are options for relapsed, refractory, or residual disease.

Despite the aggressive treatment approach, only 40% to 60% of adults with ALL are cured. Long-term adverse effects of treatment include heart failure, sterility, secondary malignancies, and neurotoxicity.

Definição

ALL is a malignant clonal disease that develops when a lymphoid progenitor cell becomes genetically altered through somatic changes and undergoes uncontrolled proliferation. This progressive clonal expansion eventually leads to ALL, characterized by early lymphoid precursors replacing the normal hematopoietic cells of the bone marrow and further infiltrating various body organs.[1][2]

B-ALL (arising from B lymphoid progenitors) accounts for approximately 75% of adult cases, with the remainder being predominantly T-ALL (arising from T lymphoid progenitors).[3] Mixed-phenotype (B-cell and T-cell) ALL may occur, but is exceptionally rare.

História e exame físico

Principais fatores diagnósticos

lymphadenopathy
hepatosplenomegaly
pallor, ecchymoses, or petechiae
constitutional symptoms (fevers, night sweats, weight loss)
recurrent infections
fatigue, dizziness, palpitations, and dyspnea
bruising, epistaxis, heavy menstrual bleeding

Detalhes completos

Outros fatores diagnósticos

mental status changes, focal neurologic signs/deficits, headache, papilledema, nuchal rigidity, and meningismus
renal enlargement
bone pain
painless unilateral testicular enlargement
abdominal pain
mediastinal or abdominal mass
pleural effusion
skin infiltrations

Detalhes completos

Fatores de risco

children <5 years of age
genetic factors
family history of ALL
viral infections
environmental factors
history of malignancy
treatment with chemotherapy
male sex
Hispanic populations
folate metabolism polymorphisms
poor maternal diet

Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

CBC with differential
peripheral blood smear
serum electrolytes
serum uric acid
serum lactate dehydrogenase (LDH)
renal function tests
liver function tests
coagulation profile
bone marrow evaluation (cytomorphology)
immunophenotyping
cytogenetic analysis (karyotyping and fluorescence in situ hybridization [FISH])
molecular testing (reverse transcriptase polymerase chain reaction [RT-PCR])
next-generation sequencing (NGS) assay
blood group and antibody screening
antibody testing for infection

Detalhes completos

Investigações a serem consideradas

lumbar puncture
chest radiograph
pleural tap
CT/MRI of head
CT neck, thorax, abdomen, pelvis
scrotal ultrasound
baseline measurable residual disease (MRD) testing
thiopurine methyltransferase (TPMT) phenotyping
nudix hydrolase 15 (NUDT15) phenotyping
HLA-typing
echocardiogram or multigated acquisition (MUGA) scan

Detalhes completos

Algoritmo de tratamento

AGUDA

adolescents and adults: newly diagnosed Ph+ B-ALL

adolescents and adults: newly diagnosed Ph-negative B-ALL or T-ALL

CONTÍNUA

complete remission: Ph+ B-ALL

complete remission: Ph-negative B-ALL

complete remission: T-ALL

relapsed or refractory disease

Colaboradores

Autores

Ryan D. Cassaday, MD

Associate Professor

Division of Hematology and Oncology, University of Washington School of Medicine

Clinical Research Division, Fred Hutchinson Cancer Center

Seattle

Declarações

RDC has received research funding from Amgen, Jazz Pharmaceuticals, Incyte, Kite/Gilead, Merck, Pfizer, Servier, and Vanda Pharmaceuticals; honoraria/consulting from Amgen, Jazz, Kite/Gilead, and Pfizer; serves on a board/advisory committee for Autolus and PeproMene Bio; and his spouse has been employed by and owned stock in Seagen. RDC is an author of several articles cited in the topic.

Agradecimentos

Dr Ryan D. Cassaday would like to gratefully acknowledge Dr Melissa Ooi, Dr Michelle Poon, Dr Esther Chan, Dr Chin Hin Ng, Dr Arati V. Rao, Dr Matthew Smith, Dr Samer Bleibel, and Dr Robert Leonard, previous contributors to this topic.

Declarações

MO, MP, EC, CHN, AVR, MS, SB, and RL declare that they have no competing interests.

Revisores

Olga Kozyreva, MD

Staff Physician

Department of Hematology and Oncology

New England Medical Center

Tufts University

Boston

Declarações

OK declares that she has no competing interests.

Shankaranarayana Paneesha, MD, MRCP, FRCPath

Consultant Haematologist

Department of Haematology and Stem Cell Transplantation

Heartlands Hospital

Birmingham

Declarações

SP declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

Alaggio R, Amador C, Anagnostopoulos I, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: lymphoid neoplasms. Leukemia. 2022 Jul;36(7):1720-48.Texto completo Resumo

Arber DA, Orazi A, Hasserjian RP, et al. International consensus classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022 Sep 15;140(11):1200-8.Texto completo Resumo

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: acute lymphoblastic leukemia [internet publication].Texto completo

Hoelzer D, Bassan R, Dombret H, et al. Acute lymphoblastic leukaemia in adult patients: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2016 Sep;27(suppl 5):v69-82.Texto completo Resumo

National Comprehensive Cancer Network. NCCN practice guidelines in oncology: pediatric acute lymphoblastic leukemia [internet publication].Texto completo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

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Acute lymphoblastic leukemia

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

Outros fatores diagnósticos

Fatores de risco

Investigações diagnósticas

Primeiras investigações a serem solicitadas

Investigações a serem consideradas

Algoritmo de tratamento

adolescents and adults: newly diagnosed Ph+ B-ALL

adolescents and adults: newly diagnosed Ph-negative B-ALL or T-ALL

complete remission: Ph+ B-ALL

complete remission: Ph-negative B-ALL

complete remission: T-ALL

relapsed or refractory disease

Colaboradores

Autores

Ryan D. Cassaday, MD

Declarações

Agradecimentos

Declarações

Revisores

Olga Kozyreva, MD

Declarações

Shankaranarayana Paneesha, MD, MRCP, FRCPath

Declarações

Peer reviewer acknowledgements

Disclosures

Referências

Principais artigos

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais

Diretrizes

Folhetos informativos para os pacientes

Videos

Conectar-se ou assinar para acessar todo o BMJ Best Practice

Conectar-se ou assinar para acessar todo o BMJ Best Practice

Conectar-se para acessar todo o BMJ Best Practice