Oncology

t(1;19)(q21 or 23;p13)
The t(1;19) or the der(19) from the t(1;19) rearrangement is almost exclusively observed in pre-B cell acute lymphocytic leukemia (ALL) with FAB-L1 morphology.  The t(1;19) ALL does not usually show extreme leukocytosis and suggests a relatively poor patient prognosis ...

t(8;21)(q22;q22)
The t(8;21) rearrangement is almost exclusively observed in acute nonlymphocytic leukemia (ANLL) and specifically in acute myloid leukemia (AML:FAB M2).  The t(8;21) is also associated with a large number of cells showing auer rods.  Additional chromosome changes are observed in over 75 percent of t(8;21) cases which also include the loss of a sex chromosome, a deleted 9q, trisomy 8, and monosomy 7.  The presence of the t(8;21) alone has been reported to indicate a relatively good patient  prognosis.

Inv(16)(p13q22)
Inversions of chromosome 16 and rearrangements involving band 16q22 are almost exclusively observed in acute nonlymphocytic leukemia, specifically acute myelomonocytic leukemia (AMMoL:FAB-M4eo). This chromosome abnormality is associated with increased numbers of immature eosinophils in the bone marrow and peripheral blood. Eosinophils may show some nuclear hypo-segmentation and positive PAS/PE staining. These patients have been reported to frequently develop CNS leukemia. The inversion of chromosome 16 or a band 16q22 abnormality is reported to be suggestive of a relatively good patient prognosis.

Inv(3)(q21q26),dup(3q),t(3q;3q)
Rearrangements of the chromosome 3 long arm, particularly in the q21/q26 band region, have been observed in acute nonlymphocytic leukemia (ANLL), chronic myelocytic leukemia(CML) and myelodysplastic syndromes. Thrombocytosis and abnormal megakaryocytopoiesis with the presence of micromegakaryocytes and hypolobulated nuclei are most often observed ...

t(15;17)(q22;q21 or12)
This translocation is a remarkably specific marker for acute promyelocytic leukemia (ANLL-M3).  This strong association is further exemplified by the fact that occasionally this translocation develops as a secondary aberration during CML blast transformation, with patients exhibiting disease characteristics indistinguishable from APL. Apart from these exceptional CML blast crisis patients, t(15;17) has not been detected in any malignancies other than ANLL-M3.  t(15;17) APL patients usually exhibit disseminated intravascular coagulation (DIC) and hyper- or micro-granulated promyelocytes.

+12
Trisomy of chromosome 12 is most frequently observed in B-cell chronic lymphocytic leukemia(CLL).  It has also been observed in other types of neoplasms.  As a single chromosome change, +12-CLL patients have been reported to have a relatively good prognosis, while +12-CLL patients with additional chromosome changes may suggest a relatively poor prognosis.

t(9;22)(q34;q11 or 12) Philadelphia Chromosome
The translocation between chromosome 9 and 22 yielding the Philadelphia chromosome (Ph1) is most consistent with chronic myelogenous (granulocytic) leukemia (CML), although it has also been observed in acute lymphocytic leukemia (ALL). In CML, the Ph1 is reported to indicate a relatively good prognosis, while in ALL it is associated with a relatively poor prognosis. The presence of chromosome changes in addition to the Ph1, e.g. +8, iso(17q),+9, +Ph1, is a indication of a blastic phase of CML and poor patient prognosis.

t(11;22)(q24;q12)
The t(11;22) is a relatively specific chromosome rearrangement found in over 80% of Ewings’ Sarcomas.  This rearrangement has also been described in neurogenic tumors such as peripheral neuroepithelioma, Askins’ tumor, and esthesioneuroblastoma.  Trisomy 8 is a common secondary chromosome change.

add(14)(q32) or 14q+
Additional chromosome material of unknown origin attached to band 14q32 has been observed in ALL and lymphoma.  It is also a relatively frequent finding in B-cell CLL, prolymphocytic leukemia, hairy cell leukemia, Waldenstroms macroglobulinemia, multiple myeloma, plasma cell leukemia, ATL, mycosis fungoides and Sezary’s syndrome.

t(8:14)(q24;q32) and t(2;8)(p12;q24)
Translocations between chromosomes 8 and 14 and 2 and 8 are observed in Burkitt’s non-Hodgkins lymphomas and B-cell ALL-L3.  In general, the t(2;8) and t(8;14) neoplasms are aggressive and associated with poor patient prognosis ...

Del(12)(p11) or (p11p13) or t(12)(p11)
Deletions and rearrangements involving the short arm of chromosome 12 are observed in a wide variety of neoplastic and preneoplastic disease.  These include secondary acute nonlymphocytic leukemia (ANLL), specifically secondary AML and acute lymphocytic leukemia (ALL:FAB-L1) ...

Del(20)(q11.2q13.3)
Deletions of the chromosome 20 long arm (20q) are most often observed in acute nonlymphocytic leukemia (ANLL), and myelodysplasic and myeloproliferative diseases, specifically polycythemia vera.  Additional chromosome changes such as trisomy 8 and 9, rearrangements of the chromosome 1 long arm and deleted 13q are also observed and are associated with transformation to acute leukemia.