-

- no history of plasma cell myeloma or other malignancy

-

+ Patient had solvent and formaldehyde exposures.

36 yrs

F

-

-

-

-

14.4

11.1

74

Hypercellular marrow 100% with near-total replacement by sheets of malignant plasma cells ranging from small uninuclear to very large multinucleated cells with prominent nucleoli, and high mitotic activity (Figure 2A).

WBC: 14.4x10⁹/L 40% plasma cells with atypical features, Hb; 11.1g/dl, hematocrit of 33.5%, platelets; 74,000x10⁹

Flow cytometry on peripheral blood showed an abnormal clonal plasma cell population expressing CD38, CD138, and dim CD45, with lambda chain restriction.

Not performed.

CT scan, MRI and bone scan revealed T5 soft tissue mass, multiple osteolytic lesions in skull, ribs, vertebra and iliac crest.

Not performed.

Plasma cell leukemia (PCL).

05-2008

Steroid, Zometa, radiation, stem cell transplant.

- short remission.

-

+ her disease recurred and spread to extramedullary sites spleen and lymph nodes; expired 5 months after diagnosis

D

10-2008

5 from initial diagnosis

peripheral blood

24 and 48 hours unstimulated cultures

GTG

43,X,-X,del(1)(p13p36.1),-2,hsr(5)(q31),del(8)(q22q24.1),del(12)(q14q24.1),-13,t(14;16)(q32;q23),del(15)(q22),-16,del(17)(p11.2),hsr(17)(q24),add(20)(q13.3), +mar[cp14]/46,XX[6] (Figure 1).

Fluorescence in situ hybridization using LSI D13S319/LAMP, TP53 and IGH/MAF DNA probes (Abbott Molecular) revealed loss of chromosome 13, deletion of p53 and IGH-MAF/t(14;16) in approximately 60% of interphase cells.

Furthermore, hybridization with LSI IGH/CMYC/CEP-8 probe set showed that the two copies of hsr were entirely labeled with CMYC (Figure 2B).

The presence of an hsr in this case is also associated with a very bizarre plasma cell morphology and dismal clinical course. As seen in our patient, dmin and hsr have been described in association with deletion of 17p13/p53, suggesting that loss of p53 primes leukemic cells by increasing their survival, therefore allowing deregulation of other oncogenes such as CMYC and RAS. Still the molecular events that allow the plasma cells to escape the bone marrow environment are unclear. Sequential involvement and cooperation of multiple oncogenes and tumor suppressor genes, as well as other epigenetic events, are required for plasma cell expansion into the peripheral blood and extramedullary tissues.