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Tumor Discovery E-cadherin and p53 in AEL

diagnosis, probably in association with an exacerbation of erythroid cell markers. E-cadherin positivity and strong
PEL based on the rapid elevation of LDH to 3128 U/L and P53 positivity were the key clues of diagnosis. He was
with severe thrombocytopenia (15,000/µL). treated with a DNR/Ara-C regimen followed by a VEN/
AZA regimen but responded to neither treatment.
3. Discussion
In this case of anemia with prostatic adenocarcinoma Acknowledgments
(Gleason score 7), we performed a bone marrow examination The authors thank Dr. Sayaka Fukui and Dr. Naoki
suspecting disseminated prostatic adenocarcinoma; Nakajima, pathologists, for their helpful comments on
however, we found erythroid hyperplasia with increased the IHS on prostatic adenocarcinoma. This study was
E-cadherin-positive and P53-strongly positive (suggestive conducted with the support of the medical staff at the Uji
of mutated TP53) erythroblasts. These cells were CD45- Tokushukai Medical Center.
positive and CK-negative. On the other hand, prostatic
adenocarcinoma was E-cadherin positive, but P53 Funding
expression was compatible with wild-type. Thus, the results None.
confirmed that our case was a PEL.
Conflict of interest
Both secondary and de novo forms of PEL exist [3].
Although this case had multiple malignancies, he was The authors declare no conflicts of interest.
thought to have de novo PEL as he had no history of
myelodysplastic syndrome or previous chemotherapy. Author contributions
For a diagnosis of PEL, more than 80% of bone marrow Conceptualization: Naoyuki Anzai, Shinsaku Imashuku
nucleated elements must comprise erythroid precursors, Investigation: Satoko Mibayashi
and >30% of proerythroblasts must be present. Since Writing–original draft: Yasuhiro Kazuma, Yutaka Shimazu,
1
E-cadherin is expressed in hematopoietic erythroid Shinsaku Imashuku
4-6
precursors, we assumed that E-cadherin-positive blasts Writing–review & editing: All authors
were proerythroblasts in this case. In addition, the mutation
of TP53 was previously reported in PEL. In this case, we Ethics approval and consent to participate
3,8
confirmed strong P53 positivity by IHS, which indicates The work was carried out following the Declaration of
either TP53 gain-of-function mutation or overexpression of Helsinki as revised in 2013. This case report is approved
P53. Although we could not test the mutation, we assumed by the institutional review board (Uji-Tokushukai Medical
that the findings were suggestive of mutated TP53. We were Center Ethics Committee; IRB approval No. 2024-16).
also not able to examine the GATA1 mutation.
We assume that both E-cadherin positivity and strong Consent for publication
P53 positivity could be a useful marker for PEL. Bone Written informed consent was obtained from the patient’s
marrow with ringed sideroblasts, a known feature of PEL, family.
12
was also noted in this case. Although complex karyotypes
are common in PEL in which chromosomes 5 and 7 are the Availability of data
most frequently involved, this case did have a complex Data are available on request from the authors.
12
karyotype without chromosome 5 or 7 abnormalities.
In terms of the management of PEL, despite intensive References
chemotherapy/supportive care, all documented patients 1. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision
met their demise at a median of 1.8 months after treatment to the World Health Organization classification of myeloid
(range 0.2 – 9.3). More recently, the effectiveness of neoplasms and acute leukemia. Blood. 2016;127:2391-2405.
3
ruxolitinib, a targeted drug of the JAK/STAT pathway, has
been proposed. The present case died at <3 months after doi: 10.1182/blood-2016-03-643544
8,13
the diagnosis of PEL with one course each of DNR/AraC 2. Weinberg OK, Arber DA. Erythroleukemia: An update.
and VEN/AZA regimens; there was no opportunity to Curr Oncol Rep. 2021;23(6):69.
treat the patient with ruxolitinib. doi: 10.1007/s11912-021-01060-8
4. Conclusion 3. Reichard KK, Tefferi A, Abdelmagid M, et al. Pure (acute)
erythroid leukemia: Morphology, immunophenotype,
We report here an elderly case of PEL whose diagnosis was cytogenetics, mutations, treatment details, and survival
difficult to make due to the negativity of some classical data among 41 Mayo Clinic cases. Blood Cancer J.

Volume 3 Issue 3 (2024) 3 doi: 10.36922/td.3275