Biologic and clinical presentations of patients with GATA2 mutations
| Patient ID no. . | GATA2 mutation . | Blood count before MDS/AML, median . | Karyotype . | Initial manifestation (age in y) . | Hematological complications, therapy outcome (age in y) . | Infections (age in y) . | Other features (age in y) . | Vital status (age at last follow-up, y) . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ANC, G/L . | ALC, G/L . | AMC, G/L . | Platelets, G/L . | Hb, g/dL . | ||||||||
| P1, II, 4 #6227 | R396Q c.1187G > A | 0.7 | 1 | 0.03 | 332 | 11.8 | Normal | Neutropenia during routine pregnancy test (23) | AML (35) | Recurrent gingivitis | 2 miscarriages | Dead (37) |
| Skin infections | ||||||||||||
| Refractory disease | Died of CMV infection (37) | |||||||||||
| P1, III, 2 #6165 | 1.6 | 0.8 | 0.07 | 262 | 12.5 | Normal | Severe pneumonia (16) | MDS (16) | Severe pneumonia (16) | Pulmonary embolism during pneumonia | Alive (18) | |
| Intermittent neutropenia | HSCT | Chronic EBV replication in gut pre-HSCT | Factor V Leyden | |||||||||
| P1, III, 3 #6225 | 2.0 | 2.6 | 0.03 | 332 | 12.8 | 47,XY,+11[1]/47,sl,der(7)(q32)[2]/ 47,sl,der(7)(7p?ter > 7q11::7q22q31)[14]/ 46,XY[1] | Bronchitis | AML (14) | Recurrent infections (bronchitis/pneumonia) since age of 12 | Inguinal hernia (1) | Alive (16) | |
| Thigh fibroma (3) | ||||||||||||
| Pneumonia (12) | HSCT | Factor V Leyden | ||||||||||
| P1, III, 5 #6224 | 1.3 | 1.7 | 0.36 | 180 | 11.1 | 45,XY,-7[17]/46,XY[4] | Routine evaluation | MDS (6) | Recurrent fever | Alive (7) | ||
| HSCT | Chronic EBV replication in blood | |||||||||||
| P2, II, 1 #6184 | A372T c.1114G > A | 1.2 | 0.2 | 0.02 | 92 | 9.9 | 45,XX,-7,t(11;19)(q23;p13.3)/47,idem,+15,+20 | AML (13) | AML (13) | Pulmonary aspergillosis | Dead (18) | |
| Skin lesions, recurrent oral HSV, gastrointestinal infections | ||||||||||||
| Chemotherapy | Died in CR related to H1N1 infection (18) | |||||||||||
| P3, II, 2 #5593 | M388V c.1162A > G | 1.8 | 0.3 | 0 | 163 | 11.6 | ND | Skin and genital HPV (14) | Surgery | Chronic genital HPV with oncogenic evolution | 2 healthy girls | Alive (54) |
| Warts (5) | ||||||||||||
| Severe pulmonary aspergillosis | Father with warts | |||||||||||
| Warts (5) | Chronic oral HSV, onychomycosis | Heart infarct (50) | ||||||||||
| P3,III, 3 #5834 | 1.2 | 2.2 | 0.04 | 84 | 11.2 | +8, −7q | Asthenia | MDS (13) | Skin infection (Staphylococcus aureus) | Alive (16) | ||
| Mild neutropenia | ||||||||||||
| Macrocytosis (13) | HSCT | |||||||||||
| P4, III, 1 #5758 | R330X c.988C > T | 1.4 | 1.3 | 0.04 | 148 | 14.5 | 46,XY,+1,der(1;7)(q10;p10),9qh+c[15]/46,XY[5] | Warts (6) | AML-M2 with dysplasia (17) | Died of aspergillosis in induction (18) | Dead (18) | |
| Routine evaluation (17) | Refractory disease | Warts (6) | ||||||||||
| P4, III, 2 #6331 | 1.7 | 1.1 | 0.02 | 154 | 13.5 | 46,XY,+1,der(1;7)(q10;p10)[2]/46,XY[9] | Warts (12) | MDS (19) | Warts (12) | Alive (21) | ||
| Routine evaluation (17) | HSCT | Recurrent bronchitis | ||||||||||
| P4, III, 3 #7109 | 1.9 | 2.3 | 0.17 | 180 | 12.2 | 46,XY[20] | Meningitis (15) | Meningitis (15) | Alive (19) | |||
| Routine evaluation (19) | ||||||||||||
| P4, II, 2 #7106 | 2.6 | 0.5 | 0.48 | 152 | 15 | 46,XY[20] | Routine evaluation (51) | Alive (56) | ||||
| P4, II, 3 #7107 | Not studied | 2.2 | 1.0 | 0.05 | 133 | 13.3 | ND | Profuse warts (31) | Warts (31) | Aortic dissection (36) | Dead (36) | |
| P5, II, 1 #5677 | R204X c.610C > T | 1.2 | 1 | 0.06 | 153 | 12.8 | 46,XX,der(9)t(1;9)(q12;q12), r(9)(q12q?34)[15]/46,XX [9] | Skin rash | AML (26) | Disseminated mycobacterial infection | Dead (27) | |
| Mild neutropenia and lymphopenia (20) | Refractory disease | Warts | ||||||||||
| P6, II, 2 #7015 | E224X c.670G > T | 1.1 | 1.5 | 0.28 | 148 | 12 | ND | Warts (4) | Warts (4) | Alive (17) | ||
| Mild neutropenia (11) | ||||||||||||
| P7, II, 1 #6183 | Complete deletion | 0.8 | 1 | 0.02 | 108 | 10.4 | 45,XX,-7[11]/45,idem,del(3)(p2?3)[3]/ 46,XX[1]/47,XX,+8[2]/46,XX[21] | Severe infection (12) | MDS (13) | Bacterial pneumonia | Urogenital tract malformations | Alive (15) |
| HSCT | Skin abscess | |||||||||||
| Patient ID no. . | GATA2 mutation . | Blood count before MDS/AML, median . | Karyotype . | Initial manifestation (age in y) . | Hematological complications, therapy outcome (age in y) . | Infections (age in y) . | Other features (age in y) . | Vital status (age at last follow-up, y) . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ANC, G/L . | ALC, G/L . | AMC, G/L . | Platelets, G/L . | Hb, g/dL . | ||||||||
| P1, II, 4 #6227 | R396Q c.1187G > A | 0.7 | 1 | 0.03 | 332 | 11.8 | Normal | Neutropenia during routine pregnancy test (23) | AML (35) | Recurrent gingivitis | 2 miscarriages | Dead (37) |
| Skin infections | ||||||||||||
| Refractory disease | Died of CMV infection (37) | |||||||||||
| P1, III, 2 #6165 | 1.6 | 0.8 | 0.07 | 262 | 12.5 | Normal | Severe pneumonia (16) | MDS (16) | Severe pneumonia (16) | Pulmonary embolism during pneumonia | Alive (18) | |
| Intermittent neutropenia | HSCT | Chronic EBV replication in gut pre-HSCT | Factor V Leyden | |||||||||
| P1, III, 3 #6225 | 2.0 | 2.6 | 0.03 | 332 | 12.8 | 47,XY,+11[1]/47,sl,der(7)(q32)[2]/ 47,sl,der(7)(7p?ter > 7q11::7q22q31)[14]/ 46,XY[1] | Bronchitis | AML (14) | Recurrent infections (bronchitis/pneumonia) since age of 12 | Inguinal hernia (1) | Alive (16) | |
| Thigh fibroma (3) | ||||||||||||
| Pneumonia (12) | HSCT | Factor V Leyden | ||||||||||
| P1, III, 5 #6224 | 1.3 | 1.7 | 0.36 | 180 | 11.1 | 45,XY,-7[17]/46,XY[4] | Routine evaluation | MDS (6) | Recurrent fever | Alive (7) | ||
| HSCT | Chronic EBV replication in blood | |||||||||||
| P2, II, 1 #6184 | A372T c.1114G > A | 1.2 | 0.2 | 0.02 | 92 | 9.9 | 45,XX,-7,t(11;19)(q23;p13.3)/47,idem,+15,+20 | AML (13) | AML (13) | Pulmonary aspergillosis | Dead (18) | |
| Skin lesions, recurrent oral HSV, gastrointestinal infections | ||||||||||||
| Chemotherapy | Died in CR related to H1N1 infection (18) | |||||||||||
| P3, II, 2 #5593 | M388V c.1162A > G | 1.8 | 0.3 | 0 | 163 | 11.6 | ND | Skin and genital HPV (14) | Surgery | Chronic genital HPV with oncogenic evolution | 2 healthy girls | Alive (54) |
| Warts (5) | ||||||||||||
| Severe pulmonary aspergillosis | Father with warts | |||||||||||
| Warts (5) | Chronic oral HSV, onychomycosis | Heart infarct (50) | ||||||||||
| P3,III, 3 #5834 | 1.2 | 2.2 | 0.04 | 84 | 11.2 | +8, −7q | Asthenia | MDS (13) | Skin infection (Staphylococcus aureus) | Alive (16) | ||
| Mild neutropenia | ||||||||||||
| Macrocytosis (13) | HSCT | |||||||||||
| P4, III, 1 #5758 | R330X c.988C > T | 1.4 | 1.3 | 0.04 | 148 | 14.5 | 46,XY,+1,der(1;7)(q10;p10),9qh+c[15]/46,XY[5] | Warts (6) | AML-M2 with dysplasia (17) | Died of aspergillosis in induction (18) | Dead (18) | |
| Routine evaluation (17) | Refractory disease | Warts (6) | ||||||||||
| P4, III, 2 #6331 | 1.7 | 1.1 | 0.02 | 154 | 13.5 | 46,XY,+1,der(1;7)(q10;p10)[2]/46,XY[9] | Warts (12) | MDS (19) | Warts (12) | Alive (21) | ||
| Routine evaluation (17) | HSCT | Recurrent bronchitis | ||||||||||
| P4, III, 3 #7109 | 1.9 | 2.3 | 0.17 | 180 | 12.2 | 46,XY[20] | Meningitis (15) | Meningitis (15) | Alive (19) | |||
| Routine evaluation (19) | ||||||||||||
| P4, II, 2 #7106 | 2.6 | 0.5 | 0.48 | 152 | 15 | 46,XY[20] | Routine evaluation (51) | Alive (56) | ||||
| P4, II, 3 #7107 | Not studied | 2.2 | 1.0 | 0.05 | 133 | 13.3 | ND | Profuse warts (31) | Warts (31) | Aortic dissection (36) | Dead (36) | |
| P5, II, 1 #5677 | R204X c.610C > T | 1.2 | 1 | 0.06 | 153 | 12.8 | 46,XX,der(9)t(1;9)(q12;q12), r(9)(q12q?34)[15]/46,XX [9] | Skin rash | AML (26) | Disseminated mycobacterial infection | Dead (27) | |
| Mild neutropenia and lymphopenia (20) | Refractory disease | Warts | ||||||||||
| P6, II, 2 #7015 | E224X c.670G > T | 1.1 | 1.5 | 0.28 | 148 | 12 | ND | Warts (4) | Warts (4) | Alive (17) | ||
| Mild neutropenia (11) | ||||||||||||
| P7, II, 1 #6183 | Complete deletion | 0.8 | 1 | 0.02 | 108 | 10.4 | 45,XX,-7[11]/45,idem,del(3)(p2?3)[3]/ 46,XX[1]/47,XX,+8[2]/46,XX[21] | Severe infection (12) | MDS (13) | Bacterial pneumonia | Urogenital tract malformations | Alive (15) |
| HSCT | Skin abscess | |||||||||||
GATA2 mutations are indicated as protein (first line) or nucleotide (second line) variations. Complete blood count was collected during routine at baseline before HSCT in absence of clonal hematopoiesis.
ANC indicates absolute neutrophil count; ALC, absolute lymphocyte count; AMC, absolute monocyte count; Hb, hemoglobin; HSCT, hematopoietic stem cell transplantation; MDS, myelodysplastic syndrome; AML, acute myeloid leukemia; CR, complete remission; and HPV, human papillomavirus.