# Case report: BCR-ABL-positive acute lymphoblastic leukemia with bone destruction: a treatment dilemma

**Authors:** Shi Lijun, Ma Zhongrui, Wei Li, Yu Xia, Jiang Wei, Pan Yaning

PMC · DOI: 10.3389/fonc.2024.1356311 · Frontiers in Oncology · 2024-02-21

## TL;DR

This case report describes a rare and challenging instance of BCR-ABL-positive ALL in an adult with bone destruction and hypercalcemia, highlighting treatment difficulties and the need for better therapies.

## Contribution

The paper presents a rare case of BCR-ABL-positive ALL in an adult with bone destruction and hypercalcemia as initial symptoms.

## Key findings

- The patient achieved remission with dasatinib but experienced recurrence with the T315I mutation.
- Bone destruction persisted despite treatment, indicating the need for more effective strategies.
- The patient eventually died from a severe pulmonary infection after relapse.

## Abstract

Although bone destruction and hypercalcemia without acute peripheral blast BCR-ABL-positive acute lymphoblastic leukemia (ALL) have been reported in children, they are rare in adults. Herein, we describe a case of BCR-ABL positive ALL with a triploid karyotype, WT1, and CDKN2A mutations with hypercalcemia and bone destruction as the first manifestations. Complete remission (CR) was achieved by induction chemotherapy. BCR-ABL turned negative after treatment with dasatinib. However, computed tomography and whole-body bone scan showed extensive bone destruction. Additionally, bone biopsy showed leukemic infiltration. After treatment with dasatinib and VMCP, leukemia recurred with positive BCR-ABL. The T315I mutation occurred. The patient was surgically diagnosed with calculous cholecystitis and achieved CR2 by postoperative orebatinib and VP regimens. Later, the patient died due to a severe pulmonary infection. BCR-ABL-positive ALL with bone destruction is rare and difficult to control using tyrosine kinase inhibitor chemotherapy alone. Therefore, further exploration of more effective treatments is needed.

## Linked entities

- **Genes:** ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) [NCBI Gene 25], WT1 (WT1 transcription factor) [NCBI Gene 7490], CDKN2A (cyclin dependent kinase inhibitor 2A) [NCBI Gene 1029]
- **Chemicals:** dasatinib (PubChem CID 3062316)
- **Diseases:** acute lymphoblastic leukemia (MONDO:0004967), hypercalcemia (MONDO:0001566)

## Full-text entities

- **Genes:** WT1 (WT1 transcription factor) [NCBI Gene 7490] {aka AWT1, GUD, NPHS4, WAGR, WIT-2, WT-1}, TXK (TXK tyrosine kinase) [NCBI Gene 7294] {aka BTKL, PSCTK5, PTK4, RLK, TKL}, ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) [NCBI Gene 25] {aka ABL, BCR-ABL, CHDSKM, JTK7, bcr/abl, c-ABL}, CDKN2A (cyclin dependent kinase inhibitor 2A) [NCBI Gene 1029] {aka ARF, CAI2, CDK4I, CDKN2, CMM2, INK4}
- **Diseases:** leukemia (MESH:D007938), leukemic infiltration (MESH:D017254), hypercalcemia (MESH:D006934), bone destruction (MESH:D001847), acute lymphoblastic leukemia (MESH:D054198), pulmonary infection (MESH:D012141), calculous cholecystitis (MESH:D002764)
- **Chemicals:** VMCP (MESH:C038967), dasatinib (MESH:D000069439), orebatinib (-), VP (MESH:C038467)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** T315I

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10915032/full.md

## References

14 references — full list in the complete paper: https://tomesphere.com/paper/PMC10915032/full.md

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Source: https://tomesphere.com/paper/PMC10915032