Initial Diagnostic Work-Up of Acute Leukemia: ASCO Clinical Practice Guideline Endorsement of the College of American Pathologists and American Society of Hematology Guideline.

PURPOSE The College of American Pathologists (CAP) and the American Society of Hematology (ASH) developed an evidence-based guideline on the initial diagnostic work-up of acute leukemia (AL). Because of the relevance of this topic to the ASCO membership, ASCO reviewed the guideline and applied a set of procedures and policies for endorsing clinical practice guidelines that have been developed by other professional organizations. METHODS The CAP-ASH guideline on initial diagnostic work-up of AL was reviewed for developmental rigor by methodologists. Then, an ASCO Endorsement Expert Panel updated the literature search and reviewed the content and recommendations. RESULTS The ASCO Expert Panel determined that the recommendations from the guideline, published in 2016, are clear, thorough, and based on the most relevant scientific evidence. ASCO fully endorsed the CAP-ASH guideline on initial diagnostic work-up of AL and included some discussion points according to clinical practice and updated literature. CONCLUSION Twenty-seven guideline statements were reviewed. Some discussion points were included to better assess CNS involvement in leukemia and to provide novel insights into molecular diagnosis and potential markers for risk stratification and target therapy. These discussions are categorized into four sections: (1) initial diagnosis focusing on basic diagnostics and determination of risk parameters, (2) molecular markers and minimal residual disease detection, (3) context of referral to another institution with expertise in the management of AL, and (4) reporting and record keeping for better outlining and follow-up discussion. Additional information is available at: www.asco.org/hematologic-malignancies-guidelines .

[1]  M. Patnaik The importance of FLT3 mutational analysis in acute myeloid leukemia , 2018, Leukemia & lymphoma.

[2]  C. Flowers,et al.  Antimicrobial Prophylaxis for Adult Patients With Cancer-Related Immunosuppression: ASCO and IDSA Clinical Practice Guideline Update. , 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[3]  E. Mejstrikova,et al.  International cooperative study identifies treatment strategy in childhood ambiguous lineage leukemia. , 2018, Blood.

[4]  D. Gómez-Almaguer,et al.  Comparison of conventional cytomorphology, flow cytometry immunophenotyping, and automated cell counting of CSF for detection of CNS involvement in acute lymphoblastic leukemia , 2018, International journal of laboratory hematology.

[5]  Torsten Haferlach,et al.  Minimal/measurable residual disease in AML: a consensus document from the European LeukemiaNet MRD Working Party. , 2018, Blood.

[6]  C. Flowers,et al.  Outpatient Management of Fever and Neutropenia in Adults Treated for Malignancy: American Society of Clinical Oncology and Infectious Diseases Society of America Clinical Practice Guideline Update. , 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[7]  T. Naoe,et al.  Prognostic value of genetic mutations in adolescent and young adults with acute myeloid leukemia , 2018, International Journal of Hematology.

[8]  J. Soulier,et al.  Oncogenetic mutations combined with MRD improve outcome prediction in pediatric T-cell acute lymphoblastic leukemia. , 2018, Blood.

[9]  D. Johnston,et al.  Central nervous system disease in pediatric acute myeloid leukemia: A report from the Children's Oncology Group , 2017, Pediatric blood & cancer.

[10]  R. Saxena,et al.  Higher rate of central nervous system involvement by flow cytometry than morphology in acute lymphoblastic leukemia , 2017, International journal of laboratory hematology.

[11]  M. Loh,et al.  Oncogenic role and therapeutic targeting of ABL-class and JAK-STAT activating kinase alterations in Ph-like ALL. , 2017, Blood advances.

[12]  R. Epstein,et al.  Patient-Clinician Communication: American Society of Clinical Oncology Consensus Guideline. , 2017, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[13]  M. D. Den Boer,et al.  BCR-ABL1-like acute lymphoblastic leukaemia: From bench to bedside. , 2017, European journal of cancer.

[14]  Jacqueline S. Garcia,et al.  The Development of FLT3 Inhibitors in Acute Myeloid Leukemia. , 2017, Hematology/oncology clinics of North America.

[15]  E. Thiel,et al.  Loss-of-function but not dominant-negative intragenic IKZF1 deletions are associated with an adverse prognosis in adult BCR-ABL-negative acute lymphoblastic leukemia , 2017, Haematologica.

[16]  F. Appelbaum,et al.  Acute Myeloid Leukemia, Version 3.2017, NCCN Clinical Practice Guidelines in Oncology. , 2017, Journal of the National Comprehensive Cancer Network : JNCCN.

[17]  A. Wölfler,et al.  Detection of prognostically relevant mutations and translocations in myeloid sarcoma by next generation sequencing , 2017, Leukemia & lymphoma.

[18]  Rhona J. Souers,et al.  Evaluation of Testing of Acute Leukemia Samples: Survey Result From the College of American Pathologists. , 2017, Archives of pathology & laboratory medicine.

[19]  Sepideh Shakeri,et al.  Prognostic Importance of C-KIT Mutations in Core Binding Factor Acute Myeloid Leukemia: A Systematic Review. , 2017, Hematology/oncology and stem cell therapy.

[20]  A. Roberts Venetoclax: a primer. , 2017, Blood advances.

[21]  Sa A Wang,et al.  Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology. , 2017, Archives of pathology & laboratory medicine.

[22]  U. Surti,et al.  The Genomic Landscape of PAX5, IKZF1, and CDKN2A/B Alterations in B-Cell Precursor Acute Lymphoblastic Leukemia , 2017, Cytogenetic and Genome Research.

[23]  Bob Löwenberg,et al.  Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. , 2017, Blood.

[24]  Heather L. Mulder,et al.  Deregulation of DUX4 and ERG in acute lymphoblastic leukemia , 2016, Nature Genetics.

[25]  J. Manola,et al.  Extramedullary Disease in Adult Acute Myeloid Leukemia Is Common but Lacks Independent Significance: Analysis of Patients in ECOG-ACRIN Cancer Research Group Trials, 1980-2008. , 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[26]  S. Canovi,et al.  Accuracy of flow cytometry and cytomorphology for the diagnosis of meningeal involvement in lymphoid neoplasms: A systematic review , 2016, Diagnostic cytopathology.

[27]  G. Salles,et al.  Pediatric-Like Acute Lymphoblastic Leukemia Therapy in Adults With Lymphoblastic Lymphoma: The GRAALL-LYSA LL03 Study. , 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[28]  Mark D. Miller,et al.  Childhood leukemia incidence in California: High and rising in the Hispanic population , 2016, Cancer.

[29]  W. Hiddemann,et al.  Spectrum and prognostic relevance of driver gene mutations in acute myeloid leukemia. , 2016, Blood.

[30]  Mario Cazzola,et al.  The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. , 2016, Blood.

[31]  Cheng Cheng,et al.  Genomic Profiling of Adult and Pediatric B-cell Acute Lymphoblastic Leukemia , 2016, EBioMedicine.

[32]  Yashma Patel,et al.  Assessment of Minimal Residual Disease in Standard-Risk AML. , 2016, The New England journal of medicine.

[33]  D. Grimwade,et al.  Molecular landscape of acute myeloid leukemia in younger adults and its clinical relevance. , 2016, Blood.

[34]  D. Johnston,et al.  Clinical Impact of Additional Cytogenetic Aberrations, cKIT and RAS Mutations, and Treatment Elements in Pediatric t(8;21)-AML: Results From an International Retrospective Study by the International Berlin-Frankfurt-Münster Study Group. , 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[35]  W. Evans,et al.  BCR-ABL1-like cases in pediatric acute lymphoblastic leukemia: a comparison between DCOG/Erasmus MC and COG/St. Jude signatures , 2015, Haematologica.

[36]  E. Clappier,et al.  IKZF1 deletion is an independent prognostic marker in childhood B-cell precursor acute lymphoblastic leukemia, and distinguishes patients benefiting from pulses during maintenance therapy: results of the EORTC Children's Leukemia Group study 58951 , 2015, Leukemia.

[37]  C. Crespi,et al.  Race/ethnicity and the risk of childhood leukaemia: a case–control study in California , 2015, Journal of Epidemiology & Community Health.

[38]  E. Estey,et al.  Central nervous system involvement in acute myeloid leukemia patients undergoing hematopoietic cell transplantation. , 2015, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

[39]  C. Mullighan The genomic landscape of acute lymphoblastic leukemia in children and young adults. , 2014, Hematology. American Society of Hematology. Education Program.

[40]  C. Preudhomme,et al.  Prognostic value of TP53 gene mutations in myelodysplastic syndromes and acute myeloid leukemia treated with azacitidine. , 2014, Leukemia research.

[41]  J. Cayuela,et al.  Oncogenetics and minimal residual disease are independent outcome predictors in adult patients with acute lymphoblastic leukemia. , 2014, Blood.

[42]  F. Locatelli,et al.  Core-binding factor acute myeloid leukemia in pediatric patients enrolled in the AIEOP AML 2002/01 trial: screening and prognostic impact of c-KIT mutations , 2014, Leukemia.

[43]  Lincoln D. Stein,et al.  Identification of pre-leukemic hematopoietic stem cells in acute leukemia , 2014, Nature.

[44]  I. Weissman,et al.  Preleukemic mutations in human acute myeloid leukemia affect epigenetic regulators and persist in remission , 2014, Proceedings of the National Academy of Sciences.

[45]  A. Linos,et al.  Work-related leukemia: a systematic review , 2013, Journal of Occupational Medicine and Toxicology.

[46]  J. Soulier,et al.  Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia , 2013, Haematologica.

[47]  D. Johnston,et al.  Diagnosis and management of acute myeloid leukemia in children and adolescents: recommendations from an international expert panel. , 2012, Blood.

[48]  C. Mullighan Molecular genetics of B-precursor acute lymphoblastic leukemia. , 2012, The Journal of clinical investigation.

[49]  M. Heuser,et al.  Prevalence and prognostic value of IDH1 and IDH2 mutations in childhood AML: a study of the AML–BFM and DCOG study groups , 2011, Leukemia.

[50]  Manuela Zucknick,et al.  IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[51]  M. Caligiuri,et al.  IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[52]  I. Bernstein,et al.  Prevalence and prognostic significance of KIT mutations in pediatric patients with core binding factor AML enrolled on serial pediatric cooperative trials for de novo AML. , 2010, Blood.

[53]  C. Bloomfield,et al.  The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. , 2009, Blood.

[54]  K. Shojania,et al.  How Quickly Do Systematic Reviews Go Out of Date? A Survival Analysis , 2007, Annals of Internal Medicine.

[55]  S. Meshinchi,et al.  Mutations in KIT and RAS are frequent events in pediatric core-binding factor acute myeloid leukemia , 2005, Leukemia.

[56]  D. Hémon,et al.  Acute childhood leukaemia and environmental exposure to potential sources of benzene and other hydrocarbons; a case-control study , 2004, Occupational and Environmental Medicine.

[57]  D. Liang,et al.  FLT3-TKD mutation in childhood acute myeloid leukemia , 2003, Leukemia.

[58]  B. Camitta,et al.  Evaluation of cerebrospinal fluid mononuclear cells obtained from children with acute lymphocytic leukemia: advantages of combining cytomorphology and terminal deoxynucleotidyl transferase. , 1983, American journal of clinical pathology.

[59]  Thomas J. Smith,et al.  Integration of Palliative Care Into Standard Oncology Care: American Society of Clinical Oncology Clinical Practice Guideline Update. , 2017, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[60]  S. Horswell,et al.  The Wilms Tumor-1 (WT1) rs2234593 variant is a prognostic factor in normal karyotype acute myeloid leukemia , 2015, Annals of Hematology.

[61]  M. Klobušická Reliability and limitations of cytochemistry in diagnosis of acute myeloid leukemia. Minireview. , 2000, Neoplasma.

[62]  J. V. van Dongen,et al.  Terminal deoxynucleotidyl transferase (TdT)-positive cells in cerebrospinal fluid and development of overt CNS leukemia: a 5-year follow-up study in 113 children with a TdT-positive leukemia or non-Hodgkin's lymphoma. , 1989, Blood.

[63]  J. Higginson International Agency for Research on Cancer. , 1968, WHO chronicle.

[64]  G. Ehninger,et al.  Cancer Management and Research Dovepress Symptomatic Central Nervous System Involvement in Adult Patients with Acute Myeloid Leukemia , 2022 .