[1598] Myeloid Neoplasia with t(3;8)(q26;q24): Report of Four Cases and Review of the English Literature

Xiangdong Xu, Mu Su, Norman B Levy, Prabhjot Kaur, Rolando Garcia, Arash Mohtashamian, H Elizabeth Broome, Maria L Dell'Aquila, Huan-You Wang. Univ. of California San Diego, La Jolla, CA; Univ. of Texas Southwestern Medical Center, Dallas, TX; Dartmonth-Hitchcook Medical Center, Lebanon, NH; Naval Medical Center San Diego, San Diego, CA

Background: t(3;8)(q26;q24) is an extremely rare nonrandom balanced chromosomal translocation accounting for 3.5% of myeloid malignancies with 3q rearrangements. There are only 11 cases reported to date in the English literature. To better characterize this rare translocation, we report 4 additional cases of myeloid neoplasm with t(3;8)(q26;q24).
Design: Cytogenetic databases from three institutions were searched and four cases with t(3;8)(q26;q24) [2 acute myeloid leukemia (AML) and 2 myelodysplastic syndrome (MDS)] were retrieved.
Results: Three of the four patients were male, with ages ranging from 41 to 84 years old. One patient (#2) was positive for HIV, Kaposi sarcoma, and had a 9-year history of granulocyte colony stimulating factor (G-CSF) treatment for neutropenia. None of the patients had a history of chemotherapy prior to the current diagnosis.
Two (#1, #4) of the patients were initially diagnosed with AML and two (#2, #3) with MDS. The peripheral blood in all patients showed moderate anemia and variable levels of thrombocytopenia; one patient also had absolute neutropenia (#2). The bone marrows exhibited trilineage dysplasia in two patients (#1, #4) and erythroid and megakaryocytic dysplasia in the remaining two patients (#2, #3).
Conventional Karyotyping (Table1) revealed t(3;8)(q26;q24) as the sole abnormality in two patients (#1, #2). One patient (#3) had an accompanying trisomy 14 while the fourth (#4) also displayed deletion of 7p11.2p15 as well as isochromosome 7p10. In our limited cohort of patients, we did not detect an associated monosomy 7 as previously reported.

Table 1. Conventional karyotypic findings of the bone marrow aspirates.

Patient	Karyotype
#1	46,XY,t(3;8)(q26;q24)[22]
#2	46,XY,t(3;8)(q26;q24)[10]/46,XY[11]
#3	47,XY,t(3;8)(q26;q24),+14[11]/46,XY[1]
#4	46,XX, t(3;8)(q26.2;q24.1)[11]/46,idem,del(7)(p11.2p15)[2]/ 45,idem,i(7)(q10)[cp2]/46,XX [6]

Conclusions: In this second largest study of t(3;8)(q26;q24), we, for the first time, report that t(3;8)(q26;q24) can be associated with trisomy 14 or abnormalities involving both the short and long arms of chromosome 7 without deletion of 7q. In addition, to the best of our knowledge, this is the second reported case of t(3;8)(q26;q24) in a patient receiving long-term G-CSF treatment. As previously reported, t(3;8)(q26;q24) can occur as a primary or secondary event associated with AML or myelodysplasia of one or more lineages.
Category: Hematopathology

Tuesday, March 20, 2012 9:30 AM

Poster Session III # 211, Tuesday Morning