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Programme
The Hong Kong Society of Haematology
Annual Scientific Meeting 2024
6 April 2024 (Saturday)
14:00 – 20:10
Meeting Rooms S221 – S230, 2/F, Hong Kong Convention and Exhibition Centre
In-person Participation
Germline predisposition to haematological malignancies
Inherited hematologic malignancies were first described in 1999, with the recognition that deleterious germline RUNX1 variants lead to lifelong thrombocytopenia, platelet aggregation defects, and an increased risk of developing hematopoietic malignancies (HMs). Since then, deleterious germline variants in many genes have been identified that predispose to aplastic anemia (AA) and/or bone marrow failure (BMF), including those associated with Diamond Blackfan anemia, Fanconi anemia, dyskeratosis congenita/ telomere biology disorders (TBDs), GATA2, SAMD9/SAMD9L, DCLRE1B, severe congenital neutropenia, and Shwachman Diamond Syndrome, among others. Today, these germline syndromes are recognized increasingly, as evidenced by the inclusion of inherited predisposition disorders within the diagnostic criteria of numerous classification schema as outlined by the World Health Organization, European LeukemiaNet, National Comprehensive Cancer Network, and the International Consensus Classification.
​Our group has sought to delineate the frequency with which deleterious germline variants cause BMF disorders, including myelodysplastic syndrome (MDS) and AA. We have shown that in those diagnosed at age 40 or younger, 19% of individuals with MDS/acute myeloid leukemia (AML) with prior history of MDS and 15% of those with AA have such alleles. In a more recent study, we collaborated with the Center for International Blood and Marrow Transplant Research to study paired peripheral blood samples from MDS patients across the entire age range of life and their related allogeneic hematopoietic cell transplant (HCT) donors. We used these samples to estimate that the frequency of deleterious germline predisposition alleles is at least 7%, and these positive cases were spread across the age spectrum. We know from work using a large cohort of children with MDS, LP/P germline variants in SAMD9/SAMD9L were identified 8% and in GATA2 in a mutually exclusive 7%. The age of presentation of MDS differed in these two genetic cohorts with SAMD9/SAMD9L prevalent in younger children and GATA2 more common in older children. Thus, the age at which MDS/AA is diagnosed is linked to the underlying biological pathway(s) driving hematopoietic cancers, with variants in genes encoding transcriptional regulators common in children, DNA repair and telomere biology genes dominating adulthood diseases, and DDX41 frequent in the elderly.
​In allogeneic HCT, these germline LP/P variants can have significant consequences. HCT involves cytoreductive conditioning followed by hematopoietic stem cell infusion from a healthy donor. LP/P variants in the donor or host could impact the success of HCT. Host variants could suffer more severe toxicity from the cytoreductive conditioning, harming the stromal cells necessary for engraftment of the donor cells, increasing the risk of graft failure and life-threatening infections. Similarly, donor LP/P variants could lead to graft failure or donor derived leukemia from hyperproliferation of few stem cells without appropriate repair mechanisms. Our group has shown that transplant recipients with P/LP germline variants in DDX41 develop severe graft versus host diseaseeven when wild-type donors are used unless they receive post-transplant cyclophosphamide. However, whether other poor outcomes after allogeneic HCT are also due to deleterious germline variants is unknown. Moreover, donors are not routinely screened for the presence of germline LP/P variants in genes linked to BMF or leukemias. Further research is needed to address whether a deleterious germline variant in the patient or donor predisposes to adverse outcomes after HCT.
Prof. Lucy GODLEY
Inaugural Director,
The Jeff and Marianne Silver Family Blood Cancer Institute,
Clinical Director of Cancer Genetics,
Robert H. Lurie Comprehensive Cancer Center,
Chicago, United States
Profile
Programme
12:00 - 14:00
Lunch
14:00 - 14:05
Opening remarks
Dr. LAW Man Fai
Session 1: Myelofibrosis
Chairpersons: Dr. LAW Man Fai, Dr. Gloria HWANG Yu Yan
14:05 - 14:35
Session 2: Amyloidosis
Chairpersons: Dr. LAW Man Fai, Dr. Gloria HWANG Yu Yan
14:40 - 15:10
Presidential symposium
Chairperson: Dr. LAW Man Fai
15:15 - 15:55
15:55 - 16:00
Outstanding new haematology fellow award presentation
16:00 - 16:05
Group photo
16:05 - 16:35
Break time (Posters & Exhibits)
Session 4: Lymphoma
Chairpersons: Dr. LAW Man Fai,
Dr. Vivien MAK Wai Man,
Dr. William CHOI Wai Lap
Session 5: Acute leukemia
Chairpersons: Dr. Gloria HWANG Yu Yan, Dr. HA Chung Yin,
Dr. Rosalina IP Ka Ling
16:35 - 17:05
17:10 - 17:40
Session 6: Paroxysmal nocturnal haemoglobinuria
Chairpersons: Dr. LAW Man Fai,
Dr. Vivien MAK Wai Man,
Dr. William CHOI Wai Lap
Session 7: Multiple myeloma
Chairpersons: Dr. Gloria HWANG Yu Yan, Dr. HA Chung Yin,
Dr. Rosalina IP Ka Ling
17:45 - 18:15
18:15 - 18:30
Break time (Posters & Exhibits)
Homecoming symposium
Chairperson: Dr. LAW Man Fai
18:30 - 19:00
Young fellow and best abstract presentation
Chairpersons: Dr. LAW Man Fai,
Dr. Rosalina IP Ka Ling
Nursing symposium
Session co-hosted by Hong Kong Haematology Nursing Association
19:05 – 19:15
19:15 – 19:25
19:25 – 19:35
19:35 – 19:45
19:45 – 19:55
19:55 – 20:05
Best abstract presentation
20:05 - 20:10
Closing remarks
Dr. LAW Man Fai
20:10 - 21:30
Dinner
Associated Organisation: Hong Kong Haematology Nursing’s Association
Co-hosted by: Association of Hong Kong Nursing Staff
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