 Abstract | | |
The authors here present a rare case of systemic amyloidosis with multiple myeloma. The patient was a 55-year-old man who presented with complaints of dysphagia and skin lesions. From clinical examination and endoscopic findings, gastric carcinoma was suspected and biopsy was taken from the gastric lesion. Histopathological examination of gastrointestinal biopsy revealed amyloid deposits. The patient also had multiple skin lesions, which also showed cutaneous amyloidosis. Owing to the presence of gastric amyloidosis, the patient was investigated further with serum electrophoresis and bone marrow biopsy, which revealed multiple myeloma.
Keywords: Amyloidosis, bone marrow, multiple myeloma
How to cite this article:
Mathialagan J, Sowmya S. Amyloidosis masquerading as gastric carcinoma - A case report. Indian J Pathol Microbiol 2020;63:119-21 |
| Introduction | |  |
Amyloidosis is the extracellular deposition of misfolded beta fibrillary protein, and it can be systemic, localized, or hereditary.[1] Multiple myeloma is the clonal malignant proliferation of plasma cells. Usually, amyloid deposits are observed as an incidental finding in multiple myeloma patients.[2] However, rarely, they present as first lesions warranting the need to evaluate for underlying plasma cell dyscrasias. There are only a few cases of multiple myeloma coexisting with multi-systemic amyloidosis reported in the literature.
| Case History | | |
We herein report a case of a 55–year-old male who presented with chief complaints of difficulty in swallowing solid food for 4 months and associated with indigestion. There was no history of abdominal pain/loose stools/vomiting/diabetes/hypertension. Barium swallow study performed a few months back showed normal findings. On examination, systemic findings were normal, but multiple hyper-pigmented velvety plaques and shiny papules over forehead and cheeks were noticed. Owing to the patient's age and present complaints, gastric carcinoma was suspected.
The patient was subjected to upper gastrointestinal endoscopy, which revealed inflamed mucosa in the antrum and edematous mucosa of the duodenum. Biopsy from both areas taken revealed homogenous eosinophilic deposits in the lamina propria. Similar non-concentric eosinophilic deposits around blood vessel were also seen [Figure 1]a and [Figure 1]b. Hence, a diagnosis of gastrointestinal amyloidosis was given.{Figure 1}
Skin biopsies from forehead and cheeks were taken, and histopathologic evaluation revealed homogenous eosinophilic deposits in dermal-epidermal junction and around eccrine coils in dermis diagnostic of cutaneous amyloidosis.
In view of multiple organ involvement of amyloidosis, further evaluation to rule out underlying plasma cell dyscrasias was suggested. Patient came for review a month later and was referred to general medicine for a complete workup. Physical examination revealed macroglossia of tongue and purpuric lesions in neck. Systemic examination was normal.
Laboratory investigations revealed normocytic normochromic anemia, mildly elevated 24 h urine protein, and reduced calcium level. Urine Bence Jones protein was negative. Serum protein electrophoresis showed a positive M band. However, 2d echo showed grade 2 diastolic dysfunction. N-terminal B-type natriuretic peptide (NT-pro BNP) was elevated (1159 pg/mL). The roentgenogram of the skull was taken, which revealed a single lytic lesion. Bone marrow biopsy was done, which revealed replacement of marrow by sheets of plasma cells that accounted for about 65% as shown in [figure 1]c and [Figure 1]d. In our patient, serum M band positivity was taken as an indirect test for the determination of plasma cell clonality. Biopsy from bone marrow showed features of multiple myeloma, and a final impression of primary systemic amyloidosis with multiple myeloma was given.
| Discussion | | |
Amyloidosis is also known as beta fibrillosis. It is of 2 types – Amyloid A (AA) (localized) seen in chronic inflammatory disorders such as chronic inflammatory arthritis and chronic infections; and Amyloid light chain (AL) (systemic) seen due to Ig light-chain deposition secondary to plasma cell dyscrasias.[3] While the kidney is the most common organ involved in systemic amyloidosis, involvement of heart, skin, and gastrointestinal tract has also been documented.[4] Under light microscopy, amyloid appears as a homogenous extracellular eosinophilic deposit. Some of the strains used for demonstrating amyloid include congo red, which shows apple-green birefringence under a polarizing microscope, toluidine blue, crystal violet, and thioflavine.[1]
Systemic amyloidosis shows characteristic perivascular deposition, which is absent in localized amyloidosis. The most common cause of systemic amyloidosis is plasma cell dyscrasias, which include monoclonal gammopathy of unknown significance and multiple myeloma.[5],[6]
Multiple myeloma is the clonal malignant proliferation of plasma cells. The updated criterion by The International Myeloma Working Group (IMWG) for the diagnosis of multiple myeloma is clonal bone marrow plasma cells >10%/biopsy-proven bony or extramedullary plasmacytoma along with any one of the following:
- Evidence of end-organ damage – Hypercalcemia (>11 mg/dl), renal failure (creatinine clearance <40 ml/min), anemia (Hb <10 mg/dl), and bone lytic lesion (1 or more)
- Clonal bone marrow plasma cells 60% or more
- Involved: uninvolved serum-free light-chain ratio >/= 100
- 1 or more focal lesions in bone on MRI (size 5 mm minimum).[7]
In this patient, there was more than 60% plasma cell in the marrow. He also had multisystem amyloidosis with the involvement of gastrointestinal tract, skin, heart, and also a lytic lesion of the skull bone.
| Conclusion | | |
The presence of amyloidosis in the gastrointestinal tract is very rare and usually occurs as a part of systemic amyloidosis. Multiple myeloma commonly manifests with skeletal and renal involvement. In this case, the primary clinical diagnosis was gastric carcinoma, but the microscopic identification of pink amyloid deposits was crucial and leads us to detect the underlying lesion of multiple myeloma, which has even more grim prognosis than epithelial malignancy.
This case re-emphasizes the need for meticulous microscopic examination and the need to go beyond clinician's diagnosis to detect such unusual lesions.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Acknowledgments
I extend my heartfelt thanks to the Department of Medical Gastroenterology, Department of Dermatology and Venereology and Leprosy and Department of General Medicine of Mahatma Gandhi Medical College and Research Institute, Sri Balaji Vidyapeeth Deemed to be University, Pillaiyarkuppam, Puducherry- 607402, India for sharing the details of this case.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | LachmannHJ, Goodman HJ, Gilbertson JA, Gallimore JR, Sabin CA, Gillmore JD, et al. Natural history and outcome in systemic AA amyloidosis.N Eng J Med 2007;356:361-71.  |
| 2. | Raab MS, Podar K, Breitkreutz I, Richardson PG, Anderson KC. Multiple myeloma. Lancet 2009;374:324-39. |
| 3. | Pinney JH, Smith CJ, Taube JB, Lachmann HJ, Venner CP, Gibbs SD, et al. Systemic amyloidosis in England: An epidemiological study. Br J Haematol 2013;161:525-32. |
| 4. | Said SM, Sethi S, Valeri AM, Leung N, Cornell LD, Fidler ME, et al. Renal amyloidosis: Origin and clinicopathologic correlation of 474 recent cases. Clin J Am SocNephrol 2013;8:1515-23. |
| 5. | Rajkumar SV, Gertz MA, Kyle RA. Primary systemic amyloidosis with delayed progression to multiple myeloma. Cancer 1998;82:1501-5. |
| 6. | Desikan KR, Dhodapkar MV, Hough A, Waldron T, Jagannath S, Siegel D, et al. Incidence and impact of light chain associated (AL) amyloidosis on the prognosis of patients with multiple myeloma treated with autologous transplantation. Leuk Lymphoma 1997;27:315-9. |
| 7. | Rajkumar SV, Dimopoulos MA, Palumbo A, Blade J, Merlini G, Mateos MV, et al. International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol 2014;15:538-48. |
Correspondence Address:
S Sowmya
Department of Pathology, Mahatma Gandhi Medical College and Research Institute, Sri Balaji Vidyapeeth Deemed to be University, Pillaiyarkuppam - 607 402, Puducherry
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/IJPM.IJPM_258_19
[Figre 1] |
