Page 251 - Haematologica Atlas of Hematologic Cytology

CHAPTER 31 - Inherited thrombocytopenias
Table 1 Main morphological features of peripheral blood and bone marrow cells in in in inherited thrombocytopenias
Gene/ Inheritance
Disorders
MYH9-related disease Bernard-Soulier syndrome biallelic
BSS monoallelic
Gray platelet syndrome ACTN1-related thrombocytopenia ITGA2B/ITGB3-related thrombocytopenia TUBB1-related thrombocytopenia GFI1b-related thrombocytopenia PRKACG-related thrombocytopenia FLI1-related thrombocytopenia TRPM7-related thrombocytopenia TPM4-related thrombocytopenia FLNA-related thrombocytopenia SRC-related thrombocytopenia DIAPH1-related thrombocytopenia GIANT PLATELETS
LARGE PLATELETS
Anomalies of blood cells/bone marrow Döhle-like bodies in PMN
Severe reduc on in PLT granules RBC anisopoikilocytosis/progressive BM brosis
Reduced PLT granules RBC anisocytosis Giant PLT granules PLT with reduced granules and abundant vacuoles
MYH9/AD
GPIBA GPIBB GP9/AR
GPIBA GPIBB GP9/AD
NBEAL2/AR
ACTN1/AD
ITGA2B ITGB3/AD
TUBB1/AD
GFI1B/AD
PRKACG/AR
FLI1/AR
TRPM7/AD
TPM4/AD
FLNA/XL
SRC/AD
DIAPH1/AD
NORMAL-SLIGTHY INCREASED PLATELET SIZE
GPIBA/AD
SLFN14/AD
THPO/AD
THPO/AR
Dele on in 11q23/AD
GATA1/XL
HOXA11 or MECOM/ AD
or AR ANKRD26/AD
RUNX1/AD
ETV6/AD
Platelet-type von Willebrand disease SLFN14-related thrombocytopenia THPO-related thrombocytopenia monoallelic
THPO-related thrombocytopenia biallelic
Paris-Trousseau thrombocytopenia GATA1-related disorders Radioulnar synostosis with amegakaryocy c c c thrombocytopenia Possible PLT clumps
Progression to BM aplasia
Giant PLT granules acuolated PLT RBC anysocytosis
Reduced/absent BM BM MKs Possible progression to BM BM aplasia
ANKRD26-related thrombocytopenia thrombocytopenia Reduced PLT granules/ dysmegkaryopoiesis Possible evolu on to MDS and AL Familial platelet disorder with propensity to to to to Dysmegkaryopoiesis Dysmegkaryopoiesis acute myelogenous leukemia ETV6-related thrombocytopenia CYCS-related thrombocytopenia FYB-related thrombocytopenia Wisko -Aldrich syndrome X-linked thrombocytopenia Thrombocytopenia-absent radius syndrome Congenital amegakaryocy c c c thrombocytopenia PTPRJ-related thrombocytopenia Reduced MKs Absent MKs Evolu on to BM aplasia
Possible evolu on to MDS and AL Dysmegkaryopoiesis Possible evolu on to MDS and AL NORMAL-SLIGTHY DECREASED PLATELET SIZE
CYCS/AD
FYB/AR
WAS/XL
RBM8A/AR
MPL/AR
PTPRJ/AR
PLT: platelets RBC: red blood cells PMN: polymorphonuclear leukocytes MKs: megakaryocytes BM: bone mar- row AL: acute leukemia MDS myelodysplas c c c c c c c syndromes AD: autosomal autosomal dominant AR: autosomal autosomal recessive XL: X-linked 238