Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
- lymphadenopathy
- hepatosplenomegaly
- pallor, ecchymoses, or petechiae
- constitutional symptoms (fevers, night sweats, weight loss)
- recurrent infections
- fatigue, dizziness, palpitations, and dyspnoea
- bruising, epistaxis, heavy menstrual bleeding
Other diagnostic factors
- mental status changes, focal neurological signs/deficits, headache, papilloedema, nuchal rigidity, and meningismus
- renal enlargement
- bone pain
- painless unilateral testicular enlargement
- abdominal pain
- mediastinal or abdominal mass
- pleural effusion
- skin infiltrations
Risk factors
- 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
Diagnostic investigations
1st investigations to order
- FBC 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 hybridisation [FISH])
- molecular testing (reverse transcriptase polymerase chain reaction [RT-PCR])
- next-generation sequencing (NGS) assay
- blood group and antibody screening
- antibody testing for infection
Investigations to consider
- 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
Treatment algorithm
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
Contributors
Authors
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
WA
Disclosures
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.
Acknowledgements
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.
Disclosures
MO, MP, EC, CHN, AVR, MS, SB, and RL declare that they have no competing interests.
Peer reviewers
Olga Kozyreva, MD
Staff Physician
Department of Hematology and Oncology
New England Medical Center
Tufts University
Boston
MA
Disclosures
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
UK
Disclosures
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.
References
Key articles
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.Full text Abstract
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.Full text Abstract
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: acute lymphoblastic leukemia [internet publication].Full text
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.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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