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1.  Acute myeloid leukemia with t(7;21)(p22;q22) and 5q deletion: a case report and literature review 
The gene RUNX1 at chromosome 21q22 encodes the alpha subunit of Core binding factor (CBF), a heterodimeric transcription factor involved in the development of normal hematopoiesis. Translocations of RUNX1 are seen in several types of leukemia with at least 21 identified partner genes. The cryptic t(7;21)(p22;q22) rearrangement involving the USP42 gene appears to be a specific and recurrent cytogenetic abnormality. Eight of the 9 cases identified in the literature with this translocation were associated with acute myeloid leukemia (AML), with the remaining case showing refractory anemia with excess blasts, type 2. Herein, we present a patient with two preceding years of leukopenia and one year of anemia prior to the diagnosis of AML, NOS with monocytic differentiation (myelomonocytic leukemia) whose conventional cytogenetics showed an abnormal clone with 5q deletion. Interphase FISH using LSI RUNX1/RUNXT1 showed three signals for RUNX1. FISH studies on previously G-banded metaphases showed the extra RUNX1 signal on the short arm of chromosome 7. Further characterization using the subtelomeric 7p probe showed a cryptic 7;21 translocation. Our case and eight previously reported leukemic cases with the t(7;21)(p22;q22) appear to share similar features including monocytic differentiation, immunophenotypic aberrancies (often with CD56 and/or CD7), and a generally poor response to standard induction chemotherapy. About 80% of these cases had loss of 5q material as an additional abnormality at initial diagnosis or relapse. These findings suggest that t(7;21) may represent a distinct recurrent cytogenetic abnormality associated with AML. The association between the t(7;21) and 5q aberrancies appears to be non-random, however the pathogenetic connection remains unclear. Additional studies to evaluate for RUNX1 partner genes may be considered for AML patients with RUNX1 rearrangement and 5q abnormalities; however knowledge of the prognostic implications of this rearrangement is still limited.
doi:10.1186/2162-3619-3-8
PMCID: PMC4012275  PMID: 24646765
AML; Acute myeloid leukemia; t(7;21); t(7;21)(p22;q22); RUNX1; USP42
2.  High Lifetime Incidence of Adult Acute Lymphoblastic Leukemia among Hispanics in California 
Background
The higher incidence of acute lymphoblastic leukemia (ALL) among Hispanic children relative to that in other racial/ethnic groups is well-known. We evaluated incidence patterns of ALL in adults.
Methods
We analyzed the incidence patterns of ALL (ICD-03 codes 9835–9837) among all patients diagnosed from 1988–2004 in California using data from the California Cancer Registry to determine whether adult Hispanics also had higher incidence rates of ALL compared to non-Hispanic Whites (Whites). Age-adjusted incidence rates (AAIR), incidence rate ratios (IRR) and 5-year survival rates were obtained using SEER*Stat. AAIRs of other leukemia subtypes and IRRs relative to non-Hispanic whites were also examined as references of ALL.
Results
AAIRs of ALL in Hispanic males and females ages 20–54 years were higher compared to those in White males and females (IRR=1.99,95% CI=1.74–2.28 and IRR=1.91,95% CI=1.60–2.25 respectively). A higher AAIR of ALL was also observed among older (55+ years) Hispanic females (IRR=1.84, 95% CI=1.52–2.21), but not males (IRR= 1.07, 95% CI= 0.84–1.34). Among Hispanics, low socioeconomic status (SES) was associated with a higher AAIR compared to high/middle SES (IRR= 1.33, 95% CI=1.04–1.70). The respective five-year survival rates among ALL patients were 38% and 30% for Whites and Hispanics ages 20–54 years, and 8% and 12% for patients 55 years of age or older. Compared to other racial/ethnic groups, Hispanics did not have an increased IRR of the other major leukemia subtypes.
Conclusion
Hispanics experience a higher incidence of ALL throughout life, but not other subtypes.
doi:10.1158/1055-9965.EPI-07-2949
PMCID: PMC3191882  PMID: 19208664
3.  Diagnostic confusion resulting from CD56 expression by cutaneous myeloid sarcoma 
Rare Tumors  2009;1(2):e51.
Myeloid sarcomas are tumor masses composed of aggregates of malignant myeloid precursors in extramedullary sites including the skin. We report a case of myeloid sarcoma in a patient who presented with an ear lobe mass and facial nerve paralysis. Expression of CD56 by the malignant cells led to an initial misdiagnosis as Merkel cell tumor. Comprehensive pathological evaluation confirmed the diagnosis of myeloid sarcoma with aberrant expression of CD56 and carrying the translocation t(8;21) (q22;q22). Aberrant antigen expression by cutaneous myeloid sarcomas can cause diagnostic confusion with other cutaneous neoplasms. This is especially relevant when myeloid sarcoma is the sole manifestation of acute myeloid leukemia.
doi:10.4081/rt.2009.e51
PMCID: PMC2994451  PMID: 21139930
myeloid sarcoma; fluorescent in situ hybridization; t(8;21) acute myelogenous leukemia.
4.  Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia 
Journal of Hematopathology  2009;2(1):27-33.
Although KIT mutations are present in 20–25% of cases of t(8;21)(q22;q22) acute myeloid leukemia (AML), concurrent development of systemic mastocytosis (SM) is exceedingly rare. We examined the clinicopathologic features of SM associated with t(8;21)(q22;q22) AML in ten patients (six from our institutions and four from published literature) with t(8;21) AML and SM. In the majority of these cases, a definitive diagnosis of SM was made after chemotherapy, when the mast cell infiltrates were prominent. Deletion 9q was an additional cytogenetic abnormality in four cases. Four of the ten patients failed to achieve remission after standard chemotherapy and seven of the ten patients have died of AML. In the two patients who achieved durable remission after allogeneic hematopoietic stem cell transplant, recipient-derived neoplastic bone marrow mast cells persisted despite leukemic remission. SM associated with t(8;21) AML carries a dismal prognosis; therefore, detection of concurrent SM at diagnosis of t(8;21) AML has important prognostic implications.
doi:10.1007/s12308-009-0023-2
PMCID: PMC2713498  PMID: 19669220
Systemic mastocytosis; Acute myeloid leukemia; KIT mutations; Pathogenesis; Translocation (8;21); Prognosis

Results 1-4 (4)