ASH News Daily 2016 - Issue 1 - A-18


ASH News Daily

Page A-18

Malignancies
«« From Page A-1

malignancies, usually of myeloid
origin. Catching these can be difficult because of "a misdiagnosis of
'ITP' in many cases," said Dr. Brown.
Individual themes explored ranged
from platelet electron microscopy
to disease modeling. Check out
abstracts #3926, #2693, #1085, and
#1212 for more on these topics.
Distinct in presentation from
the familial platelet disorders are
a group of germline mutations including those in DDX41 and CEPBA
that lead to (mostly) myeloid malignancies not presaged by platelet

defects. Drs. Jude Fitzgibbon and
Jaroslaw Maciejewski introduced
a panel of speakers who covered
topics including germline exome
sequencing in homogeneous populations (eg, Finland), how to suspect
and detect genetic predisposition
in the absence of a family history,
case-control study design, a kindred
with very long-term follow-up (45
years!), and an analysis of leukemogenic germline alleles present in
adult MDS.
The prototypical transcription
factor GATA2 is critical in both embryonic stem cells and hematopoiesis. It is no surprise, then, that a
mutant GATA2 has protean mani-

Hematology Crossword Puzzle

festations and warranted its own
session yesterday. The third session,
chaired by Drs. Marcin Wlodarski
and Charlotte Niemeyer, focused
entirely on the varied inactivating mutations in GATA2 and the
syndromes these induced, including the lymphoid MonoMAC syndrome and familial myelodysplastic
syndromes and AML. Overall, the
speakers focused on the biology of
these diseases, including diversity
of presentation and variability of
penetrance, as well as the promise
of allogeneic transplantation.
While elephants are blessed with
20 copies of TP53, that most famous
tumor suppressor, we humans have

- Created by David Steensma, MD -

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Saturday, December 3, 2016

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a measly single copy and a greater
chance of developing cancer. Drs.
Michael Walsh and Charles Mullighan introduced a panel of speakers that explored inherited TP53
mutations and shared predispositions for lymphoma, myeloid cancers, and solid tumors. Dr. Anna
Brown reminded us that "a careful
family history should be taken of
all patients...and a family history of
multiple individuals with hematological malignancy, even of different
subtypes or ages of onset, should
trigger a high index of suspicion to
investigate for a shared germline
component."
The final session, led by Drs.
Akiko Shimamura and Courtney
DiNardo, covered heritable bone
marrow failure syndromes and was
full of great new material. While
many are familiar with ribosomopathies and telomeropathic mutations,
attendees heard about the actual
pathogenic mechanisms and potential treatments of these diseases. Dr.
Bartek Przychodzen took an entirely different approach, and instead
started with adult patients with
aplastic anemia and myelodysplastic syndromes, performing broad
and targeted sequencing to search
for inherited pathogenic variants
that could be causal.
The long afternoon concluded
with a pedigree review and discussion. If you missed this workshop,
these topics will be explored further
later today in an education session
on "Genetic Susceptibility to Leukemias" at 2:00 p.m. in the Marriott Grand Ballroom, and once more
on Monday at 2:45 p.m. in Grand
Hall D in the Manchester Grand
Hyatt. In the words of Dr. Fitzgibbon, "we're in the right car, on the
right road, and headed in the right
direction for familial leukemias."
Dr. Blachly has no relevant conflicts
of interest.

Attendees traverse the convention
center lobby on Friday.



Table of Contents for the Digital Edition of ASH News Daily 2016 - Issue 1

Contents
ASH News Daily 2016 - Issue 1 - A-1
ASH News Daily 2016 - Issue 1 - A-2
ASH News Daily 2016 - Issue 1 - A-3
ASH News Daily 2016 - Issue 1 - A-4
ASH News Daily 2016 - Issue 1 - A-5
ASH News Daily 2016 - Issue 1 - A-6
ASH News Daily 2016 - Issue 1 - A-7
ASH News Daily 2016 - Issue 1 - A-8
ASH News Daily 2016 - Issue 1 - A-9
ASH News Daily 2016 - Issue 1 - A-10
ASH News Daily 2016 - Issue 1 - A-11
ASH News Daily 2016 - Issue 1 - A-12
ASH News Daily 2016 - Issue 1 - A-13
ASH News Daily 2016 - Issue 1 - A-14
ASH News Daily 2016 - Issue 1 - A-15
ASH News Daily 2016 - Issue 1 - A-16
ASH News Daily 2016 - Issue 1 - A-17
ASH News Daily 2016 - Issue 1 - A-18
ASH News Daily 2016 - Issue 1 - A-19
ASH News Daily 2016 - Issue 1 - A-20
ASH News Daily 2016 - Issue 1 - A-21
ASH News Daily 2016 - Issue 1 - A-22
ASH News Daily 2016 - Issue 1 - A-23
ASH News Daily 2016 - Issue 1 - A-24
ASH News Daily 2016 - Issue 1 - A-25
ASH News Daily 2016 - Issue 1 - A-26
ASH News Daily 2016 - Issue 1 - Contents
ASH News Daily 2016 - Issue 1 - B-2
ASH News Daily 2016 - Issue 1 - B-3
ASH News Daily 2016 - Issue 1 - B-4
ASH News Daily 2016 - Issue 1 - B-5
ASH News Daily 2016 - Issue 1 - B-6
ASH News Daily 2016 - Issue 1 - B-7
ASH News Daily 2016 - Issue 1 - B-8
ASH News Daily 2016 - Issue 1 - B-9
ASH News Daily 2016 - Issue 1 - B-10
ASH News Daily 2016 - Issue 1 - B-11
ASH News Daily 2016 - Issue 1 - B-12
ASH News Daily 2016 - Issue 1 - B-13
ASH News Daily 2016 - Issue 1 - B-14
ASH News Daily 2016 - Issue 1 - B-15
ASH News Daily 2016 - Issue 1 - B-16
ASH News Daily 2016 - Issue 1 - B-17
ASH News Daily 2016 - Issue 1 - B-18
ASH News Daily 2016 - Issue 1 - B-19
ASH News Daily 2016 - Issue 1 - B-20
ASH News Daily 2016 - Issue 1 - B-21
ASH News Daily 2016 - Issue 1 - B-22
ASH News Daily 2016 - Issue 1 - B-23
ASH News Daily 2016 - Issue 1 - B-24
ASH News Daily 2016 - Issue 1 - B-25
ASH News Daily 2016 - Issue 1 - B-26
ASH News Daily 2016 - Issue 1 - B-27
ASH News Daily 2016 - Issue 1 - B-28
ASH News Daily 2016 - Issue 1 - B-29
ASH News Daily 2016 - Issue 1 - B-30
ASH News Daily 2016 - Issue 1 - B-31
ASH News Daily 2016 - Issue 1 - B-32
ASH News Daily 2016 - Issue 1 - B-33
ASH News Daily 2016 - Issue 1 - B-34
ASH News Daily 2016 - Issue 1 - B-35
ASH News Daily 2016 - Issue 1 - B-36
ASH News Daily 2016 - Issue 1 - B-37
ASH News Daily 2016 - Issue 1 - B-38
ASH News Daily 2016 - Issue 1 - B-39
ASH News Daily 2016 - Issue 1 - B-40
ASH News Daily 2016 - Issue 1 - B-41
ASH News Daily 2016 - Issue 1 - B-42
ASH News Daily 2016 - Issue 1 - B-43
ASH News Daily 2016 - Issue 1 - B-44
ASH News Daily 2016 - Issue 1 - B-45
ASH News Daily 2016 - Issue 1 - B-46
ASH News Daily 2016 - Issue 1 - B-47
ASH News Daily 2016 - Issue 1 - B-48
ASH News Daily 2016 - Issue 1 - C-1
ASH News Daily 2016 - Issue 1 - C-2
ASH News Daily 2016 - Issue 1 - C-3
ASH News Daily 2016 - Issue 1 - C-4
ASH News Daily 2016 - Issue 1 - C-5
ASH News Daily 2016 - Issue 1 - C-6
ASH News Daily 2016 - Issue 1 - C-7
ASH News Daily 2016 - Issue 1 - C-8
ASH News Daily 2016 - Issue 1 - C-9
ASH News Daily 2016 - Issue 1 - C-10
ASH News Daily 2016 - Issue 1 - C-11
ASH News Daily 2016 - Issue 1 - C-12
ASH News Daily 2016 - Issue 1 - C-13
ASH News Daily 2016 - Issue 1 - C-14
ASH News Daily 2016 - Issue 1 - C-15
ASH News Daily 2016 - Issue 1 - C-16
ASH News Daily 2016 - Issue 1 - C-17
ASH News Daily 2016 - Issue 1 - C-18
ASH News Daily 2016 - Issue 1 - C-19
ASH News Daily 2016 - Issue 1 - C-20
ASH News Daily 2016 - Issue 1 - C-21
ASH News Daily 2016 - Issue 1 - C-22
ASH News Daily 2016 - Issue 1 - C-23
ASH News Daily 2016 - Issue 1 - C-24
ASH News Daily 2016 - Issue 1 - C-25
ASH News Daily 2016 - Issue 1 - C-26
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