Figure 1.
Disease characteristics of affected twins with iMCD. (A) Pedigree chart of affected twins with iMCD (red circles). (B) Representative 18-FDG PET/CT images in the affected twins. Twin-CS: enlarged, hypermetabolic lymph nodes in the neck, axilla, chest, abdomen and pelvis, as well as diffuse increased FDG uptake in the bone marrow and spleen. Twin-CM: enlarged, hypermetabolic lymph nodes in the neck, axilla, and pelvis, as well as diffuse increased FDG uptake in the bone marrow. Orange arrows: enlarged lymph nodes (short axis diameter ≥1 cm). Asterisk: bone marrow involvement. (C) Medullary and interfollicular CD138+/HHV8− plasma cells in the lymph node from Twin-CS (scale bar, 500 μm). (D) Dual immunohistochemistry for CD138 (red)-cyclin D1 (brown) and MUM1 (red)-CD56 (brown) showing that mature plasma cells in the bone marrow are CD138+/cyclin D1− and MUM1+/CD56−. Physiological expression of cyclin D1 can be observed in scattered histiocytic nuclei and expression of CD56 is seen in osteoblastic rims surrounding a bony trabeculae (scale bar, 100 μm). (E) 18-FDG PET/CT showing hypermetabolic enlargement and metabolic progression of axillary nodal disease (red arrows, axillary nodes) 42 months from diagnosis for Twin-CS (SUVmax, 3.9-5.4; short axis diameter, 1.5-1.7 cm). (F) Increasing serum total protein levels along with disease progression. A transient decline in immunoglobulin levels was observed after 4 doses of rituximab therapy. Dotted lines represent upper limit of normal ranges of protein levels. Red arrow indicates start of rituximab therapy. (G) Rapid and sustained decline of IL-6 levels after rituximab treatment in Twin-CS (week 1, 303.3 pg/mL; week 2, 10.2 pg/mL; week 16, 6.7 pg/mL; week 72, 0.7 pg/mL). As comparison, IL-6 level of affected but asymptomatic Twin-CM was 16.9 pg/mL and was not detectable (n.d.) in the unaffected sister. Results are represented by mean values and standard deviations (error bars). Panels B and C are illustrated again in supplemental Figure 1. (H) 18-FDG PET/CT showed hypermetabolic bilateral axillary lymph nodes demonstrating interval stability (red arrows) for Twin-CM. (I) Trend of serum total protein, IgG, IgA, and IgM levels from diagnosis and follow-up for Twin-CM. IgG, immunoglobulin G; SUVmax, maximum standardized uptake value.

Disease characteristics of affected twins with iMCD. (A) Pedigree chart of affected twins with iMCD (red circles). (B) Representative 18-FDG PET/CT images in the affected twins. Twin-CS: enlarged, hypermetabolic lymph nodes in the neck, axilla, chest, abdomen and pelvis, as well as diffuse increased FDG uptake in the bone marrow and spleen. Twin-CM: enlarged, hypermetabolic lymph nodes in the neck, axilla, and pelvis, as well as diffuse increased FDG uptake in the bone marrow. Orange arrows: enlarged lymph nodes (short axis diameter ≥1 cm). Asterisk: bone marrow involvement. (C) Medullary and interfollicular CD138+/HHV8− plasma cells in the lymph node from Twin-CS (scale bar, 500 μm). (D) Dual immunohistochemistry for CD138 (red)-cyclin D1 (brown) and MUM1 (red)-CD56 (brown) showing that mature plasma cells in the bone marrow are CD138+/cyclin D1− and MUM1+/CD56−. Physiological expression of cyclin D1 can be observed in scattered histiocytic nuclei and expression of CD56 is seen in osteoblastic rims surrounding a bony trabeculae (scale bar, 100 μm). (E) 18-FDG PET/CT showing hypermetabolic enlargement and metabolic progression of axillary nodal disease (red arrows, axillary nodes) 42 months from diagnosis for Twin-CS (SUVmax, 3.9-5.4; short axis diameter, 1.5-1.7 cm). (F) Increasing serum total protein levels along with disease progression. A transient decline in immunoglobulin levels was observed after 4 doses of rituximab therapy. Dotted lines represent upper limit of normal ranges of protein levels. Red arrow indicates start of rituximab therapy. (G) Rapid and sustained decline of IL-6 levels after rituximab treatment in Twin-CS (week 1, 303.3 pg/mL; week 2, 10.2 pg/mL; week 16, 6.7 pg/mL; week 72, 0.7 pg/mL). As comparison, IL-6 level of affected but asymptomatic Twin-CM was 16.9 pg/mL and was not detectable (n.d.) in the unaffected sister. Results are represented by mean values and standard deviations (error bars). Panels B and C are illustrated again in supplemental Figure 1. (H) 18-FDG PET/CT showed hypermetabolic bilateral axillary lymph nodes demonstrating interval stability (red arrows) for Twin-CM. (I) Trend of serum total protein, IgG, IgA, and IgM levels from diagnosis and follow-up for Twin-CM. IgG, immunoglobulin G; SUVmax, maximum standardized uptake value.

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