Myeloid Leukemias
The Philadelphia Chromosome
derivative 22 from t(9;22) BCR::ABL1
This leukemia can be tested using magnetic beads to isolate the proliferated cell type
Multiple Myeloma
CD138 enrichment will isolate plasma cells
This rearrangement is indicative of High Grade Lymphoma
MYC/BCL2
This chromosome 2 inversion can be found in Lung Cancer and treated with a TKI
EML4-ALK
This is the most common chromosomal abnormality found in miscarriages
Trisomies (particularly 16)
Followed by Monosomy X, then triploidy
These are secondary findings of CML
i(17q), +8, +19
+8 is seen in the blast phase of 25% of CML patients
This translocation is commonly found in B-cell ALL
t(12;21)
Rearrangements in BCL2 and BCL6 are indicative of this lymphoma
Diffuse Large B-Cell Lymphoma
This is the treatment for HER2 amplification in breast cancer
Herceptin
In balanced translocations between the X chromosome and an autosome, this X is inactivated
The normal X because you do not want to inactivate the abnormal one
These mutations are commonly found in myeloproliferative neoplasms
+1q, +8, +9, del13q, del20q
+12 (intermediate prognosis) and del11q ATM (poor prognosis)
This translocation is indicative of Mantle Cell Lymphoma
t(11;14)
This is how hereditary retinobastoma presents
RB1 mutations presenting as multifocal and bilateral
This is the phenotype for a partial mole
abnormally small fetus, large placenta with hydropic villi, elevated AFP and hCG
These mutations have a good prognosis for myelodysplastic syndromes
del20q, del5q, delY
Intermediate prognosis is +8; Poor prognoses for chromosome 7 abnormalities and complex karyotypes
These chromosomes are common trisomies in hyperdiploid B-cell ALL
+4, +10, +17
This translocation is seen in Burkitt Lymphoma
t(8;14) MYC::IGH
40-50 year olds with no smoking history
These are three kinds of amplification (as discussed in the context of cancer)
double minutes (dmin; ex. EGFR), homogenously staining regions (hsr; ex. MYCN in neuroblastoma), ring chromosome
These translocations are diagnostic for AML without a high blast count and have good prognoses
t(8;21), inv(16) or t(16;16), t(15;17)
t(15;17) technically indicates APL and is treated with All-Trans Retinoic Acid
Name 3 mutations commonly found in Multiple Myeloma
t(4;14), t(11;14), t(14;16) all involving IGH; +1q21, -1p, -17p; hyperdiploidy
t(11;14) has a neutral prognosis; hyperdiploidy has a good prognoses
This translocation in Follicular Lymphoma needs FISH confirmation
t(14;18) IGH::BCL2
This translocation indicates Ewing Sarcoma
t(11;22)
Interpret this FISH result: nuc ish (ABL1,BCR)x3(ABL1 con BCRx2)[50/200]
dual color dual fusion probe showing a novel ABL1/BCR fusion in 50 cells
Philadelphia chromosome