Gene rearrangement studies in the diagnosis of primary systemic and nodular primary localized cutaneous amyloidosis
| Autor: | Hans Feichtinger, Kurt Grünewald, Helmut Hintner, Günther Konwalinka, K. Weyrer, Norbert Sepp, Karl Lhotta, Stephen M. Breathnach |
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| Rok vydání: | 1991 |
| Předmět: |
Male
Pathology medicine.medical_specialty Amyloid Dermatology Biology Plasma cell Biochemistry Skin Diseases Diagnosis Differential hemic and lymphatic diseases medicine Humans In patient Molecular Biology Aged Aged 80 and over Gene Rearrangement Amyloidosis Primary localized cutaneous amyloidosis Gene rearrangement Cell Biology DNA Middle Aged medicine.disease Skin Nodule Blotting Southern medicine.anatomical_structure Female Bone marrow |
| Zdroj: | The Journal of investigative dermatology. 97(4) |
| ISSN: | 0022-202X |
| Popis: | Difficulties may arise in the diagnosis of patients with clinical features suggestive of plasma cell dyscrasia-related amyloidosis (amyloidosis L), but without evidence of a paraprotein. We have employed gene rearrangement methodology to demonstrate the clonality of bone marrow cells not only in a patient with myeloma-associated systemic amyloidosis, but also in a patient with "primary" systemic amyloidosis without overt myeloma or a detectable paraprotein. Furthermore, we have shown the clonality of the amyloid-producing plasma cells within a skin nodule of a patient with primary localized cutaneous amyloidosis; by contrast, clonal rearrangement was not detected in bone marrow cells from this patient. This finding provides definitive proof that organlimited nodular primary localized cutaneous amyloid deposits arise in relation to cutaneous plasmacytomas. Gene rearrangement studies may enable early diagnosis and initiation of treatment in patients with systemic amyloidosis L, as well as their differentiation from patients with organ-limited nodular cutaneous amyloidosis, who do not require aggressive therapy. |
| Databáze: | OpenAIRE |
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