IgG-k/IgG-λ Para-Osseous Plasmacytoma Relapsed as Soft-Tissue Plasmacytoma with IgA-k Immunophenotype: A Case Report and Review of the Literature on Related Biochemical Aspects.

Neoplastic plasma cells (PCs) proliferation at anatomic sites dislocated from the bone marrow (BM) or their contiguous growth from osseous lesions that disrupt the cortical bone is termed extramedullary multiple myeloma (EMD). EMD still remains challenging from a therapeutic and biological perspective. Pathogenesis has not been completely clarified, and it is generally associated with high-risk cytogenetics (HRCAs). In order to emphasize the clinical and biochemical complexity of this disease, we have decided to describe the case of a patient affected by relapsed-refractory (RR) EMD, which presented as para-osseous plasmacytoma with a bi-phenotypical immunoglobulin (Ig) component and lately relapsed as soft-tissue plasmacytoma with a total immunophenotype switch. We have also hypothesized a correlation between Ig patterns and prognosis and suggested the possible inclusion of these biochemical features in the general risk assessment.

Septal plasmacytoma: Dilemma of diagnosis.

Plasmacytomas are malignant tumours characterised by abnormal monoclonal proliferation of plasma cells. They may be osseous or may arise from soft tissues. Extramedullary plasmacytoma (EMP) accounts for only 1% of all head and neck malignancies. Septal plasmacytomas are extremely rare. Here, we report a case of an 80-year-old male patient with alocalised plasmacytoma arising from the nasal septum, which was resected endoscopically, with post-op radiotherapy and no recurrence in 1 year of follow-up. A multidisciplinary approach is required for the optimal diagnosis and management. It is essential to exclude any systemic involvement before arriving at a diagnosis of solitary plasmacytoma. Depending on lesion resectability, a combined therapy is the treatment of choice.

Loss of Heterozygosity and Mutations in the RAS-ERK Pathway Genes in Tumor Cells of Various Loci in Multiple Myeloma.

Multiple myeloma (MM) is a disease characterized by spatiotemporal heterogeneity of tumor clones. Different genetic aberrations can be observed simultaneously in tumor cells from different loci, and as the disease progresses, new subclones may appear. The role of liquid biopsy, which is based on the analysis of tumor DNA circulating in the blood plasma, continues to be explored in MM. Here, we present an analysis of the STR profiles and mutation status of the KRAS, NRAS, and BRAF genes, evaluated in plasma free circulating tumor DNA (ctDNA), CD138+ bone marrow cells, and plasmacytomas. The prospective single-center study included 97 patients, with a median age of 55 years. Of these, 94 had newly diagnosed symptomatic MM, and three had primary plasma cell leukemia. It should be noted that if mutations were detected only in ctDNA, "non-classical" codons were more often affected. A variety of adverse laboratory and clinical factors have been associated with the detection of rare KRAS or NRAS gene mutations in bone marrow or ctDNA, suggesting that these mutations may be factors of an unfavorable prognosis for MM. Liquid biopsy studies provide undeniable fundamental information about tumor heterogeneity and clonal evolution in MM. Moreover, we focus on using liquid biopsy to identify new high-risk factors for MM.

A rare case of maxillary sinus and buccal space involvement of extramedullary plasmocytoma: Cross-sectional imaging findings and review of the literature.

Extramedullary plasmacytoma (EMP) belongs to the group of plasma cell neoplasms, which include following entities: multiple myeloma (MM), lymphoplasmacytic lymphoma, solitary plasmacytoma of the bone (SBP) and EMP. Localization in the maxillary sinus with simultaneous involvement of the buccal cavity is rare. Misdiagnosis may lead to inappropriate or delayed management. X-ray, computed tomography (CT) scan, magnetic resonance imaging (MRI) and positron emission tomography/computed tomography (PET/CT) scan provide useful information for diagnosis. Many CT and MRI features are not specific and it is important to find specific imaging characteristics for making differential diagnosis. Our case has shown how, in the context of advanced MRI techniques, DWI is decisive in achieving the correct diagnosis of EMP The peculiarity of this case, in addition to showing the possibility, although rare, of a simultaneous involvement of EMP of the buccal cavity and of the ipsilateral maxillary sinus, presents the behavior of the EMP in various imaging methods, highlighting how diffusion-weighted imaging (DWI) played an important role to suggest the correct diagnosis and differentiating it from squamous cell carcinoma (SCC) and non-Hodgkin lymphoma (NHL).

A rare case of solitary plasmacytoma mimicking submucosal lesion of ascending colon: a case report and literature review.

Solitary primary extraosseous plasmacytoma is a rare disease in the gastrointestinal tract, recently classified as an "exceptional" tumor of the colon site. The real incidence (one case/population/year) is unknown but reasonably less than 1/10,000,000 cases/year with very few descriptions in the literature. The rare cases described in the literature are often diagnosed after surgery for perforation and with predominant localization of the left colon. The main endoscopic presentation mimics colon carcinoma with ulcerated mass and obstructing lumen. In this paper, we report a rare case of isolated mass mimicking a submucosal lesion of the ascending colon diagnosed in an older female patient by colonoscopy. The patient was almost asymptomatic; she reported only a history of hematochezia without anemia. This mass was successfully treated by surgery and followed by hematological investigations, including bone marrow biopsy, specific laboratory tests, and CT/PET scan, which confirmed primary isolated plasmacytoma of the colon.

Uncommon Presentation of Solitary Plasmacytoma in the Nasal Cavity: Diagnostic and Therapeutic Challenges.

Extramedullary solitary plasmacytoma (SP) is an uncommon tumor and is even rare in the head and neck locations. Here, we report the case of an 82-year-old man admitted to our department for the management of nasal cavity SP. Radiological investigation showed a locally advanced tumor making the patient a non-candidate for surgery. The patient had undergone radiotherapy alone to a total dose of 50 Gy, with 2 Gy per fraction five days a week. After a follow-up of nine months, the tumor recurred, and the patient was managed in the internal medicine department. He received palliative chemotherapy with the cyclophosphamide, dexamethasone, and thalidomide protocol which resulted in a good response. This case illustrates the diagnostic challenges and treatment complexities of SP, particularly in rare locations such as the nasal cavity.

Solitary Testicular Plasmacytoma: A Case Report.

INTRODUCTION: Plasmacytoma of the testis is an extremely rare malignancy that may occur as a solitary tumor, also known as solitary testicular plasmacytoma (STP), or in conjunction with multiple myeloma (MM). Previous studies have shown that STP has a good prognosis and can be cured with localized treatments like radiotherapy or surgery. We report a case of STP with dissemination to the ribs. The patient required systemic chemotherapy. CASE PRESENTATION: A 69-year-old man was referred to our hospital due to swelling of the left scrotum. The patient underwent left inguinal high orchiectomy. Based on pathological examination, the specimen was diagnosed as testicular plasmacytoma. As the tests for MM were negative, the patient was followed up. Sixteen months later, multiple bone lesions were detected in the left rims, although serum protein electrophoresis did not show the presence of M protein. Therefore, the patient received 4 courses of chemotherapy, and no signs of recurrence have been detected so far. CONCLUSION: STP is an extremely rare disease, which obscures its true prognosis. Systemic chemotherapy should be considered for patients with STP in case of recurrence, and long-term follow-up is necessary to understand the nature of the disease.

Laryngeal plasmacytoma in a patient with Down's syndrome.

Extramedullary plasmacytoma is a rare localized plasma cell neoplasm typically found in soft tissues outside the bone marrow. Predominantly occurring in the head and neck region, particularly in the sinonasal and nasopharyngeal areas, it presents a diagnostic challenge due to its uncommon nature. Herein, we report a 38-year-old female patient with Down's syndrome with a 2-year complaint of intermittent dysphonia, hoarseness, and progressive respiratory distress, including dyspnea, fatigue, and biphasic stridor. Examination via flexible laryngoscopy revealed a white lesion, prompting direct microscopic laryngeal surgery to excise a 1x1 cm mass. Histological findings confirmed the diagnosis as solitary extramedullary plasmacytoma. Notably, this represented the first documented case of laryngeal solitary extramedullary plasmacytoma in a patient with Down's syndrome. This case underscores the importance of considering tumor development in the larynx among individuals with Down's syndrome, highlighting the necessity for tailored management strategies to address such occurrences effectively. Increasing awareness of this association can aid in early detection and appropriate treatment of tumors in this population.

Multiple myeloma in a young female presenting as an aggressive skull-base tumour.

Plasma cell neoplasia has a wide presentation of disease (localised or systemic) according to the International Myeloma Working Group. Radiological imaging identifies plasmacytomas as solitary lesions or part of multiple myeloma. We present a rare case of a 21-year-old female who presented with a skull-base tumour. Contribution: A head and neck plasmacytoma with further lytic bone lesions was confirmed on imaging. This article presents and discusses the clinical, CT, MRI, positron emission tomography (PET)-CT, histology and laboratory findings.

Solitary extramedullary plasmacytoma of the lung with rapid transition to multiple myeloma : A rare case report and brief literature review.

INTRODUCTION: Solitary extramedullary plasmacytomas (SEPs) are disease entities characterized by the local proliferation of neoplastic plasma cells, representing less than 6% of plasma cell tumors. They typically produce monoclonal immunoglobulin and are usually found in the head, neck, and, less commonly, in the lungs. SEP, in rare instances, can transition to multiple myeloma (MM) with an estimated risk between 8 and 31%. CASE PRESENTATION: We report the case of a 72-year-old woman who sought medical attention at the emergency department due to acute onset dyspnea and syncope. Laboratory results revealed elevated creatinine, hypercalcemia, and anemia, all of which were absent at a hospitalization three months prior for tuberculosis. A chest x-ray showed a right upper lobe opacity, and a computed tomography (CT) scan demonstrated an apical lung mass with calcifications. A CT-guided needle aspiration of the mass indicated SEP. Bone marrow biopsy subsequently confirmed MM. The patient was admitted to the intensive care unit and treated with chemotherapy; however, following a complicated hospital course, she died. DISCUSSION: SEPs are an exceedingly rare form of malignancy with the potential for conversion to MM. Although the likelihood of transformation to MM in months is rare, we call for attention to the possibility of such transition and the clinical prognosis of patients with SEP. Prompt and aggressive treatment is essential, and this, to our knowledge, is the first case of conversion to MM in less than four months following the initial diagnosis of SEP of the lung.

A Case Report of the Atypical Presentation of Multiple Myeloma Manifesting as a Sternal Mass.

The diagnosis of multiple myeloma (MM) is made based on the presence of either marrow clonal plasma cells > 10% or an extramedullary or bony plasmacytoma confirmed by biopsy. Additionally, at least one of the SLiM (sixty years, light chain ratio, magnetic resonance imaging)-CRAB (calcium elevation, renal insufficiency, anemia, and bone lesions) myeloma-defining events must be present. MM typically presents with symptoms such as fatigue due to anemia, kidney failure, hypercalcemia, and bone pain. It is uncommon, though, for MM to manifest as a single bone mass. We report the case of a 65-year-old male who did not fit the criteria for solitary bone plasmacytoma and presented with an unusual sternal tumor. The patient was diagnosed with MM despite not having any of the traditional symptoms such as low back pain, weight loss, anemia, or hypercalcemia. The diagnosis was based on a bone marrow examination, which showed 50% plasma cells. Radiation therapy and systemic chemotherapy were then used to treat him. The patient's symptoms, radiological findings, and biopsy results are described in detail, emphasizing the difficulty and intricacy of correctly diagnosing this uncommon manifestation of MM. This case highlights the need for a comprehensive and multidisciplinary strategy to diagnose and treat atypical presentations of MM, making sure that all possible diagnostic pathways are investigated in order to achieve accurate and timely diagnosis and treatment.

Radiotherapy for Solitary Bony or Extramedullary Plasmacytoma.

Background/Aim: This study aimed to determine the oncological outcomes associated with curative radiotherapy for solitary bony or extramedullary plasmacytomas by drawing on clinical data from a single tertiary center. This study aimed to provide a comprehensive understanding of the efficacy of radiotherapeutic interventions and delineate the patterns of disease recurrence. Patients and Methods: Eleven consecutive patients diagnosed with solitary bony or extramedullary plasmacytomas and treated between May 2007 and November 2023 were retrospectively screened. Different radiotherapy doses and fractionations were employed, and statistical analyses were performed to assess overall survival (OS) and disease-free survival (DFS). Results: Among the 11 patients (9 males and 2 females), primary tumors were located within the bone in seven patients, whereas extramedullary tumors were observed in four patients. The median prescribed radiation dose was 46 Gy. The 5-year OS and DFS were 83.3% and 28.9%, respectively. Progression to multiple myeloma occurred in four patients with primary bony plasmacytoma. Local control rate was 88.9%, and one patient experienced distant metastasis after 32 months. Bony plasmacytoma has a high tendency of leading to multiple myeloma rather than extramedullary plasmacytoma (5-year progression to multiple myeloma-free survival rate, 20.8% vs. 100%, p=0.08). Conclusion: Radiotherapy is effective for solitary plasmacytomas with favorable local control and high objective response rates. A comparison with the existing literature supports the role of radiotherapy in the management of these conditions. The differences in outcomes between bony and extramedullary plasmacytomas emphasize the need for personalized treatment approaches.

Skull base plasmacytoma in young patients aged below 40 years: Radiological perspectives and clinical outcomes.

BACKGROUND: Plasmacytoma of the skull base is a rare manifestation of plasma cell neoplasm with only a few cases documented in literature involving young adults. Plasmacytoma can be an isolated solitary lesion or a secondary manifestation of multiple myeloma (MM). In this study, we report the clinical and radiological characteristics, management, and outcomes of patients under the age of 40 who presented with skull base plasmacytoma and associated neurological manifestations. Additionally, we share our experience in treating a rare case of skull base plasmacytoma diagnosed during pregnancy, in which the patient exhibited a favorable response to myeloma treatment initiated after delivery. CASE SERIES: Four patients were identified, comprising one pregnant female and three male patients, with a median age of 36 years (range 33-37 years). The main presenting symptoms were headache, dizziness, and cranial nerve palsy. All patients received underwent systemic myeloma therapy and radiotherapy with three patients also underwent autologous stem cell transplantation (ASCT). Notably, all patients achieved complete remission. CONCLUSION: Skull base plasmacytoma represents a rare manifestation of plasma cell neoplasms, underscoring the importance of considering it in the differential diagnosis of skull base lesions to ensure early intervention and avoid potential serious complications. Throughout our series, the cornerstone of therapy involved radiotherapy, systemic myeloma therapy, and ASCT, all of which elicited a favorable response in every case.

Case report: An uncommon presentation of extramedullary plasmacytoma without a concurrent diagnosis of multiple myeloma.

Introduction: Extramedullary plasmacytoma (EMP) is an uncommon solitary tumor originating from neoplastic plasma cells located outside the bone marrow. Despite its rarity, the occurrence of EMP without a concurrent diagnosis of multiple myeloma (MM) is considered extremely rare. Approximately 80-90% of EMP cases are found in the head and neck region, with a higher incidence in men aged between 50 and 60 years. The current treatment modalities include radiotherapy (RT) as a first-line approach, with surgery or chemotherapy regarded as other therapeutic options. While RT proves effective in the majority of EMP cases, there are instances where the tumor remains refractory to radiation. In this case report, we present an unusual scenario of EMP resistant to RT without concurrent signs of multiple myeloma which was successfully treated with surgery followed by systemic therapy. Case report: A 72-year-old male was admitted to the Head and Neck Cancer Clinic with a 6-month history of swallowing difficulties. He denied experiencing weight loss or pain on swallowing. Basic laboratory tests yielded results within normal limits, except for beta-2 microglobulin. Physical examination revealed an enlarged submandibular lymph node on the right side. Fiberoptic examination identified a soft tissue polypoid mass within the right piriform fossa, slightly protruding into the vocal slit. A CT scan displayed a well-circumscribed 2 cm polypoid, homogeneously enhancing soft tissue mass adjacent to the posterior surface of the epiglottis and the right side of the tongue base. Bone marrow biopsy revealed no abnormalities, and there were no clinical or laboratory signs of multiple myeloma. Based on the tumor biopsy results and imaging studies, a diagnosis of EMP was made. Due to the lack of response to RT, surgical removal of the tumor was pursued, followed by systemic therapy. Ultimately, the patient achieved full recovery with effective disease control. Conclusion: In conclusion, EMP without concurrent multiple myeloma is an exceedingly rare condition that demands a multidisciplinary approach for both diagnosis and treatment. Moreover, although RT continues to be the primary standard treatment for EMP, in some cases other therapeutic regimens prove to be successful.

LncRNA PVT1 facilitates the growth and metastasis of colorectal cancer by sponging with miR-3619-5p to regulate TRIM29 expression.

BACKGROUND: Colorectal cancer (CRC) is the second most common cause of cancer-related death worldwide. Long noncoding RNA (lncRNA) is involved in many malignant tumors. This study aimed to clarify the role of the lncRNA plasmacytoma variant translocation 1 (PVT1) in CRC growth and metastasis. METHODS: Differentially expressed lncRNAs in CRC were analyzed using the Cancer Genome Atlas. Gene expression profiling interactive analysis and a comprehensive resource for lncRNAs from cancer arrays databases were used to analyze lncRNA PVT1 expression and CRC prognosis, respectively. Cell counting kit-8, wound healing, colony formation, Transwell, and immunofluorescence assays were used to evaluate CRC cell proliferation, migration, invasion, and epithelial-mesenchymal transition (EMT), respectively. Tumor growth and metastasis models were used to explore the PVT1 effect on the growth and metastasis of CRC in vivo. RESULTS: PVT1 was highly expressed in CRC, associated with a poor prognosis of CRC, and showed good diagnostic value. Transfection of sh-PVT1 or pcDNA3.1-PVT1 reduced or increased the proliferation, wound healing rate, colony formation, invasion, and EMT of CRC cells. PVT1 and miR-3619-5p were co-expressed in CRC cytoplasm, and PVT1 acted as a competitive endogenous RNA (ceRNA) by sponging miR-3619-5p to up-regulate tripartite motif containing 29 (TRIM29) expression. MiR-3619-5p overexpression and TRIM29 knockdown reduced proliferation, wound healing rate, invasion, and EMT of CRC cells. However, simultaneous PVT1 and miR-3619-5p overexpression or knockdown of miR-3619-5p and TRIM29 knockdown rescued the malignant phenotype of CRC cells. CONCLUSIONS: We first clarified the ceRNA mechanism of PVT1 in CRC, which induced growth and metastasis by sponging with miR-3619-5p to regulate TRIM29.

Cutaneous plasmacytoma with Mott cell differentiation in a dog.

Cytologic evaluation of aspirate slides from a small, <1-cm, interdigital mass on a 9-y-old, spayed female Yorkshire Terrier revealed a proliferation of discrete, round cells containing few-to-many, variably sized, round, eosinophilic, cytoplasmic inclusions. The top differentials based on the cytologic findings were either a plasma cell tumor or a B-cell lymphoma with Mott cell differentiation. The unencapsulated, well-demarcated, multilobulated round-cell neoplasm was completely excised. Immunohistochemical stains were performed to further characterize the neoplasm, which had immunolabeling for multiple myeloma oncogene 1 and vimentin, but did not react with CD3, CD20, melan A, or ionized calcium-binding adapter molecule 1, nor with a Giemsa special stain. Ultrastructurally, the cytoplasmic granules had Russell body-like morphology. A solitary, cutaneous plasmacytoma with Mott cell differentiation has not been described previously in veterinary medicine, to our knowledge.

A Rare Tumor Causing Optic and Oculomotor Nerve Compression: Clivus Plasmacytoma Case Report.

Plasmacytomas rarely affect the skull base and may be found as an isolated lesion or as a part of multiple myeloma. The typical feature of plasmacytomas is aggressive bone destruction in the skull. It is often confused with the chordoma of the clivus. The most common location for skull-base plasmacytomas is the nasopharynx. The most commonly affected cranial nerve in clivus tumors is the abducens nerve. In our 64-year-old male case, a plasmacytoma was detected in the clivus. There was ptosis and decreased vision due to optic nerve and oculomotor nerve involvement due to the plasmacytoma. Radiotherapy was applied for the treatment.

Isolated Abducens Nerve Palsy: A Rare Manifestation of Recurrent Extramedullary Myeloma.

Multiple myeloma is a plasma cell neoplasm, which may present as a solitary plasmacytoma and, uncommonly, as an extramedullary plasmacytoma. Intracranial plasmacytomas may manifest in central nervous system involvement as cranial nerve palsies. Cranial nerve six palsy is the most common in cases of malignancy. However, isolated abducens palsy presenting as multiple myeloma recurrence is very uncommon. Here, we detail two cases in which intracranial plasmacytoma lesions were present within the region of the Dorello canal, resulting in acute isolated unilateral diplopia from disease recurrence in the absence of systemic marrow involvement.