B-cell leukemia masquerades as bilateral ovarian tumors in young woman

A 20-year-old woman whose bilateral ovarian tumors looked advanced and malignant on imaging was instead found to have B-lymphoblastic leukemia/lymphoma involving a retroperitoneal lymph node, with leukemia confirmed in her bone marrow. The case shows that a rare blood cancer can closely imitate ovarian carcinoma in a young patient, particularly when large ovarian masses occur alongside widespread lymph-node enlargement and a markedly elevated lactate dehydrogenase level. Because the initial blood count was normal and no blood-cell abnormalities were apparent during the first evaluation, clinicians followed the diagnostic pathway for a solid ovarian tumor until a lymph-node biopsy revealed the true cause.

The patient had no significant medical or family history and presented with generalized body pain. A computed tomography scan performed at a community hospital showed large bilateral adnexal or ovarian masses, extensive intra-abdominal lymphadenopathy and peritoneal thickening, findings considered highly suspicious for metastatic ovarian carcinoma. At the academic medical center where she was subsequently assessed, she denied fever, chills, gastrointestinal or urinary symptoms, vaginal bleeding or discharge, weight changes and night sweats. Examination revealed bilateral scleral icterus and hepatosplenomegaly, but no other major abnormalities. The combination of young age and imaging that resembled disseminated gynecologic cancer initially pointed clinicians toward an ovarian malignancy rather than a hematologic disorder.

Laboratory testing added ambiguity. Her initial complete blood count was unremarkable, with a white blood cell count of 7.8 K/cumm, hemoglobin of 13.3 g/dL and platelet count of 310 K/cumm. However, lactate dehydrogenase was markedly elevated at 869 U/L, compared with a reference range of 98–192 U/L. Liver enzymes and bilirubin were also increased: aspartate aminotransferase was 157 U/L, alanine aminotransferase 289 U/L, alkaline phosphatase 171 U/L, and total and direct bilirubin were 1.6 and 0.8 mg/dL. Cancer antigen 125 was mildly elevated at 56.5 U/mL, above the stated upper reference limit of 35.0 U/mL. CA 19-9, carcinoembryonic antigen, alpha-fetoprotein and human chorionic gonadotropin were not elevated. Transvaginal ultrasound showed bilateral smooth, hypoechoic solid adnexal masses with very strong vascular flow, both classified as O-RADS 5: the right measured 8.5 cm and the left 9.9 cm.

After 19 days on the outpatient solid-tumor diagnostic timeline, the patient was admitted for further evaluation. Her blood count remained within reference ranges, although the platelet count had fallen to 164 K/cumm. Repeat CT showed bilateral adnexal soft-tissue masses measuring approximately 7.5 and 7.4 cm, confluent retroperitoneal lymphadenopathy around the aorta and inferior vena cava, additional pelvic and inguinal nodes, and significant hepatosplenomegaly. Omental inflammatory stranding was also present. Brain MRI showed no intracranial metastases. Although the ovarian imaging and CT appearances were compatible with advanced ovarian carcinoma, the combination of diffuse lymphadenopathy, hepatosplenomegaly and very high LDH was also compatible with an aggressive lymphoma. The absence of anemia, neutropenia or thrombocytopenia in the automated blood count, however, obscured the hematologic nature of the disease.

On Day 22, clinicians obtained a CT-guided core biopsy of a retroperitoneal lymph node rather than directly sampling an ovarian mass. The authors said this approach was intended to reduce the risk of rupturing an ovarian capsule and spilling tumor cells into the peritoneal cavity while also providing nodal staging. Histology showed that normal lymph-node architecture had been replaced by a diffuse infiltrate of intermediate-sized lymphoid blasts with immature chromatin. Immunostaining was positive for PAX5, CD10, BCL2, subset CD34 and terminal deoxynucleotidyl transferase, or TdT. Ki-67 staining indicated a 90% proliferation rate. The cells were negative for CD3, CD20 and BCL6. This immunophenotype supported B-lymphoblastic leukemia/lymphoma rather than a mature B-cell lymphoma, establishing the diagnosis that imaging alone had missed.

Subsequent testing documented systemic leukemia rather than disease confined to the ovaries. A peripheral smear on admission contained 2% blasts, and a bone marrow biopsy on Day 26 showed markedly hypercellular marrow, greater than 95%, with B-lymphoblasts representing approximately 60% of cellularity. By that point, she had pancytopenia: white blood cells were 1.8 K/cumm, hemoglobin 9.6 g/dL and platelets 73 K/cumm. Peripheral blood contained 12% circulating blasts. The nomenclature used for B-lymphoblastic leukemia/lymphoma depends on the principal site of involvement: B-ALL is characterized by dominant bone-marrow and peripheral-blood disease, while B-LBL denotes a presentation centered on lymph nodes or another extramedullary organ. Because marrow infiltration and circulating blasts were substantial, the final classification was B-ALL, despite the dramatic ovarian masses that had dominated the initial evaluation.

Next-generation DNA and RNA sequencing of the marrow identified a loss-of-function CREBBP mutation at p.R483*, a gain-of-function KRAS mutation at p.G12V, a frameshift loss-of-function KMT2D mutation at p.R661fs, CDKN2A copy-number loss and FLT3 overexpression. No gene rearrangements or altered splicing events were detected, including no TCF3::PBX1 fusion, which had appeared in several earlier cases of B-ALL or B-LBL initially presenting with ovarian masses. The sequencing findings provide a molecular profile for this case, but the mutations do not establish the cause of the rapid clinical course or independently dictate treatment. In particular, the precise contribution of KMT2D to B-ALL remains incompletely defined, and published work has not linked FLT3 expression consistently to risk or survival measures such as white blood cell count, central nervous system involvement, minimal residual disease or relapse.

While chemotherapy was being prepared, the patient developed tumor lysis syndrome on Day 25. She improved after treatment with bicarbonate infusion and rasburicase, then moved on Day 27 to a tertiary children’s hospital for continued management, bone marrow transplant evaluation and possible clinical-trial enrollment. The record does not provide a long-term oncologic outcome because she was lost to follow-up because of inter-institutional data-sharing constraints. Her case therefore offers no evidence about durable remission or survival, and the report does not establish the effectiveness of any treatment. The report’s primary support is diagnostic: tissue sampling exposed a hematologic malignancy that closely resembled ovarian carcinoma and redirected the patient away from the planned solid-tumor pathway.

A central limitation is that the ovaries themselves were not biopsied, so the diagnosis came from a retroperitoneal node and the marrow rather than direct histologic confirmation of ovarian tissue. The authors acknowledge that a separate, coincidental ovarian neoplasm cannot be completely excluded. Several findings argue against that possibility: the ovarian masses and involved nodes had similar radiographic features, the disease was broadly systemic, and the tumor-marker pattern did not support a common epithelial, germ-cell or gastrointestinal malignancy. Mild CA 125 elevation is nonspecific and can occur in hematologic conditions. The review identified fewer than 10 previously published English-language cases of B-ALL or B-LBL presenting with ovarian masses at initial diagnosis, making the report a description of a rare presentation rather than evidence from a controlled study.

For young patients with bilateral ovarian masses, the case supports a broad differential that includes leukemia and lymphoma, especially when imaging also shows bulky lymphadenopathy, organomegaly and markedly elevated LDH. Peripheral blood smears may reveal blasts even when an automated blood count is normal, while lymph-node biopsy can sometimes provide tissue without directly puncturing a suspicious ovarian mass. The report also notes that a normal blood count does not exclude marrow infiltration: retention of lymphoblasts in the marrow microenvironment and signaling through pathways such as CXCL12/CXCR4 may delay their appearance in circulation. In this patient, blood abnormalities emerged rapidly as the leukemia progressed. Although loss to follow-up limits conclusions about outcome, the diagnostic lesson is clear—unexpected ovarian tumors in adolescents and young adults warrant careful assessment for hematologic disease, and tissue diagnosis can prevent management based on a misleading appearance of advanced ovarian cancer.

Subject of Research: A rare case of B-lymphoblastic leukemia presenting as bilateral ovarian masses in a young woman

Article Title: B‐Lymphoblastic Leukemia Presenting as Bilateral Ovarian Masses in a 20‐Year‐Old Woman

Article References: Cai, J., Sin, D., Varda, M., Lewis, L., & Yeh, J. (2026). B‐Lymphoblastic Leukemia Presenting as Bilateral Ovarian Masses in a 20‐Year‐Old Woman. Clinical Case Reports, 14(10), Article e73736. https://doi.org/10.1002/ccr3.73736

Image Credits: AI Generated

DOI: 10.1002/ccr3.73736

Keywords: B-lymphoblastic leukemia, ovarian masses, young women, case report, lymph-node biopsy, bone marrow biopsy, tumor lysis syndrome, diagnostic delay, cancer imaging, genomic sequencing, Lymphoblastic, Leukemia