A Unique Case of der(16)t(1;16) Identified in B-Lymphoblastic Leukemia

Elena M. Fenu,Michael Beaty,Giovanni Insuasti-Beltran,Mark J. Pettenati,Dmitry A. Lyalin  

Atrium Wake Forest Baptist Health

This chromosome aberration is

This chromosome aberration is
Rare

Patient demographics

Sex
Male
Age
65

Clinical findings (leukemia/lymphoma)

Date of diagnosis
12/2020
Wbc
24
Hb
7
Platelets
5
Blasts
64
Immunophenotype
Two sub-populations of blasts were detected. One (approximately 40% of total events) expressed CD45 (dim), CD19, CD34, CD79a, CD10 (heterogeneous), TdT, CD22 (~90%), CD81 (dim), CD33 (dim/subset), CD38 (dim), CD66c, CD58, and CD73. The second population (approximately 20% of total events) expressed CD45 (dim), CD19, CD10 (strong), TdT (dim), CD22 (~97%), CD38, CD81, CD58, and CD73.

Who classification
B-lymphoblastic leukemia with t(9;22)(q34;q11.2) BCR-ABL1

Clinical findings (solid tumor)

Who classification
B-lymphoblastic leukemia with t(9;22)(q34;q11.2) BCR-ABL1

Sample(s) submitted for testing

Sample(s) submitted for testing
Bone Marrow

Conventional cytogenetics

Cultures set up
48h
Mitogen used
No
Banding used
G-banding

Karyotypic description
46,XY,t(9;22)(q34;q11.2),der(16)t(1;16)(q12;q24)[5]/46,XY[15]

Provide karyogram

Fish

Fish phase
Metaphase FISH
Describe probes used, chromosome location, and results
FISH nuc ish(ABL1,BCR)x3(ABL1 con BCRx2)[118/200], performed on peripheral blood

Follow up

Treatment
Yes
Describe
The patient was treated with Dasatinib, Decadron, Allopurinol, Hydroxyurea, and intravenous hydration in the acute setting but his hospital course was complicated by an exacerbation of his pre-existing atrial fibrillation, two right middle cerebral artery infarctions, and a pulmonary embolus with DVTs of the bilateral lower extremities. The patient decompensated and subsequently passed away.

Complete remission achieved
No

Conclusions and relevant comments

Comments
The chromosomal abnormality der(16)t(1;16) is rare in hematologic malignancies. The specific translocation seen in our patient had previously only been reported in two cases of acute myeloid leukemia, specifically a 9 year-old girl with Fanconi anemia and a 22 year-old male, and a similar translocation [der(16)t(1;16)(q12;q11.2)] has been reported in B-lymphoid blast crisis of chronic myeloid leukemia (Yanagiya et al., 2020; Huret, 2000). This abnormality has also previously been reported in solid tumors like Ewing sarcoma where it carries a poor prognosis (Hattinger et al., 1996; Hattinger et al., 2000). The patientu2019s der(16)t(1;16)(q12;q24) represents a novel genetic abnormality that has not previously been reported in de-novo B-ALL, and little is known about this abnormality in B-ALL and its implications in pathogenesis and prognosis.

Bibliography

No bibliography items were found for this article.

Citation

Elena M. Fenu,Michael Beaty,Giovanni Insuasti-Beltran,Mark J. Pettenati,Dmitry A. Lyalin

A Unique Case of der(16)t(1;16) Identified in B-Lymphoblastic Leukemia

Atlas Genet Cytogenet Oncol Haematol. 2021-10-27

Online version: http://atlasgeneticsoncology.org/case-report/208945/a-unique-case-of-der(16)t(1;16)-identified-in-b-lymphoblastic-leukemia