Session 1 Plasma Cell Myeloma



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Session 1 Plasma Cell Myeloma Case 250 Plasma cell myeloma with other lymphoid malignancies or MBL Antonio Hernandez, MD, Ameripath Central Florida Society for Hematopathology European Association for Haematopathology Workshop Case 258 Case 347 Andrew Wotherspoon, MD, Royal Marsden Hospital Mohamed Salama MD, et al., University of Utah Michael Loken, PhD, HematoLogics Mohamed Salama, MD Mohamed Salama, MD 69 yo female presented with anemia, renal failure & paraproteinemia CBC: WBC 4 K/µL, Hgb 7.1 g/dl, Plts 122K/µl. Serum protein studies: TP 9.3 g/dl with 4 g/dl paraprotein IgG 7 g/dl, with suppressed IgA & IgM IFE: free λ LC Mohamed Salama, MD Cells sorted: CD138+ CD19+/CD138- CD138+ cells FISH: 13q14.2 (D13S319) Nl 14q32 (IgH) Nl 17p13.1 (TP53) Nl 11q13 (CCND1) 3 signals (81.5%) CD19+ cells FISH: 13q14.2 (RB1) 1 signal (75%) 13q14.3 (D13S25) 1 signal (75%) 11q22.3 (ATM) Nl Chromo 12 (D12Z3) Nl 17p13.1 (TP53) Nl FISH del(13)(q22.3) (RB1) Plasma Cell Myeloma and Monoclonal B-Cell Lymphocytosis

Concurrent PCM & small B-cell LPD Differential diagnosis: synchronous PCM & small B-cell LPD PCM with small lymphocyte-like morphology, t(11;14) lymphoplasmacytic lymphoma MALT lymphoma marginal zone lymphoma CLL/SLL with plasmacytic differentiation Evaluation Correlation with clinical findings & serum protein studies Molecular/cytogenetic studies Immunophenotyping Concurrent PCM & small B-cell LPD Plasma cell immunophenotypic differences CyclinD1 CD56, CD45, CD19 (Seegmiller et al. AJCP2007;127:176-81, Moriceet al. Mod Pathol 2009;22:807-16) (Seegmiller et al. AJCP 2007;127:176-81) Plasma cell myeloma with t(11;14) Case 22 Jennifer Hummel, MD,MPh 59 y/o male with fatigue, rib pain, and headache. CyclinD1 Case 22 Case 51 Case 66 Case 106 Case 241 Case 284 Jennifer Hummel, MD,MPh, et al., University of Michigan Ming Xie, MD, William Beaumont Hospital David Viswanatha, MD, Mayo Clinic James Hoyer, MD, et al., Mayo Clinic Darshan Roy, MD, et al., Hospital of the University of Pennsylvania Alexandra Harrington, MD, et al., Medical College of Wisconsin Gerald Penn, MD,PhD, Mary Rutan Hospital Lab studies: WBC 8.9K/µL, Hgb 9.0 g/dl, calcium 14.0 mg/dl, creatinine 2.5 mg/dl, IgM κ paraprotein, 6.1 g/dl. Bone scan: Multiple osteolytic lesions involving axial & appendicular skeleton PCs: Cyclin D1+, CD20- IGH/CCND1 FISH + PC gate Lymph gate Case 22 Plasma Cell Myeloma, with t(11;14) and IgM paraprotein Case 51 Ming Xie, MD 86 y/o male with atypical lymphocytosis, back pain, CRF, & Ca. SPEP: Free λ LC WBC 29.4 K/µL, lymphs 24.26 K/µL, Hgb 9.0 g/dl; Hct 28.2%; plt 21 K/µL CT: osteolytic lesions in spine, pelvis & ribs Cytogenetics: 45,X,-Y,t(11;14)(q13:q32),-13, -21

Case 51 Plasma Cell Myeloma/Leukemia, with t(11;14) David Viswanatha, MD 60 yo male, previously well, presented in 2003 with anemia & elevated TP with IgG κ paraprotein; no organomegaly or lytic lesions Diagnosed as LPL; received R-CVP Worsening disease, presented at Mayo in 2008 FISH for IGH/CCND1 + CD20 PAX5 Cyclin D1 David Viswanatha, MD Plasma Cell Myeloma, with t(11;14), with IgG paraprotein Positive: CD19, CD20, CD23, CD38, CD138, κ LC (surface & cyto) Negative: CD5, CD10, CD22, CD45 Plasma cell myeloma with t(11;14) The t(11;14) is the commonest cytogenetic lesion in PCM, detected in ~25% of PCMs Features of t(11;14)+ PCM: Small lymphocyte-like or lymphoplasmacytoid PCM (Hoyer et al. AJCP; Garand et al. Leukemia) CD20 positivity (Robillard et al. Blood; Cook et al. AJCP) 50-66% of cases More commonly hypo- or non-secretory (Fonseca et al. Blood; Avet-Loiseau et al. Blood) Frequently detected in IgM PCM (Avet-Loiseau et al Blood; Rawstron et al. BJH; Bansal et al. in preparation) 60-90% of cases CD20-, CD56-, CD117- PCM with t(11;14) Variable morphology, including lymphoplasmacytoid/ small lymphocyte-like, which can morphologically & immunophenotypically mimic small B-cell lymphomas with plasmacytic differentiation Thorough immunophenotypic characterization, including cyclin D1(strong nuclear), is critical Cytogenetics and/or FISH to detect the t(11;14) is critical Correlation with clinical and radiologic findings

Case 91 Case 249 Case 306 Plasmacytoma John Frater, MD, et al., Washington Univ. School of Medicine Suparna Nanua MD, PhD, et al., Washington Univ School of Medicine Russell Ryan, MD, et al., Massachusetts General Hospital Deniz Peker, MD, et al., Mount Sinai Medical Center René P Michel, MD, McGill University Case 91 John Frater, MD 80 y/o male presented in 2006 to an OS hospital with R nasal obstruction; underwent nasal endoscopic surgery with bx, which was reportedly negative for malignancy In late 2008: recurrent R nasal obstruction. A nasal polyp was biopsied Upon transfer to WUMC : CBC & LDH were WNL; HIV- SPEP/IFE identified an IgG λ serum paraprotein, 1.4 g/dl No LAD or bony lesions on CT BMBX: mild plasmacytosis with no LC restriction Case 91 John Frater, MD Case 91 Extramedullary plasmacytoma Russell Ryan, MD 59 y/o male presented with vomiting, diarrhea, weakness & renal failure. Endoscopy: prominent gastric folds. Bx: PC-rich MALT lymphoma Russell Ryan, MD 15 mos later, he developed severe right hip pain. CT-abd revealed multiple bony lesions, which were FDG-avid on PET scan Serum protein studies: Panhypogammaglobinemia λ FLC at 21,700 mg/l IgH PCR (gastric bx): + API2/MALT1 PCR: - FISH (fem head) : del(13q)

Plasma Cell Myeloma, Extramedullary Involvement Suparna Nanua MD, PhD 69 yo AA woman with IgA λ M- protein in 2004; Neg skeletal survey In 11/07, worsening anemia due to upper GI bleed; endoscopy: ulcerated duodenal mass Neg skeletal survey BM ~5% PCs with λ LC restriction Radiation therapy 1 year later, additional masses in the upper respiratory tract and lytic lesions in spine and humerus, & peritoneal/pleural effusions CD20 Suparna Nanua MD, PhD CD138 λ κ Plasma Cell Myeloma, Extramedullary Involvement Extramedullary plasmacytoma Middle age-elderly Anatomic location:upperaerodigestive tract >> GI tract > other sites (lymph node, testis, skin, lung) Most commonly mature plasma cell proliferation, with light chain-restricted Pathologic differential diagnosis: Extramedullary involvement by PCM Lymphomas with pronounced plasmacytic differentiation (e.g., MALT lymphoma) Castleman disease, plasma cell type Reactive or inflammatory disorders Plasmacytoma Extramedullary Osseous Anatomic Upper aero- Axial skeleton, location digestive tract mainly vertebrae M:F 2:1 2:1 M-protein 25% of patients, 60% of patients, typically very low usually low Prognosis Excellent with excision Most evolve to & XRT systemic disease 5-30% local recurrence (Dores et al. BJH 2008;144:86-94, Ramsingh et al. BJH 2009; 145:540-2)

EMP vs Extramedullary PCM Significant morphologic & immunophenotypic overlap, but some helpful differences High-grade morphology rare in EMP CD56 + 70% PCM + 77% extramedullary PCM + 10% EMP Cyclin D1 Associated with t(11;14), ~25% of PCM + ~33% PCM (intra- & extramedullary) + 0% EMP EMP vs Extramedullary PCM Cytogenetic/molecular differences Bink et al. (Haematologica 2008;93:623-6) 38 cases, well characterized clinically & pathologically Cytogenetic findings: 6/38 (16%) t(4;14) 31/38 (82%) chromosomal gains (1, 3, 5, 8, 9, 11, 15) 15/38 (40%) del(13q) No t(11;14), t(14;16), or t(8;14) (Kremer et al. J Pathol 2005;205:92-101) Lessons learned from the workshop cases Location, location, location! Cyclin D1 immunohistochemistry is critical Correlation with clinical & radiologic findings and serum/urine protein studies