HAEM4Backup:Plasma Cell Myeloma Variants
 | This page is under construction |
Primary Author(s)*
- Fariborz Rashid-Kolvear, PhD, FACMG, FCCMG
Cancer Category/Type
In 2017 WHO Classification, plasma cell myeloma (PCM) variants are classified under the categories of Mature B cell Neoplasm/Plasma cell neoplasms (PCN)[1]
Cancer Sub-Classification / Subtype [1]
1 - Smoldering (asymptomatic) plasma cell myeloma (SPCM)
2 - Non-secretory myeloma
3 - Plasma cell leukemia (PCL)
Definition / Description of Disease
1- Smoldering (asymptomatic) plasma cell myeloma (SPCM):
Both criteria must be met [2]:
- Serum monoclonal protein (IgG or IgA) ≥ 30g/L or urinary monoclonal protein ≥ 500mg per 24h and/or clonal bone marrow plasma cells 10-60%
- Absence of myeloma-defining events or amyloidosis
2 - Non-secretory myeloma:
- Absence of an M protein by serum and urine immunofixation electrophoresis
- 85% of cases have M protein evaluated by IHC (producer myeloma)
- 15% of cases have no cytoplasmic Ig synthesis (non-producer myeloma)
3 - Plasma cell leukemia:
Neoplastic plasma cells in the blood is greater than 20% of the total leukocytes or the absolute plasma cell count exceeds 2 × 109/L.
Primary PCL: present at the time of initial diagnosis (~60% to 70%)
Secondary PCL: evolving during the course of disease in a patient with previously diagnosed myeloma
Synonyms / Terminology
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Epidemiology / Prevalence
1- Smoldering (asymptomatic) plasma cell myeloma (SPCM):
About 8% to 14% of patients with PCM are asymptomatic at the time of diagnosis
2 - Non-secretory myeloma:
Approximately 1% of PCMs
3 - Plasma cell leukemia:
Primary PCL is found in approximately 2% to 4% of cases of myeloma
Secondary PCL is a leukemic transformation that occurs in approximately 1% of previously diagnosed PCM
Clinical Features
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Sites of Involvement
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Morphologic Features
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Immunophenotype
Refer to Plasma cell myeloma page.
| Finding | Marker |
|---|---|
| Positive (universal) | EXAMPLE CD1 |
| Positive (subset) | EXAMPLE CD2 |
| Negative (universal) | EXAMPLE CD3 |
| Negative (subset) | EXAMPLE CD4 |
Chromosomal Rearrangements (Gene Fusions)
Adapted from
| Chromosomal Rearrangement | Pathogenic Derivative | Prevalence |
|---|---|---|
| Cyclin D translocation | ||
| t(6;14)(p25;q32) | CCND3 | 2% |
| t(11;14)(q13;q32) | CCND1 | 16% |
| t(12;14)(p13;q32) | CCND2 | <1% |
| NSD2 (MMSET) translocation | ||
| t(4;14)(p16;q32) | NSD2 and FGFR3 | 15% |
| MAF translocation | ||
| t(8;14)(q24;q32) | MAFA | 1% |
| t(14;16)(q32;q23) | MAF | 5% |
| t(14;20)(q32;q11) | MAFB | 2% |
| Chromosome 1 abnormalities | ||
| Loss of 1p | ||
Characteristic Chromosomal Aberrations / Patterns
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Genomic Gain/Loss/LOH
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| Chromosome Number | Gain/Loss/Amp/LOH | Region |
|---|---|---|
| EXAMPLE 8 | EXAMPLE Gain | EXAMPLE chr8:0-1000000 |
| EXAMPLE 7 | EXAMPLE Loss | EXAMPLE chr7:0-1000000 |
Gene Mutations (SNV/INDEL)
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| Gene | Mutation | Oncogene/Tumor Suppressor/Other | Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) | Prevalence (COSMIC/TCGA/Other) |
|---|---|---|---|---|
| EXAMPLE TP53 | EXAMPLE R273H | EXAMPLE Tumor Suppressor | EXAMPLE LOF | EXAMPLE 20% |
Other Mutations
| Type | Gene/Region/Other |
|---|---|
| Concomitant Mutations | EXAMPLE IDH1 R123H |
| Secondary Mutations | EXAMPLE Trisomy 7 |
| Mutually Exclusive | EXAMPLE EGFR Amplification |
Epigenomics (Methylation)
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Genes and Main Pathways Involved
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Diagnostic Testing Methods
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Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)
Table from S. Vincent Rajkumar [3]
| Chromsome abnormalities | Smoldering plasma cell myeloma |
|---|---|
| Trisomies | Intermediate‐risk of progression, median TTP* of 3 y |
| t(11;14) (q13;q32) | Standard‐risk of progression, median TTP of 5 y |
| t(6;14) (p21;q32) | Standard‐risk of progression, median TTP of 5 y |
| t(4;14) (p16;q32) | High‐risk of progression, median TTP of 2 y |
| t(14;16) (q32;q23) | Standard‐risk of progression, median TTP of 5 y |
| t(14;20) (q32;q11) | Standard‐risk of progression, median TTP of 5 y |
| Gain(1q21) | High‐risk of progression, median TTP of 2 y |
| Del(17p) | High‐risk of progression, median TTP of 2 y |
| Trisomies plus any one of the IgH translocations | Standard‐risk of progression, median TTP of 5 y |
| Isolated monosomy 13, or isolated monosomy 14 | Standard‐risk of progression, median TTP of 5 y |
| Normal | Low‐risk of progression, median TTP of 7–10 y |
* TTP: Time To Progression
Familial Forms
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Other Information
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Links
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References
(use "Cite" icon at top of page)
- ↑ 1.0 1.1 Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p249-250
- ↑ Sv, Rajkumar; et al. (2014). "International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma". PMID 25439696.
- ↑ Sv, Rajkumar (2020). "Multiple myeloma: 2020 update on diagnosis, risk-stratification and management". PMID 32212178 Check
|pmid=value (help).
EXAMPLE Book
- Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.
Notes
*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.