Characteristics of FAT1 mutations and FAT1 mutated cases
| Sample ID . | FR_CLL-1 . | FR_CLL-8 . | FR-CLL_13931 . | FR-CLL_4380 . | FR-CLL_6496 . | FR-CLL_6012 . |
|---|---|---|---|---|---|---|
| Panel | Discovery | Discovery | Screening | Screening | Screening | Screening |
| Timing of refractoriness | Acquired | Primary | Acquired | Acquired | Acquired | Primary |
| Gender | Female | Female | Male | Female | Male | Male |
| Age, years | 75 | 48 | 78 | 76 | 80 | 82 |
| Binet stage | B | B | C | C | B | B |
| Lymphocytes | 26.4 | 142.0 | 21.6 | 21.0 | 30.8 | 13.7 |
| CD5+/CD19+ | 80% | 95% | 90% | 98% | 90% | 95% |
| IGHV | 3-49*03 | 1-46*01 | 3-30*01 | 4-59*01 | 4-39*01 | 4-34*02 |
| IGHD | 3-10*01 | 3-22*01 | 3-22*01 | NA | 6-13*01 | 6-13*01 |
| IGHJ | 1*01 | 1*01 | 4*02 | 6*03 | 5*02 | 4*02 |
| IGHV homology | 98.09 | 88.50 | 100.00 | 98.09 | 100.00 | 95.43 |
| IGHV status | UM | M | UM | UM | UM | M |
| FISH | del11q22-23; del13q14 | +12 | del17p13; del11q22-q23; del13q14 | +12; del17p13 | +12 | del17p13; del13q14 |
| TP53 mutational status | WT | WT | M | WT | WT | M |
| NOTCH1 mutational status | WT | M | M | WT | M | WT |
| SF3B1 mutational status | M | WT | WT | WT | WT | WT |
| BIRC3 disruption | WT | WT | WT | WT | M | WT |
| MYD88 mutational status | WT | WT | WT | WT | WT | WT |
| CD38 | N | P | P | N | P | N |
| ZAP70 | N | N | P | P | NA | N |
| Matutes score | 5 | 4 | 5 | 4 | 5 | 5 |
| AA change | G1331S | Y3162H | L1246R | G4567R | R1856C | E3260A |
| Domain | Cadherin 11 | Cadherin 29 | Cadherin 11 | Intracytoplasmic | Cadherin 16 | Cadherin 30 |
| PolyPhen-2 class | Deleterious | Deleterious | Deleterious | Deleterious | Deleterious | Deleterious |
| PolyPhen-2 probability | 1 | 0.997 | 0.998 | 1 | 1 | 0.96 |
| Sample ID . | FR_CLL-1 . | FR_CLL-8 . | FR-CLL_13931 . | FR-CLL_4380 . | FR-CLL_6496 . | FR-CLL_6012 . |
|---|---|---|---|---|---|---|
| Panel | Discovery | Discovery | Screening | Screening | Screening | Screening |
| Timing of refractoriness | Acquired | Primary | Acquired | Acquired | Acquired | Primary |
| Gender | Female | Female | Male | Female | Male | Male |
| Age, years | 75 | 48 | 78 | 76 | 80 | 82 |
| Binet stage | B | B | C | C | B | B |
| Lymphocytes | 26.4 | 142.0 | 21.6 | 21.0 | 30.8 | 13.7 |
| CD5+/CD19+ | 80% | 95% | 90% | 98% | 90% | 95% |
| IGHV | 3-49*03 | 1-46*01 | 3-30*01 | 4-59*01 | 4-39*01 | 4-34*02 |
| IGHD | 3-10*01 | 3-22*01 | 3-22*01 | NA | 6-13*01 | 6-13*01 |
| IGHJ | 1*01 | 1*01 | 4*02 | 6*03 | 5*02 | 4*02 |
| IGHV homology | 98.09 | 88.50 | 100.00 | 98.09 | 100.00 | 95.43 |
| IGHV status | UM | M | UM | UM | UM | M |
| FISH | del11q22-23; del13q14 | +12 | del17p13; del11q22-q23; del13q14 | +12; del17p13 | +12 | del17p13; del13q14 |
| TP53 mutational status | WT | WT | M | WT | WT | M |
| NOTCH1 mutational status | WT | M | M | WT | M | WT |
| SF3B1 mutational status | M | WT | WT | WT | WT | WT |
| BIRC3 disruption | WT | WT | WT | WT | M | WT |
| MYD88 mutational status | WT | WT | WT | WT | WT | WT |
| CD38 | N | P | P | N | P | N |
| ZAP70 | N | N | P | P | NA | N |
| Matutes score | 5 | 4 | 5 | 4 | 5 | 5 |
| AA change | G1331S | Y3162H | L1246R | G4567R | R1856C | E3260A |
| Domain | Cadherin 11 | Cadherin 29 | Cadherin 11 | Intracytoplasmic | Cadherin 16 | Cadherin 30 |
| PolyPhen-2 class | Deleterious | Deleterious | Deleterious | Deleterious | Deleterious | Deleterious |
| PolyPhen-2 probability | 1 | 0.997 | 0.998 | 1 | 1 | 0.96 |
M, mutated; N, negative; NA, not available; P, positive; UM, unmutated.