Journal of Hematology, ISSN 1927-1212 print, 1927-1220 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Hematol and Elmer Press Inc
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Case Report

Volume 12, Number 2, April 2023, pages 92-99

Treatment and Response Evaluation Challenges in a Pregnant Woman With B-Cell Lymphoblastic Leukemia and Li-Fraumeni Syndrome

Figures

Figure 1.
Figure 1. Flowcytometric characterization and response after treatment. Dot plot (a) to (d) represents CD45, CD19, CD22 and CD34 expression respectively on neutrophils (purple), B-ALL cells (red), T-/NK cells (light green), mature B cells (dark green) and normal B-cell progenitors (orange) at time of diagnosis. Dot plot (e) to (h) represents CD45, CD19, CD22 and CD34 expression respectively in the same cell subsets at day 53 after first induction treatment and dot plot (i) to (l) represents cell subsets at day 167. B-ALL: B-cell lymphoblastic leukemia.
Figure 2.
Figure 2. Treatment response. (a) Flowcytometric assessment of percentage B-ALL cells (circle), neutrophils (square) and T cells (triangle), at diagnosis, day 15, day 33, day 53, day 74 and day 120 after induction treatment. (b) G-banding of 17 metaphases after unstimulated cultivation showed low-hypodiploid phenotype with the karyotype 37,XX,del(2)(q11.2),-3,-4,-5,-7,-9,-15,-16,-17,-20[cp6]/46,XX[11]. Copy number array analysis supported the findings. (c) Immunohistochemical stains of bone marrow biopsy, showing many blast cells positive for CD34, PAX5, TdT and p53. In wild-type p53 patients, staining for p53 is varying weak to moderate positive. B-ALL: B-cell lymphoblastic leukemia.
Figure 3.
Figure 3. Treatment. Overview of the systemic chemo-immunotherapy that the patient received, both intravenously and intrathecally. Time of delivery is also marked.
Figure 4.
Figure 4. MRI of caput of B-ALL relapse in CNS demonstrating widespread leukemic tumor infiltration in the left occipital hemisphere. The white arrow indicates the B-ALL relapse. B-ALL: B-cell lymphoblastic leukemia; CNS: central nervous system; MRI: magnetic resonance imaging.

Table

Table 1. The Chompret Criteria for Germline TP53 Mutational Testing From 2015
 
CNS: central nervous system; LFS: Li-Fraumeni syndrome.
Familial presentationProband with tumor belonging to LFS tumor spectrum (e.g., premenopausal breast cancer, soft tissue sarcoma, osteosarcoma, CNS tumor, adrenocortical carcinoma) before the age of 46 years, AND at least one first- or second-degree relative with LFS tumor (except breast cancer if proband has breast cancer) before age of 56 years or with multiple tumors
Multiple primitive tumorsProband with multiple tumors (except multiple breast tumors), two of which belong to LFS tumor spectrum and first of which occurred before age of 46 years
Rare tumorsPatient with adrenocortical carcinoma, choroid plexus tumor, or rhabdomyosarcoma of embryonal anaplastic subtype, irrespective of family history
Early-onset breast cancerBreast cancer before age of 31 years