MULTIPLE MYELOMA AND OTHER PLASMA CELL DISEASES

multiplemyelomawos

DIAGNOSIS AND MANAGEMENT OF PLASMA CELL LEUKEMIAAND EXTRAMEDULLARY DISEASE

Ebru Kılıç Güneş1 Ümit Yavuz Malkan2

1University of Health Sciences, Gülhane Training and Research Hospital, Department of Hematology, Ankara, Türkiye
2Hacettepe University, Faculty of Medicine, Department of Hematology, Ankara, Türkiye

Kılıç Güneş E, Malkan ÜY Diagnosis And Management of Plasma Cell Leukemia and Extramedullary Disease. In: Sevindik ÖG, editor. Multiple Myeloma and Other Plasma Cell Dyscrasias. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.93-106.

ABSTRACT

Extramedullary Disease (EMD) There is currently no consensus on the definition of EMD. Some perspectives define EMD solely as extraosseous soft tissue masses resulting from hematologic spread (known as “extraosseous” EMD). Other groups, however, include bone-related (or paraskeletal) plasmacytomas. EMD can present at initial diagnosis (primary EMD) or arise at the time of relapse (secondary EMD). The most commonly reported site of extramedullary involvement at diagnosis is skin involvement, while in relapsed refractory patients, areas of involvement include the liver, lymph nodes, kidneys, CNS, breast, and pleura. EMD is considered a high-risk factor, with reported survival of less than one year in relapsed/refractory patients. Due to the lack of sufficiently large prospective studies, discrepancies exist in the literature regarding the incidence of EMD. Although many genetic risk factors have been identified, the exact impact of these anomalies on the pathogenesis of EMD remains unclear. Developing guidelines that position radiotherapy, chemotherapy, novel therapeutic agents in the management of EMD is crucial. Plasma Cell Leukemia (PCL) Plasma cell leukemia (PCL) is a rare but highly aggressive plasma cell dyscrasia characterized by high proliferative activity and increased genetic instability. According to the International Myeloma Working Group (IMWG)-2021 criteria, the presence of ≥5% morphologically evaluated plasma cells in peripheral blood is sufficient for a PCL diagnosis. As morphology is used for diagnosing PCL, the evaluation of peripheral smears is crucial. When diagnosed in patients without a prior MM diagnosis, it is referred to as de novo or primary PCL (pPCL), whereas it is defined as secondary PCL (sPCL) when it transforms from a leukemic form in patients with a previous MM diagnosis. Although the diagnostic evaluation and treatment of PCL are similar to those of MM, survival rates remain lower for PCL despite new therapeutic agents and auto-SCT. With its rapid clinical course, the median survival for PCL is reported to be 1-3 years. Due to the rarity of pPCL, studies examining optimal treatment options are limited, with most studies being small-scale and retrospective. In recent years, modern targeted therapies and immunotherapies have shown promising results. However, given the poor prognosis of PCL, no standardized treatment algorithm has been established. Treatment strategies focus on rapid disease control and relapse prevention and include high-dose chemotherapy, hematopoietic stem cell transplantation (HSCT), and maintenance therapy.

Keywords: Multiple myeloma; Leukemia; Plasma cell; Neoplasms; Hematopoietic stem cell transplantation

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