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FISH Library
| Disease | Probe | Location | Clinical Utility | Prognosis |
| Acute myeloblastic leukemia with maturation (AML-M2) | AML1/ETO | t(8;21) | Diagnostic for AML-M2. Found in about 5–12% of AML patients. Usually associated with a favorable response to chemotherapy. Occurs predominantly in young adults. | F |
| Acute myeloblastic leukemia without maturation (AML-M1) | BCR/ABL | t(9;22) | Unfavorable prognosis. Occurs in M1, M2 and CML and ALL cases. Detected in about 10–20% of AML patients. | P |
| Acute Myelogenous Leukemia with Multilineage Dysplasia | -5/5q- | 5q33-q34 | Among the most frequent cytogenetic abnormalities in leukemia and MDS. Occurs in up to 50% of patients with AML arising secondary to MDS or to prior chemotherapy. –5 is usually associated with an unfavorable response to chemotherapy, while 5q- has a favorable prognosis. | -5=P, 5Q=F |
| Acute Myelogenous Leukemia with Multilineage Dysplasia | -7/7q- | 7q31 | Usually associated with an unfavorable response to chemotherapy. | P |
| Acute Myelogenous Leukemia with Multilineage Dysplasia | 20q12 | 20q- | Diagnostic for AML and MDS, depending upon the blast count in the appropriate clinical context. Also found in other myeloid malignancies. Usually associated with a favorableresponse to chemotherapy. | F |
| Acute Myelogenous Leukemia with Multilineage Dysplasia | Trisomy 8 | 8 | Diagnostic for AML and MDS, depending upon the blast count in the appropriate clinical context. Also found in other myeloid malignancies. Intermediate-to-poor prognosis. | I/P |
| Acute Myelomonocytic Leukemia (AML-M4) and Acute Monocytic Leukemia (AML-M5) | MLL | t(11q23) | There are numerous variant translocations of 11q23, the more common of which are associated with therapy-related AML, AML-M4 and M5, and have an intermediate prognosis. | I |
| Acute Myelomonocytic Leukemia with Eosinophilia (AML-M4Eo) | CBFB | inv(16) | Diagnostic for AML-M4Eo. Detected in about 10–12% of AML patients.Usually associated with a favorable response to chemotherapy. | F |
| Acute Promyelocytic Leukemia (AML-M3) | PML/RARA | t(15;17) | "Diagnostic for AML-M3. Detected in about 5–8% of AML patients. Treatment withall-trans retinoic acid (ATRA) and other chemotherapy agents, can induce maturation."Usually associated with a favorable response to chemotherapy. | F |
| B-Cell Acute Lymphocytic Leukemia | BCR/ABL | t(9;22) | Unfavorable prognosis, especially if accompanied by monosomy 7. Detectable in 20–35%of adult, 5% of childhood ALL patients. | P |
| B-Cell Acute Lymphocytic Leukemia | IGH/BCL2 | t(14;18) | Some cases of B-cell ALL exhibit lymphoma-like features and particular karyotypic abnormalities such as 6q-, 14q+, t(11;14), or t(14;18). | N/A |
| B-Cell Acute Lymphocytic Leukemia | Trisomy 8 | 8 | Usually observed as a secondary chromosomal change. | N/A |
| B-Cell Acute Lymphocytic Leukemia | MLL | t(11q23) | Detected in 50-80% of infant leukemia & 15% of adult ALL. Usually associated with a poor prognosis, regardless of age. | P |
| Bladder Cancer (UroVysion®) | Chromosome 3 | 3 | The UroVysion® bladder cancer assay detects aneuploidy for chromosomes 3, 7, 17 and loss of the 9p21 locus as an aid both in initial diagnosis and for monitoring tumor recurrence. | N/A |
| Bladder Cancer (UroVysion®) | Chromosome 7 | 7 | The UroVysion® bladder cancer assay detects aneuploidy for chromosomes 3, 7, 17 and loss of the 9p21 locus as an aid both in initial diagnosis and for monitoring tumor recurrence. | |
| Bladder Cancer (UroVysion®) | Chromosome 17 | 17 | The UroVysion® bladder cancer assay detects aneuploidy for chromosomes 3, 7, 17 and loss of the 9p21 locus as an aid both in initial diagnosis and for monitoring tumor recurrence. | |
| Bladder Cancer (UroVysion®) | 9p21 | 9p21- | The UroVysion® bladder cancer assay detects aneuploidy for chromosomes 3, 7, 17 and loss of the 9p21 locus as an aid both in initial diagnosis and for monitoring tumor recurrence. | |
| Bladder Cancer (UroVysion®) | 9p21 | 9p21- | The UroVysion® bladder cancer assay detects aneuploidy for chromosomes 3, 7, 17 and loss of the 9p21 locus as an aid both in initial diagnosis and for monitoring tumor recurrence. | |
| BONE MARROW TRANSPLANT | X/Y | X and Y | For identification and monitoring of sex-mismatched bone marrow transplants. | N/A |
| Breast Cancer | HER2 | 17q | Prognostic for amplification/overexpression of HER2. Stratifies patients for Herceptin® therapy. Associated with an unfavorable clinical outcome. | P |
| Breast Cancer | p53 | 17p13 | Loss, mutation or amplification of the tumor suppressor gene, p53, is found in a widevariety of cancers, including lung, colon and breast. Patients with tumors with high levels of p53 have a poor response to conventional chemotherapy. | P |
| Burkitt Lymphoma/Leukemia | Trisomy 8 | 8 | Trisomy 8 is considered to represent an unfavorable prognostic group. | P |
| Burkitt Lymphoma/Leukemia | MYC/IGH | t(8;14) | Found in most, if not all, of Burkitt lymphomas/leukemias. | N/A |
| Chronic Lymphocytic Leukemia (CLL) | Trisomy 12 | 12 | Found in about 20% of CLL/SLL cases. Usually associated with an unfavorable response to chemotherapy and a predominantly unmutated IgVH gene status. | P |
| Chronic Lymphocytic Leukemia (CLL) | D13S319 | 13q14.3 | Deletions involving 13q14 are detectable by FISH in approximately 50% of persons with CLL. This deletion is associated with a favorable clinical outcome. | F |
| Chronic Lymphocytic Leukemia (CLL) | ATM | 11q22.3 | Mutations of the ataxia-telangiectasia gene (ATM) are seen in 10-20% of B-cell CLL and are associated with a relatively aggressive disease course and poorer prognosis. | P |
| Chronic Lymphocytic Leukemia (CLL) | p53 | 17p13 | Monosomy is usually associated with an unfavorable response to chemotherapy. | P |
| Chronic Myelogenous Leukemia (CML) | BCR/ABL | t(9;22) | Diagnostic for CML and also seen in a subset of ALL and AML. In adult ALL and AML,usually associated with an unfavorable response to chemotherapy. | P |
| Diffuse Large B-Cell Lymphoma (DLBCL) | BCL6 | 3q27 | Found in up to 35% of DLBCL and 6–14% of follicular lymphoma (FL). | N/A |
| Diffuse Large B-Cell Lymphoma (DLBCL) | IGH/BCL2 | t(14;18) | Found in 15–30% of DLBCL. | N/A |
| Follicular Lymphoma (FL) | BCL6 | 3q27 | Seen in follicular lymphoma (FL) and DLBCL. FL with BCL6 translocation suggests a subgroup prone to early transformation to a more aggressive lymphoma (DLBCL). | VARIES |
| Follicular Lymphoma (FL) | IGH/BCL2 | t(14;18) | Found in 85–90% of FL. Diagnostic for B-cell lymphoma of follicle center cell origin. | N/A |
| Idiopathic Myelofibrosis | -5/5q- | 5q33-q34 | May be seen in about 20% of IM cases with chromosomal abnormalities.Usually associated with an unfavorable prognosis. | P |
| Idiopathic Myelofibrosis | -7/7q- | 7q31 | May be seen in about 20% of IM cases with chromosomal abnormalities.Usually associated with an unfavorable prognosis. | P |
| Idiopathic Myelofibrosis | Trisomy 8 | 8 | May be seen in about 20% of IM cases with chromosomal abnormalities. | N/A |
| Mantle Cell Lymphoma (MCL) | IGH/CCND1 | t(11;14) | Diagnostic for Mantle Cell Lymphoma in the appropriate clinical context. | N/A |
| MDS | Trisomy 8 | 8 | Diagnostic for MDS in the appropriate clinical context and is usually associated with an intermediate prognosis. | I |
| MDS | -5/5q- | 5q33-q34 | 5q- is found in 10–15% of MDS and, is associated with a favorable response to chemotherapyif it is the sole abnormality. The “5q- syndrome” also has a favorable prognosis. A completedeletion of chromosome 5 (-5) is usually associated with an unfavorable prognosis. Lenalidomide (Revlimid®) may reduce transfusion requirements and reverse cytologic and cytogenetic abnormalities in these patients. | VARIES |
| MDS | -7/7q- | 7q31 | The most common abnormality in pediatric MDS. Usually associated with an unfavorable response to chemotherapy. | P |
| MDS | 20q12 | 20q- | A chromosomal 20q deletion is associated with about 5% of primary MDSand confers a relatively favorable prognosis. | F |
| MDS | p53 | 17p13 | Monosomy is usually found in transformation to AML and is associated withan unfavorable response to chemotherapy. | P |
| MDS | MLL | t(11q23) | Usually associated with an unfavorable response to chemotherapy. Refer to AML-M4/M5 section for additional information. | P |
| Plasma Cell Myeloma (MM) | RB1 | 13q14 del | Deletion of 13q14 can be seen in 15–40% of newly diagnosed cases of plasma cell myeloma and is an independent adverse prognostic variable, despite its relative frequency. | P |
| Plasma Cell Myeloma (MM) | IGH/CCND1 | t(11;14) & | Trisomy 11 and/or t(11;14) is associated with cyclin D1 overexpression and is a favorable prognostic variable for newly diagnosed plasma cell myeloma patients treated with highdose chemotherapy or autologous transplantation. | F |
| Plasma Cell Myeloma (MM) | p53 | 17p13 | Monosomy is found in almost 33% of newly diagnosed MM. Usually associated with an unfavorable response to chemotherapy. | P |
| Plasma Cell Myeloma (MM) | RB1 | 13q14 del | Deletion of 13q14 can be seen in 15–40% of newly diagnosed cases of plasma cell myeloma and is an independent adverse prognostic variable, despite its relative frequency. | P |
| Polycythemia Vera | Trisomy 8 | 8 | May be seen in about 20% of PV cases with chromosomal abnormalities. | N/A |
| Polycythemia Vera | 20q12 | 20q- | May be seen in about 20% of PV cases with chromosomal abnormalities. | N/A |
| Polycythemia Vera | RB1 | 13q14 del | May be seen in about 10% of PV cases with chromosomal abnormalities. | N/A |
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