CHRONIC MYELOID LEUKAEMIA EXTRAMEDULLARY LYMPHOID BLAST CRISIS PRESENTING
POSTER 44
AS RENAL LYMPHOBLASTIC LYMPHOMA
Ana Vagos Mata1, Guilherme Sapinho1, Catarina Quadros2, Daniela Alves1, Isabel Pereira1, Júlia
Medeiros1, Helena Martins1, Joana Trindade3, Natália Salgueiro3, Cristina Ferreira2, João
Raposo1, Graça Esteves1
(1)Department of Hematology and Bone Marrow Transplant, Hospital Santa Maria, Centro Hospitalar
Universitário Lisboa Norte, Lisbon, Portugal;
(2) Department of Pathology, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa
Norte, Lisbon, Portugal,
(3) Synlab Health - Genética Médica, Molecular Biology and Cytogenetics, Oporto, Portugal
Objectives: To highlight the rarity of extramedullary blast crisis in chronic myeloid leukaemia (CML),
specially with lymphoid phenotype, and to share the challenge of treating these patients.
Methods: Retrospective review of a clinical case, based on clinical registries and laboratory findings.
Molecular response was evaluated through transcript quantification by RT-PCR. Imaging techniques
used to diagnosis and response evaluation were CT-scan and ultrasound.
Results: We present a case of a patient who was diagnosed in 2008 with chronic myeloid leukaemia
(CML), BCR/ABL1 + (p210), chronic phase, low SOKAL relative risk. He was 47 years old back then,
otherwise healthy. He started on Imatinib 400mg per day and achieved major molecular response
(MMR) in 6 months, reaching a deep major molecular response (MMR4) one and a half years later. He
maintained MMR until November 2019, when 0.26% of p210 transcripts are detected in bone
marrow sample. He maintained complete haematological response. A month later he describes B
symptoms and back pain, and a full body CT scan shows bilateral renal masses. Renal mass biopsy
shows infiltration by lymphoblastic lymphoma, with 80% of cells showing BCR/ABL translocation. CT
scan showed no other masses, lymphadenopathies or organomegalies. Head CT scan showed no
intracranial masses and lumbar puncture was free of malignant cells. Ophthalmology assessment
excluded ocular involvement and testicular ultrasound also showed no signs of disease. No clonal
evolution or TKI resistance inducing mutations were documented on bone marrow sample.
Unfortunately, such analysis won’t be able to be performed in renal biopsy for technical limitations.
We concluded for the rare diagnosis of CML extramedullary lymphoid blast crisis and started
induction therapy with HyperC-VAD plus Dasatinib (140mg per day) as a bridge therapy for allogeneic
stem cell transplant (Allo-STC). Donor search is currently on going. He just finished the first
chemotherapy cycle and we are waiting for CT scan and bone marrow sample for response
evaluation.
Conclusions: CML lymphoid blast crisis accounts for 20-30% of all blast crisis. The extramedullary
presentation is even rarer, accounting for 7-17% of all the blast phases. Extramedullary blast crisis
presents mainly in lymph nodes, central nervous system, skin, spleen and bone, but virtually can
reach any organ or tissue. It usually precedes systemic blast crisis. Without Allo-SCT median overall
survival reaches 17 months, so prompt evaluation, diagnosis and treatment are urgent.
SCIENTIFIC
PROGRAMME
RARE SUBSETS OF
ACUTE LEUKAEMIA
TRACKING LEUKAEMIC
STEM CELLS (LSCs)
ROUTINE DIAGNOSIS
GENE EXPRESSION
AND MUTATIONAL
PROFILING
DEBATE 1 – ALL
PATIENTS WITH
INTERMEDIATE-RISK
AML MUST BE
TRANSPLANTED
INTERACTIVE
CASES 1 – MUTATION-BASED
THERAPY
OFF-LABEL
ROUNDTABLE –
SHOULD WE REALLY
USE NEW TARGETED
INHIBITORS AS SINGLE
AGENTS ?
ADDITION OF A 3RD
AGENT TO FRONTLINE
7+3
ROUNDTABLE –
CURATIVE OPTIONS
FOR OLDER AML
INTERACTIVE CASES 2
DEBATE 2 - BEST
TREATMENT FOR
NPM1-MUTATED AML IN
THE NEXT FUTURE ?
ALLOGENEIC
HAEMATOPOIETIC
STEM CELL
TRANSPLANTATION
(HSCT)
IMMUNOTHERAPY FOR
ACUTE LEUKAEMIA
DEBATE 3 - T-ALL:
WHERE ARE WE GOING
NOW?
SELECTED ABSTRACTS
AND CLINICAL
CASES FOR AN ORAL
PRESENTATION
SELECTED ABSTRACTS
FOR A POSTER
PRESENTATION
DISCLOSURES