ABSTRACT
Background@#Primary adrenal (PA) diffuse large B cell lymphoma (DLBCL) was previously reported as an aggressive subset of DLBCL, but its genetic features were not sufficiently characterized. From our previous study of DLBCL with programmed death-ligand 1 (PD-L1) gene alterations, we focused on PD-L1 gene alterations in PA-DLBCL with clinicopathologic implications. @*Methods@#We performed fluorescence in situ hybridization for PD-L1 gene translocation and amplification in PA-DLBCL (n = 18) and comparatively analyzed clinicopathologic characteristics with systemic non-adrenal (NA)-DLBCL (n = 90). @*Results@#PA-DLBCL harbored distinctive features (vs. NADLBCL), including high international prognostic index score (3–5) (72% [13/18] vs. 38% [34/90], p = .007), poor Eastern Cooperative Oncology Group performance score (≥ 2) (47% [7/15] vs. 11% [10/90], p = .003), elevated serum lactate dehydrogenase (LDH) (78% [14/18] vs. 51% [44/87], p = .035) and MUM1 expression (87% [13/15] vs. 60% [54/90], p = .047). Moreover, PA-DLBCL showed frequent PD-L1 gene alterations (vs. NA-DLBCL) (39% [7/18] vs. 6% [5/86], p = .001), including translocation (22% [4/18] vs. 3% [3/87], p = .016) and amplification (17% [3/18] vs. 2% [2/87], p = .034). Within the PA-DLBCL group, PD-L1 gene–altered cases (vs. non-altered cases) tended to have B symptoms (p = .145) and elevated LDH (p = .119) but less frequent bulky disease (≥ 10 cm) (p = .119). In the survival analysis, PA-DLBCL had a poor prognosis for overall survival (OS) and progression-free survival (PFS) (vs. NA-DLBCL; p = .014 and p = .004). Within the PA-DLBCL group, PD-L1 translocation was associated with shorter OS and PFS (p < .001 and p = .012). @*Conclusions@#PA-DLBCL is a clinically aggressive and distinct subset of DLBCL with frequent PD-L1 gene alterations. PD-L1 gene translocation was associated with poor prognosis in PA-DLBCL.
ABSTRACT
Acute myeloid leukemia (AML) is a common hematologic malignancy with high mortality and a short survival period in adults. About 10% of these cases, called therapy-related AML, are reported to be the consequence of chemotherapy or radiotherapy of previous malignancy. In a clinical setting, this is usually diagnosed by peripheral blood smear or bone marrow biopsy by assessing the proportion of blasts. However, postmortem blood samples are not suitable for smear analysis because of hemolysis. Therefore, ancillary tests for identifying leukemic infiltration or related molecular change can provide an alternative diagnostic clue for AML. The deceased had been treated for 3 years for a combined type of hepatocellular carcinoma with multiple pulmonary metastases. Treatments included the resections of primary and metastatic tumors, chemotherapy, and radiotherapy, which prevented further progression of his cancer. One year after the last treatment, he suddenly collapsed without any specific symptoms and shortly died. The microscopic examination of the autopsy samples revealed extensive extramedullary infiltration of leukemia, which was confirmed as an AML by a series of ancillary immunohistochemical staining. This case illustrates both the importance of careful hematologic observation in cancer survivors and the necessity of a detailed medical diagnosis in a medicolegal autopsy.