Impact of cytogenetic abnormalities on the risk of disease progression in solitary bone plasmacytomas.

Most patients with solitary bone plasmacytomas (SBP) progress to multiple myeloma (MM) after definitive radiation therapy as their primary treatment. Whether the presence of high-risk (HR) cytogenetic abnormalities by fluorescence in situ hybridization (FISH) in the clonal plasma cells, obtained either directly from the diagnostic SBP tissue or the corresponding bone marrow examination at the time of diagnosis, is associated with a shorter time to progression (TTP) to MM is unknown. This study evaluated all patients diagnosed with SBP at the Mayo Clinic from January 2012 to July 2022. The presence of del(17p), t(14;16), t(4;14), or +1q (gain or amplification) by FISH in clonal plasma cells was defined as HR. A total of 114 patients were included in this cohort, and baseline FISH was available for 55 patients (48%), of which 22 were classified as HR (40%). The median TTP to MM for patients with SBP and HR FISH was 8 months (95% confidence interval [CI], 6.3-26) compared with 42 months (95% CI, 25-not reached [NR]) in patients with SBP without HR FISH (P < .001). In a multivariate analysis, only HR FISH was a significant predictor for shorter TTP to MM, independent of minimal marrow involvement and an abnormal serum free light chain ratio at diagnosis. Deletion (17p) and gain 1q abnormalities were the most common FISH abnormalities responsible for the short TTP to MM. Thus, assessing for HR FISH abnormalities in clonal plasma cells derived from either the diagnostic SBP tissue or the staging bone marrow examination of patients with newly diagnosed SBP is feasible and prognostic for a shorter TTP to MM.

Long noncoding RNA plasmacytoma variant translocation 1 is overexpressed in cutaneous squamous cell carcinoma and exon 2 is critical for its oncogenicity.

BACKGROUND: Cutaneous squamous cell carcinoma (cSCC) is one of the most common and fastest increasing forms of cancer worldwide with metastatic potential. Long noncoding RNAs (lncRNAs) are a group of RNA molecules with essential regulatory functions in both physiological and pathological processes. OBJECTIVES: To investigate the function and mode of action of lncRNA plasmacytoma variant translocation 1 (PVT1) in cSCC. METHODS: Quantitative reverse transcriptase polymerase chain reaction and single-molecule in situ hybridization were used to quantify the expression level of PVT1 in normal skin, premalignant skin lesions, actinic keratosis (AK) and primary and metastatic cSCCs. The function of PVT1 in cSCC was investigated both in vivo (tumour xenografts) and in vitro (competitive cell growth assay, 5-ethynyl-2'-deoxyuridine incorporation assay, colony formation assay and tumour spheroid formation assay) upon CRISPR-Cas9-mediated knockout of the entire PVT1 locus, the knockout of exon 2 of PVT1, and locked nucleic acid (LNA) gapmer-mediated PVT1 knockdown. RNA sequencing analysis was conducted to identify genes and processes regulated by PVT1. RESULTS: We identified PVT1 as a lncRNA upregulated in cSCC in situ and cSCC, associated with the malignant phenotype of cSCC. We showed that the expression of PVT1 in cSCC was regulated by MYC. Both CRISPR-Cas9 deletion of the entire PVT1 locus and LNA gapmer-mediated knockdown of PVT1 transcript impaired the malignant behaviour of cSCC cells, suggesting that PVT1 is an oncogenic transcript in cSCC. Furthermore, knockout of PVT1 exon 2 inhibited cSCC tumour growth both in vivo and in vitro, demonstrating that exon 2 is a critical element for the oncogenic role of PVT1. Mechanistically, we showed that PVT1 was localized in the cell nucleus and its deletion resulted in cellular senescence, increased cyclin-dependent kinase inhibitor 1 (p21/CDKN1A) expression and cell cycle arrest. CONCLUSIONS: Our study revealed a previously unrecognized role for exon 2 of PVT1 in its oncogenic role and that PVT1 suppresses cellular senescence in cSCC. PVT1 may be a potential biomarker and therapeutic target in cSCC.

Extramedullary Plasmacytoma of the Penis as a First Manifestation of Multiple Myeloma: A Case Report.

INTRODUCTION: Plasmacytoma is a rare plasma-cell neoplasm, which includes bone and extramedullary types. While most cases occur in the head and neck, our report presents an unusual case of extramedullary plasmacytoma (EMP) in the penis, emphasizing the diverse locations of this condition. CASE PRESENTATION: An 88-year-old man, post-hydrocelectomy, presented with a palpable penile mass causing urinary symptoms. CT scans revealed a tumor with extracapsular spread and potential urethral involvement. Biopsy confirmed lymphoma, later identified as extramedullary plasmacytoma. A follow-up whole-body CT scan was performed, revealing multiple areas of bone rarefaction of the dens of the axis. His diagnosis has been further specified as multiple myeloma. Treatment with lenalidomide, bortezomib, and dexamethasone led to significant penile tumor reduction and improved voiding symptoms after three cycles. CONCLUSION: A rare case of primary EMP in the penis is reported, with only two documented cases of EMP in this location. The etiology of EMP remains unclear, possibly linked to chronic infection, irritation, or inflammation. EMP typically occurs in soft tissues, commonly in the head and neck, presenting as submucosal masses with symptoms in individuals aged 50-70. Diagnosis requires demonstrating monoclonal plasma cell infiltration and excluding multiple myeloma. While EMPs are often treated with radiotherapy, a patient with bone rarefaction suggestive of multiple myeloma requires first-line chemotherapy. This case highlights the importance of recognizing myeloma-defining events for appropriate treatment.

Solitary bone plasmacytoma of spine with involvement of intervertebral disk: a case report and literature review.

Primary malignant bone tumors of the spine are exceedingly rare, with solitary bone plasmacytoma (SBP) representing approximately 30% of all cases. Radiological assessments are crucial for localizing SBP and for ruling out a diagnosis of multiple myeloma (MM). Imaging features resembling a "mini-brain" appear to be distinctive for SBP. Vertebral lesions accompanied by adjacent disc space involvement typically suggest spinal infections, while the potential for SBP involvement is often overlooked. We present a case of a 61-year-old female with SBP who exhibited thoraco-lumbar spine destruction and adjacent disc space involvement. The patient sought treatment at our medical center due to lumbodorsal pain radiating bilaterally to the inguinal regions. Radiological findings revealed an osteolytic lesion involving the intervertebral disc, making it challenging to distinguish between tumor and inflammation. A biopsy of the vertebral lesion confirmed the diagnosis of SBP, which was further supported by laboratory results. Post-diagnosis, the patient underwent radiotherapy, receiving a total dose of 4000 Gy, which alleviated her symptoms. We also provide a comprehensive literature review on SBP with disc involvement to aid both clinical and radiological diagnoses.

Successful Treatment of Refractory Orbital Plasmacytoma with Chimeric Antigen Receptor T Cell Therapy: A Case Report and Review of the Literature.

Orbital plasmacytoma is a rare plasma cell tumor that may arise as an aggressive form of extramedullary multiple myeloma. Treatment modalities include surgical excision, radiation, and chemotherapy. Chimeric antigen receptor T cell therapy is currently reserved for refractory disease. The authors present a case of a 69-year-old woman with an extensive orbital plasmacytoma refractory to multimodal therapy who was treated with idecabtagene vicleucel chimeric antigen receptor T cell therapy. Four days after infusion, the patient exhibited grade 1 cytokine release syndrome, which resolved with tocilizumab. The orbital plasmacytoma significantly decreased in size 1 month after treatment and demonstrated complete serological response and sustained tumor burden reduction at 10-month follow-up. This case highlights the efficacy of chimeric antigen receptor T cell therapy for refractory orbital plasmacytoma and calls attention to potential inflammatory toxicities.

miR-15a/16-1 deletion in activated B cells promotes plasma cell and mature B-cell neoplasms.

Chromosome 13q deletion [del(13q)], harboring the miR-15a/16-1 cluster, is one of the most common genetic alterations in mature B-cell malignancies, which originate from germinal center (GC) and post-GC B cells. Moreover, miR-15a/16 expression is frequently reduced in lymphoma and multiple myeloma (MM) cells without del(13q), suggesting important tumor-suppressor activity. However, the role of miR-15a/16-1 in B-cell activation and initiation of mature B-cell neoplasms remains to be determined. We show that conditional deletion of the miR-15a/16-1 cluster in murine GC B cells induces moderate but widespread molecular and functional changes including an increased number of GC B cells, percentage of dark zone B cells, and maturation into plasma cells. With time, this leads to development of mature B-cell neoplasms resembling human extramedullary plasmacytoma (EP) as well as follicular and diffuse large B-cell lymphomas. The indolent nature and lack of bone marrow involvement of EP in our murine model resembles human primary EP rather than MM that has progressed to extramedullary disease. We corroborate human primary EP having low levels of miR-15a/16 expression, with del(13q) being the most common genetic loss. Additionally, we show that, although the mutational profile of human EP is similar to MM, there are some exceptions such as the low frequency of hyperdiploidy in EP, which could account for different disease presentation. Taken together, our studies highlight the significant role of the miR-15a/16-1 cluster in the regulation of the GC reaction and its fundamental context-dependent tumor-suppression function in plasma cell and B-cell malignancies.

Multicentric Castleman Disease and Concurrent Hematological Disorders: The Occurrence of Plasmacytoma and the Hypotheses Arising from Literature Review.

The concomitant presence of Castleman disease (CD) with other hematological pathology is an event described in the literature with increasing frequency, able to modify the diagnostic and curative approach in such patients. Very few studies in the literature describe the association of CD with concomitant neoplastic diseases; the most frequent are Kaposi's sarcomas (especially in HIV and human herpes virus-8-positive patients) and lymphoproliferative disorders, such as lymphomas. Instead, since the association with plasma cell diseases such as multiple myeloma and plasmacytoma is infrequent, there is a lack of literature. This manuscript aimed to revise the literature by describing a rare case of CD and plasmacytoma and attempting to explain the underlying triggering mechanisms.

AID is required for the chromosomal breaks in c-myc that lead to c-myc/IgH translocations.

Chromosomal translocation requires formation of paired double-strand DNA breaks (DSBs) on heterologous chromosomes. One of the most well characterized oncogenic translocations juxtaposes c-myc and the immunoglobulin heavy-chain locus (IgH) and is found in Burkitt's lymphomas in humans and plasmacytomas in mice. DNA breaks in IgH leading to c-myc/IgH translocations are created by activation-induced cytidine deaminase (AID) during antibody class switch recombination or somatic hypermutation. However, the source of DNA breaks at c-myc is not known. Here, we provide evidence for the c-myc promoter region being required in targeting AID-mediated DNA damage to produce DSBs in c-myc that lead to c-myc/IgH translocations in primary B lymphocytes. Thus, in addition to producing somatic mutations and DNA breaks in antibody genes, AID is also responsible for the DNA lesions in oncogenes that are required for their translocation.

Primary central nervous system other iatrogenic immunodeficiency-associated lymphoproliferative disorders presenting as extraosseous plasmacytoma with a progressive clinical course: A case report and literature review.

Other iatrogenic immunosuppressive-associated lymphoproliferative disorders (OIIA-LPDs) rarely occur in the central nervous system (CNS). Additionally, they almost always present as lymphoma and withdrawal by cessation of immunosuppressive treatment. We report a case of primary CNS OIIA-LPD that presented as extraosseous plasmacytoma (EP) with a progressive clinical course in spite of immunosuppressive treatment cessation. A 78-year-old man with a history of rheumatoid arthritis (RA) presented with a month-long headache. Magnetic resonance imaging showed mass lesions in the left temporal lobe, left middle fossa, and intradural cervical spine. The left temporal lesion was resected and diagnosed as EP histologically, and OIIA-LPD presented as plasmacytoma integrally due to his history of immunosuppressive treatment using tacrolimus for RA. Despite immunosuppressive treatment cessation, OIIA-LPD lesions did not regress but, on the contrary, showed a progressive clinical course. Considering his advanced age and renal dysfunction, postoperative treatment with radiation and moderate chemotherapy using prednisolone were administrated. Subsequently, the disease state stabilized, and the patient had a Karnofsky performance status score of 90 for 6 months; however, the tumor recurred with meningeal dissemination, and he died 8 months after treatment. Types of OIIA-LPD onset as EP and its progressive clinical course resistant to cessation of immunosuppressive treatment are rare. Moreover, this OIIA-LPD disease state worsened despite its radiosensitivity. We believe the progressive clinical course of this OIIA-LPD case with its high cell proliferation is similar to Epstein-Barr virus negative plasmablastic lymphoma, which could lead to a poor outcome.

Rare Pattern of Myelodysplastic Syndrome (MDS) with Serum Monoclonal Immunoglobulin: Case Report.

Background: Myelodysplastic syndromes (MDS) are clonal hematopoietic stem cell disorders characterized by bone marrow dysplasia, ineffective hematopoiesis, and cytopenias. Monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM) patients have a high risk of secondary MDS or acute myeloid leukemia (AML) compared to healthy persons, and chemotherapy or transplantation may result in secondary treatment-related MDS. Methods: A patient was diagnosed with both MDS and MGUS, which was treated using thalidomide, dexamethasone, and danazol. A follow-up blood test was conducted to determine leukocyte and hemoglobin levels. Results: Immunoprotein electrophoresis showed M protein peak with IgA+ κ components. Nuclear cells proliferated actively in bone marrow aspirates. Bone marrow analysis suggested a myelodysplastic syndrome with myeloblastoma (MDS-RS) and a new plasmacytoma. The immunophenotype was shown as follows: R5 cells (red) are about 15.5%. Among the CD38+CD45 cells, about 95.9% of cKappa cells and 1.7% of cLambda cells are considered as plasmacytoma. Gene detection showed that the patient carried 14 gene mutations, and karyotype analysis showed that they had normal male chromosome structure. The patient was diagnosed as MDS and MGUS, and finally discharged after treatment with thalidomide (75 mg daily), dexamethasone (3 mg daily), and danazol (200 mg twice daily). Within 1 year, the disease has stabilized. Conclusion: The combination of plasma cell disease and myeloid malignancy may increase mortality. This is uncommon and may be easily misdiagnosed if not detected early. When a myeloid neoplasm tests positive for MDS and serum M protein, clinicians should evaluate for other plasma cell disease.

Plasmacytoma of the Head and Neck: Case Series and Review of the Literature.

Solitary plasmacytoma is a rare neoplasm characterized by localized proliferation of monoclonal plasma cells and is classified as solitary bone or solitary extramedullary plasmacytoma. Here, we present two rare cases of plasmacytoma of the head and neck. The first is a 78-year-old male who presented with a 3-month history of epistaxis and progressive obstruction of the right nasal passage. Computerized tomography (CT) imaging revealed a mass in the right nasal cavity with destruction to the maxillary sinus. An excisional biopsy was performed revealing anaplastic plasmacytoma. The second is a 64-year-old male with a past medical history significant for prostate cancer who presented with a 2-month history of left ear pain and progressive non-tender temporal swelling. A PET/CT revealed a highly avid, destructive, and lytic left temporal mass with no other evidence of distant disease. A left temporal craniectomy and infratemporal fossa dissection revealed plasma cell dyscrasia with monoclonal lambda in situ hybridization. Although plasmacytomas are uncommon tumors of the head and neck, they may mimic other entities that require different treatment. Prompt and accurate diagnosis is critical for appropriate therapeutic decisions and prognosis.

Atypical Multiple Myeloma Case: Atypical Clinical Presentation, in Female and at Young Age.

BACKGROUND: Multiple myeloma (MM) is ranked as the 14th most prevalent cancer, making up 1.8% of all cancers and 10% of blood cancers, rarely seen below 35 years. MM presented aggressively in the young age group, including greater incidences of extramedullary plasmacytomas, plasma cell leukemia (11%), osteolytic lesions, kidney failure (25%), and Bence Jones proteinuria (81%). Though youngsters have an aggressive presentation, their response to treatment is as similar to older patients. CASE: We reported a case of a young female from the rural Konkan region of Maharashtra with complaints of right limb radicular pain and back pain diagnosed with MM with acute kidney injury and hypercalcemia. First-line treatment for her included conventional chemotherapy mixed with a proteasome inhibitor (bortezomib) and intravenous hydration for acute kidney injury and hypercalcemia with injection (inj) zoledronate. CONCLUSION: The case study shows how MM must be ruled out before being considered as a possible diagnosis for a young child who has neurological problems and mass lesions.

[Onset of Testicular Plasmacytoma in a Patient with Refractory Multiple Myeloma].

A 72-year-old male patient, who had been on chemotherapy for the treatment of IgG-λ multiple myeloma, presented an enlargement of the testis 3 years and 5 months after the diagnosis. High orchiectomy was then performed, leading to the diagnosis of plasmacytoma. Due to residual disease, treatment with a combination of isatuximab and dexamethasone was initiated. The patient is currently under follow-up without recurrence. While testicular tumors are difficult to diagnose by imaging studies alone and extramedullary plasmacytomas rarely occur in the testis, pathological assessment is critical for treatment planning.

Gastrointestinal, hepatic, and pancreatobiliary involvement by plasma cell neoplasms: clinicopathologic correlations in a retrospective cohort of 116 cases.

AIMS: Plasma cell neoplasms (PCNs) may involve the gastrointestinal (GI) tract in two forms: plasmacytoma (PC), an isolated lesion that lacks marrow involvement, and extramedullary myeloma (EMM). However, previous literature on PCNs involving the GI tract, liver, and pancreas is limited. We evaluated the clinicopathologic features of the largest series of GI PCNs to date. METHODS AND RESULTS: Six institutional archives were searched for GI, liver, and pancreas cases involved with PCNs. Medical records were reviewed for clinical and imaging features. Histopathologic features evaluated included involved organ, tumor grade, and marrow involvement. Overall, 116 cases from 102 patients were identified. The tumors most presented as incidental findings (29%). The liver was most involved (47%), and masses/polyps (29%) or ulcers (21%) were the most common findings. Most cases had high-grade morphology (55%). The majority (74%) of GI PCNs were classified as EMM due to the presence of marrow involvement at some point during the disease course, occurring within a year of marrow diagnosis in 46% of patients. PC was classified in 26% of patients due to the lack of marrow involvement. Most (70%) patients died from disease within 10 years (median 14.1) of diagnosis and more than half (58%) died within 6 months. CONCLUSION: PC and EMM involving the GI tract, liver, and pancreas have a wide range of clinicopathologic presentations. Tumors may occur virtually anywhere in the GI tract or abdomen and may precede the diagnosis of marrow involvement. Both GI PC and EMM are associated with a poor prognosis.

Relapse with plasmacytoma after upfront autologous stem cell transplantation in multiple myeloma.

Plasmacytoma has been reported to be associated with a poor prognosis in patients with multiple myeloma (MM). In this study, we evaluated the incidence of relapse with plasmacytoma and survival outcomes after upfront autologous stem cell transplantation (ASCT). This study retrospectively analyzed the data of 303 patients with MM who underwent upfront ASCT between April 2000 and April 2018 at eight institutes in the Republic of Korea. In total, 52 patients (17.1%) had plasmacytoma at MM relapse after upfront ASCT, of whom, 27 had paramedullary plasmacytoma (PMD) and 25 had extramedullary plasmacytoma (EMD). Patients with initial plasmacytoma were more likely to have plasmacytoma at MM relapse than those without initial plasmacytoma (37.1% vs. 11.2%). Over a median follow-up of 66.0 months, patients with plasmacytoma at relapse had significantly inferior overall survival (OS) than those without plasmacytoma (43.9 vs. 100.7 months, P < 0.001), but the OS did not significantly differ between patients with EMD and those with PMD (42.2 vs. 56.6 months, P = 0.464). After MM relapse, all patients received salvage therapy, and progression-free survival after relapse was significantly shorter in patients with plasmacytoma than in those without (6.4 vs. 12.4 months, P = 0.007). This study showed that plasmacytoma frequently developed at MM relapse after upfront ASCT in patients with plasmacytoma at the time of diagnosis. Plasmacytoma at relapse was significantly associated with a poor prognosis.

Solitary Bone Plasmacytoma of Humerus Presenting as a Nonhealing Fracture in a Child: A Rare Entity.

Solitary bone plasmacytoma is an extremely rare entity and is characterized by localized proliferation of monoclonal plasma cells. Plasmacytomas are extremely rare in the pediatric population. The median age at diagnosis is usually the fifth or sixth decade, with axial skeleton being more commonly involved than appendicular. We hereby, report the case of a 13-year-old boy with solitary bone plasmacytoma of the right humerus. Though extremely rare in the pediatric age group, plasmacytomas may be considered as one of the remote differentials in children presenting with solitary bone tumors.

Extramedullary Plasmacytoma of the Sinonasal Cavity: Magnetic Resonance Imaging Characteristics With Readout-Segmented Diffusion-Weighted Imaging and Dual-Energy Computed Tomography Features.

PURPOSE: To determine magnetic resonance imaging (MRI) with readout-segmented diffusion-weighted imaging (RESOLVE-DWI) and dual-energy computed tomography (DECT) features of sinonasal extramedullary plasmacytoma (SN-EMP). METHODS: The MRI and/or DECT of 10 patients with SN-EMP confirmed by pathology were retrospectively reviewed. Apparent diffusion coefficient (ADC) values of RESOLVE-DWI were analyzed in 9 patients. The quantitative parameters derived from DECT, including the iodine concentration (IC), effective atomic number, and the slope (k) of spectral attenuation curve, were measured in 3 patients. RESULTS: On conventional MRI, typical lesions were well defined (7 of 9), and isointense to the brain on both T1WI and T2WI (9 of 9). Most lesions presented with marked enhancement on contrast-enhanced T1WI without significant necrosis (8 of 9). Notably, multiple flow-void signals were observed in all lesions (9 of 9). On RESOLVE-DWI, the average ADC value was 0.55 × 10-3 mm2/s, and the normalized ADC value was 0.66 ± 0.04. On DECT, the average values of IC, effective atomic number, and slope (k) was 2.7 mg/mL, 8.62, and 3.8, respectively. CONCLUSIONS: Some typical MRI features (well-defined mass, isointensity to the brain, marked enhancement without obvious cystic changes, multiple flow voids, and a lower ADC value) strongly suggest the diagnosis of SN-EMP. The quantitative parameters derived from RESOLVE-DWI and DECT may provide more information for the diagnosis of SN-EMP.

Periarticular plasma cell tumors in cats.

This report describes periarticular plasma cell tumors with abundant amyloid in 11 cats. The tarsus was the most commonly affected joint (10/11), and the masses were often circumferential around the tarsal joint, involving the dermis and subcutis. The 2 cases in which synovium was examined had neoplastic cells expanding the synovium. Three of the 5 cases staged radiographically had bony lysis of the affected joint. Cutaneous biopsy specimens often consisted of more amyloid than plasma cells, making the diagnosis difficult on small samples. Follow-up information was available in 7 cases; in those cases, the median survival was 194 days (range 53-671 days). Four cases had confirmed metastases, most often to regional lymph nodes, liver, and spleen. Although canine cutaneous plasma cell tumors are typically benign, those with abundant amyloid surrounding the joints of cats may involve deeper tissues and have a more aggressive behavior. These tumors can be difficult to diagnose due to low cellularity and abundant amyloid.

Diagnostic and Prognostic Value of Deregulated Long Non-Coding RNA Plasmacytoma Variant Translocation 1 in Patients with Gestational Hypertension.

This study aimed to investigate the serum plasmacytoma variant translocation 1 (PVT1) level in pregnant women with gestational hypertension and pre-eclampsia and its diagnostic value for diseases and its influence on pregnancy outcome. Serum PVT1 levels in 72 pregnant women with gestational hypertension, 72 pregnant women with pre-eclampsia and 71 healthy pregnant women were evaluated by RT-qPCR, and the diagnostic significance of PVT1 for gestational hypertension was verified by receiver operator characteristic (ROC) curve. The correlation between PVT1 and clinical indicators were evaluated by Pearson correlation coefficient method. Logistic regression analysis evaluated the influencing factors in the development process of gestational hypertension to pre-eclampsia. The effect of PVT1 level on pregnancy outcome was evaluated by prognostic analysis. Results showed that PVT1 level was down-regulated in gestational hypertension group compared with healthy control group, whereas PVT1 level was down-regulated more significantly in pre-eclampsia group than in gestational hypertension group. ROC curve showed that PVT1 had high diagnostic accuracy for gestational hypertension. Pearson correlation coefficient and multiple linear regression analysis showed that PVT1 was correlated with systolic blood pressure, diastolic blood pressure, interleukin (IL)-6 and tumor necrosis factor-α. Logistic regression analysis revealed that IL-6 and PVT1 were the influencing factors of gestational hypertension to pre-eclampsia transition. Moreover, prognostic analysis manifested that the incidence of fetal growth restriction in low PVT1 expression group was significantly higher than that in high PVT1 expression group. The expression level of PVT1 has a high diagnostic accuracy for gestational hypertension, and the low PVT1 expression group is more prone to fetal growth restriction.

Periocular Presentation of Solitary Plasmacytomas and Multiple Myeloma.

AIMS: To describe patients with periocular solitary extramedullary plasmacytoma (SEMP) and multiple myeloma (MM), together with an estimate of the risk of progression from SEMP to MM. PATIENTS AND METHODS: A retrospective case-note review for patients seen between 1978 and 2020, examining demographics, presentation, imaging, pathology, management, and outcome. RESULTS: Twenty patients (10 male; 50%) presented at a mean age of 60.9 years, with an average symptom duration of 4.5 months. Ten (50%) patients had known systemic myeloma at ophthalmic presentation (the MM group) and, on average, they presented one decade earlier than those with occult MM discovered after orbital biopsy (p = 0.06); the majority (9/15; 60%) of patients with MM were female, whereas there was a male bias (4/5; 80%) with SEMP (p = 0.30). Most tumors (15/20; 75%) were within the anterior part of the orbit, especially superolaterally (16 patients; 80%), and the soft-tissue mass often appeared to "explode" from the frontal bone or greater wing of the sphenoid (16/20; 80%). Full treatment details were known for 19 patients: 6 (32%) had solely orbital radiotherapy, 4 (21%) chemotherapy, 6 (32%) combined chemoradiation, and 3 (16%) had combined chemoradiation with stem-cell transplant (Table 3). After an average follow up of 58 months, 1/5 (20%) patients with SEMP and 11/15 (73%) with MM had tumor-related death. The overall survival probability for all 20 patients with periocular plasmacytoma was 34% at 5 and 10 years, with MM patients having a worse outlook (27% 5-year, and 18% 10-year survival) compared with SEMP (53% survival at 5 and 10 years) (p = 0.18). None of the 5 patients with SEMP progressed to systemic MM over an average follow up of 9.1 years. CONCLUSIONS: Although 50% patients with periocular plasmacytoma appear to have a SEMP at ophthalmic presentation, a half of these patients were found to have occult MM within 6 months of biopsy. Of those without systemic disease around the time of biopsy, none developed MM over an average follow up of more than 9 years.