scholarly journals Gain/Amplification of Chromosome Arm 1q21 in Multiple Myeloma

Cancers ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 256
Author(s):  
Ichiro Hanamura
Keyword(s):  
Multiple Myeloma ◽  
Hematological Malignancy ◽  
Treatment Approach ◽  
Current Knowledge ◽  
Chromosome 1 ◽  
Plasma Cell Neoplasm ◽  
Chromosome Arm ◽  
Cell Neoplasm ◽  
Prognostic Implications ◽  
Tandem Duplications

Multiple myeloma (MM), a plasma cell neoplasm, is an incurable hematological malignancy characterized by complex genetic and prognostic heterogeneity. Gain or amplification of chromosome arm 1q21 (1q21+) is the most frequent adverse chromosomal aberration in MM, occurring in 40% of patients at diagnosis. It occurs in a subclone of the tumor as a secondary genomic event and is more amplified as the tumor progresses and a risk factor for the progression from smoldering multiple myeloma to MM. It can be divided into either 1q21 gain (3 copies) or 1q21 amplification (≥4 copies), and it has been suggested that the prognosis is worse in cases of amplification than gain. Trisomy of chromosome 1, jumping whole-arm translocations of chromosome1q, and tandem duplications lead to 1q21+ suggesting that its occurrence is not consistent at the genomic level. Many studies have reported that genes associated with the malignant phenotype of MM are situated on the 1q21 amplicon, including CKS1B, PSMD4, MCL1, ANP32E, and others. In this paper, we review the current knowledge regarding the clinical features, prognostic implications, and the speculated pathology of 1q21+ in MM, which can provide clues for an effective treatment approach to MM patients with 1q21+.

An Interphase Chromosome Profiling Assay to Determine the Need for CD 138 Enrichment in the Genetic Workup of Multiple Myeloma

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 4211-4211
Author(s):  
Ramesh Babu ◽  
Prasad Koduru
Keyword(s):  
Multiple Myeloma ◽  
Plasma Cell ◽  
Plasma Cells ◽  
Unknown Origin ◽  
Normal Result ◽  
Interphase Chromosome ◽  
Marker Chromosomes ◽  
Plasma Cell Neoplasm ◽  
Cell Neoplasm ◽  
Clonal Abnormalities

Abstract Plasma cell neoplasm, a B-cell malignancy is very common in elderly population and is currently incurable despite multiple treatment strategies. Genetic characterization, especially karyotype plays an important role in the diagnosis, prognosis as well as in the follow-up during treatment. In general, plasma cells are non-dividing and don't cooperate in tissue culture and as a result, over 90% of all standard cytogenetic studies end up having a "normal" karyotype. FISH testing using several probes has proven very useful in detecting the clonal abnormalities. It has been suggested and some laboratories do use CD138 antibodies to enrich the plasma cells in an effort to increase the detection rate of clonal abnormalities. However this additional step adds cost to the overall testing and the efficacy of this enrichment and the clinical utility is somewhat controversial. Many institutions don't enrich the plasma cells and still can detect the clonal abnormalities using FISH probes. It would be of interest if the need for enrichment is clarified and if the results from un-enriched studies are comparable to those of enriched, then the cost savings will be obvious. FISH testing, while extremely useful in increasing the detection of clonal abnormalities on the "normal" cytogenetic samples, has limitations in the sense that it can only detect the common changes targeted in the panels. Approximately 25% of all abnormal cases do have complex karyotypes harboring changes both numerical as well as structural that are beyond the scope of detection utilizing the current FISH panel of probes. These additional clonal changes have prognostic significance and it is well established that the greater the complexity of the karyotype, the worse is the prognosis. Therefore, it is imperative, from a clinical management standpoint that the testing laboratories use technologies that will detect all chromosomal abnormalities given the dismal culture success rate of traditional cytogenetic methods in detecting the abnormal clones. We have recently developed and validated a novel technology termed "Interphase Chromosome Profiling" (ICP) (Cytogenet Genome Res 2014;142:226, Abstract #22) which detects all chromosome abnormalities including the characterization of marker chromosomes and material of unknown origin i.e., add, in karyotypes. We utilized this technology on 10 unenriched samples from patients clinically suspected of multiple myeloma/plasma cell neoplasm. Each case had the traditional karyotype and FISH studies, in addition to ICP. Seven of the ten had a normal result with cytogenetics and FISH. ICP also produced a normal result in these cases. Three cases had an abnormal result by Cytogenetics and FISH. One of them had only one cell with abnormalities in the cytogenetic study. All three had complex karyotypes harboring the classic numerical abnormalities characteristic of multiple myeloma such as trisomy for chromosomes 3, 5, 7, 9, 11 etc. as well as multiple structural abnormalities including marker chromosomes and extra material of unknown origin (add). FISH failed to identify many of these structural changes which is an inherent limitation of the current design of panel of probes in clinical use. ICP on the other hand, detected not only all the abnormalities identified by both cytogenetics and FISH, but clarified and/or characterized the marker chromosomes and "add"s in these complex karyotypes. Interestingly, ICP identified a NOVEL duplication of the long arm of chromosome X, dup(X)(q21.3qter) in two of the three abnormal cases. Review of the literature indicates that this duplication on X chromosome is found in 20% of cases and harbors Cancer/Testis Antigens (CTAs) belonging to the MAGE family (CTA-X-MAGE) (Clin Dev Immunol. 2012;2012:257695. doi: 10.1155/2012/257695. Epub 2012 Mar 11) and is a potential target for novel immunotherapies. Yet classical cytogenetic approaches including FISH on enriched or unenriched samples will fail to identify this very important and common abnormality for which there is a potential therapy. Our results strongly indicate that ICP is very sensitive technique and can identify all chromosome abnormalities in interphase nuclei regardless of enrichment procedures for samples from multiple myeloma patients. Disclosures No relevant conflicts of interest to declare.

scholarly journals Multiple Myeloma of the Thyroid Cartilage

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Peter Kalina ◽  
Jeffrey B. Rykken
Keyword(s):  
Multiple Myeloma ◽  
Maxillary Sinus ◽  
Plasma Cell ◽  
Thyroid Cartilage ◽  
Autologous Stem Cell Transplant ◽  
Neck Mass ◽  
Cell Transplant ◽  
Plasma Cell Neoplasm ◽  
Prognostic Implications ◽  
Left Maxillary Sinus

A 60-year-old male presented with hoarseness. His past medical history was remarkable for a plasmacytoma of the left maxillary sinus having been resected without systemic evidence of plasma cell myeloma (PCM), also known as multiple myeloma (MM), at the time. This maxillary sinus disease recurred and was treated with radiation. Workup for PCM was conducted. Treatment included melphalan and autologous stem cell transplant. Because of the therapeutic and prognostic implications, a Plasma cell neoplasm (PCN) in a neck mass must be carefully evaluated by clinical and pathological criteria in order to distinguish plasmacytoma from PCM. PCN involvement of the thyroid cartilage is very rare, with only 5 previously reported cases.

scholarly journals Immunological Prognostic Factors in Multiple Myeloma

2021 ◽  
Vol 22 (7) ◽  
pp. 3587
Author(s):  
Dominika Bębnowska ◽  
Rafał Hrynkiewicz ◽  
Ewelina Grywalska ◽  
Marcin Pasiarski ◽  
Barbara Sosnowska-Pasiarska ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Immune System ◽  
Prognostic Markers ◽  
Risk Groups ◽  
Treatment Method ◽  
Diagnostic Techniques ◽  
Plasma Cell Neoplasm ◽  
Cell Neoplasm ◽  
Selection Of

Multiple myeloma (MM) is a plasma cell neoplasm characterized by an abnormal proliferation of clonal, terminally differentiated B lymphocytes. Current approaches for the treatment of MM focus on developing new diagnostic techniques; however, the search for prognostic markers is also crucial. This enables the classification of patients into risk groups and, thus, the selection of the most optimal treatment method. Particular attention should be paid to the possible use of immune factors, as the immune system plays a key role in the formation and course of MM. In this review, we focus on characterizing the components of the immune system that are of prognostic value in MM patients, in order to facilitate the development of new diagnostic and therapeutic directions.

scholarly journals Sellar Plasmacytoma: An Unusual Presentation of Anaplastic Multiple Myeloma

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A608-A609
Author(s):  
Yasaman Motlaghzadeh ◽  
Deborah Sellmeyer
Keyword(s):  
Multiple Myeloma ◽  
Plasma Cell ◽  
Physical Exam ◽  
External Beam Radiation ◽  
Left Shoulder ◽  
Beam Radiation ◽  
Radiographic Appearance ◽  
Plasma Cell Neoplasm ◽  
Cranial Nerve Palsies ◽  
Cell Neoplasm

Abstract Background: Anaplastic multiple myeloma (AMM) is an extremely rare morphological subtype of multiple myeloma that has been reported only sporadically. Furthermore, pituitary involvement by multiple myeloma is rare and can be misdiagnosed as a nonfunctioning pituitary adenoma, due to its radiological and clinical similarities. Clinical Case: A 46-year-old man with no past medical history presented with a 3-month history of left shoulder pain. Initial physical exam revealed a large left neck mass, which prompted a left shoulder x-ray remarkable for left supraclavicular mass. Chest CT scan showed a bony mass (7 x 4 x 4 cm) in the left anterior second rib with extra osseous soft tissue involvement. CT also noted left supraclavicular/infraclavicular and left axillary adenopathy. Patient also reported lightheadedness and double vision for a few months and found to have diplopia with upward gaze on exam. Brain MRI revealed uniformly enhancing mass in right sphenoid sinus involving the sella measuring 2.3x2.6x3.2cm. With exception of low Hemoglobin (10.5, 13.5 - 17.7 g/dL) and mildly elevated prolactin (29.9, 2.0 - 20.0 ng/mL), laboratory testing was within normal limits including complete blood count, metabolic panel and pituitary hormone levels. Patient underwent fine needle aspiration of the supraclavicular node, which showed anaplastic plasma cell neoplasm. Further work up noted elevated M-spike, Kappa light chain 92.7 (0.3-2.0 mg/dl), kappa/lamda ratio 23 (0.3-1.6) and beta-2 microglobulin 4324 (600-2,200 ng/mL). Bone marrow biopsy confirmed 70% myeloma involvement with kappa monotypic plasma cell population expressing CD20, CD138, CD38, and CD117. Patient underwent endoscopic endonasal trans-sphenoidal biopsy of the mass. Frozen section pathology revealed a plasma cell neoplasm, and a subtotal resection was performed. Final surgical pathology confirmed anaplastic plasma cell neoplasm. He was started on systemic chemotherapy and external beam radiation. Conclusion: Sellar involvement by myeloma is very rare with less than 50 cases reported in the literature. While rare, these tumors should be considered in the differential diagnosis for lesions involving the sella as the therapeutic approach is different from other sellar masses. While the radiographic appearance can be similar, pituitary plasmacytomas typically present with headache and neurological signs such as cranial nerve palsies and visual changes, with preserved pituitary function. Close attention to physical exam and lab parameters can provide clues to this rare diagnosis.

A rare case of plasmacytoma of mandible revealing plasma cell myeloma

2021 ◽  
Vol 2 (5) ◽  
Author(s):  
Hari Ram ◽  
◽  
Sneha Gupta ◽  
Praveen Kumar Singh ◽  
Shivani Sharma ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Plasma Cell ◽  
Rare Case ◽  
Plasma Cells ◽  
Solitary Plasmacytoma ◽  
Bence Jones Protein ◽  
Jaw Bones ◽  
Plasma Cell Neoplasm ◽  
Cell Neoplasm ◽  
Single Bone

Multiple myeloma (MM) is a malignant proliferation of plasma cells with multiple foci. Plasmacytoma is a solitary plasma cell neoplasm involving a single bone. The most commonly involved bone is vertebra. Jaw bones are rarely involved as a first bone as they have lesser hematopoietic marrow. A solitary plasmacytoma may progress to multiple myeloma within few months to year. We present a case of a swelling of mandible that on further investigations confirmed the diagnosis of multiple myeloma. We have discussed the course of treatment given and its prognosis. Keywords: multiple myeloma; plasmacytoma of jaw; bence jones Protein; abnormal plasma cells; CD138.

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