PMC10014590_01
Pedigree chart with age of the patient and family members in years. Maternal uncle was diagnosed with anaplastic thyroid cancer at the age of 44 years and died from metastatic disease at the age of 45 years. Patient was diagnosed with papillary thyroid carcinoma and B-ALL at the age of 12 years.
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F1
Family history revealed a diagnosis of metastatic thyroid cancer in a maternal uncle at the age of 44 years who died at the age of 45 years (Figure 1).
(A) Thyroidectomy reveals thyroid tissue with focal chronic inflammation and a papillary carcinoma (H&E stain, 100x). (B) Representative bone marrow biopsy reveals hypocellular marrow with trilineage hematopoiesis and no overt dysplasia (H&E stain, 400x). (C) Representative bone marrow aspirate reveals few erythroid and granulocytic cells with no overt dysplasia (Giemsa stain, 400x). (D) Karyotyping showing deletion of 7q. (E) Karyotyping showing absence of deletion 7q in most recent bone marrow specimen. (F Next generation sequencing (NGS) showing detection of leukemic clones at relapse and remission (0 residual clonal cells) at 1, 2 and 3 years after receiving tisagenlecleucel.
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F2
Fine needle aspiration cytology was diagnostic of papillary thyroid cancer, staged at Bethesda Category V (Figure 2A). However, no morphologic evidence of myelodysplasia was noted on BM biopsy (Figures 2B,C). Serial BM biopsies and cytogenetic testing continues to reveal intermittent partial deletion of the distal portion of 7q (Figures 2D,E), while the findings of translocation (1;19)(q23;p13.3) have resolved. His B-ALL remains in remission with no abnormal clones identified on serial NGS testing (Figure 2F) or by immunophenotyping (flow cytometry) and has persistent B cell aplasia.
Timeline of clinical events.
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F3
A summary of the patient's clinical course can be found in Figure 3.