Primary multifocal extramedullary multiple myeloma with a rare cytogentic abnormality

Czech version

Authors: V. Látal ¹; T. Pika ¹; M. Mlynárčiková ¹; J. Balcárková ¹; D. Hradil ²; T. Tichý ³; E. Buriánková ⁴; J. Minařík ¹; T. Papajík ¹
Authors‘ workplace: Hemato-onkologická klinika LF UP a FN Olomouc ¹; Urologická klinika LF UP a FN Olomouc ²; Ústav klinické a molekulární patologie, LF UP a FN Olomouc ³; Klinika nukleární medicíny LF UP a FN Olomouc ⁴
Published in: Transfuze Hematol. dnes,30, 2024, No. 1, p. 44-48.
Category: Case Reports
doi: https://doi.org/10.48095/cctahd2024prolekare.cz5

Overview

The following case report describes a 66-year-old woman who presented with abdominal pain and renal pelvis dilatation. Based on imaging methods, a primary urinary system tumor was suspected. However, targeted biopsy surprisingly revealed the presence of extramedullary multiple myeloma. The patient was then found to harbor a rare chromosomal aberration t (6; 22).

Keywords:

Multiple myeloma – Fish – extramedullary myeloma – cytogenomics

Sources

1. Rajkumar SV, Dimopoulos MA, Palumbo A, et al. International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol. 2014; 15 (12): e538–e548. doi: 10.1016/S1470-2045 (14) 70442-5.

2. Rosiñol L, Beksac M, Zamagni E, et al. Expert review on soft-tissue plasmacytomas in multiple myeloma: definition, disease assessment and treatment considerations. Br J Haematol. 2021; 194 (3): 496–507. doi: 10.1111/bjh.17338.

3. Stork M, Sevcikova S, Jelinek T, et al. Unexpected heterogeneity of newly diagnosed multiple myeloma patients with plasmacytomas. Biomedicines. 2022; 10 (10): 2535. doi: 10.3390/biomedicines10102535.

4. Sevcikova S, Minarik J, Stork M, Jelinek T, Pour L, Hajek R. Extramedullary disease in multiple myeloma – controversies and future directions. Blood Rev. 2019; 36: 32–39. doi: 10.1016/j.blre.2019.04.002.

5. Pasmantier MW, Azar HA. Extraskeletal spread in multiple plasma cell myeloma. A review of 57 autopsied cases. Cancer. 1969; 23 (1): 167–174. doi: 10.1002/1097-0142 (196901) 23: 1<167:: aid-cncr2820230122>3.0.co; 2-0.

6. Bhutani M, Foureau DM, Atrash S, Voorhees PM, Usmani SZ. Extramedullary multiple myeloma. Leukemia. 2020; 34 (1): 1–20. doi: 10.1038/ s41375-019-0660-0.

7. Dimopoulos MA, Moreau P, Terpos E, et al. Multiple myeloma: EHA-ESMO clinical practice guidelines for diagnosis, treatment and follow-up†. Ann Oncol. 2021; 32 (3): 309–322. doi: 10.1016/j.annonc.2020.11.014.

8. NCCN guidelines version 5.2022 multiple myeloma. National Comprehensive Cancer Network – home (nccn.org). [online] [cit. 2023-07-27].

9. Jelinek T, Sevcikova T, Zihala D, et al. Limited efficacy of daratumumab in multiple myeloma with extramedullary disease. Leukemia. 2022; 36 (1): 288–291. doi: 10.1038/s41375-021-01343-w.

10. Moreau P, Garfall AL, van de Donk NWCJ, et al. Teclistamab in relapsed or refractory multiple myeloma. N Engl J Med. 2022; 387 (6): 495–505. doi: 10.1056/NEJMoa2203478.

11. Lesokhin AM, Tomasson MH, Arnulf B, et al. Elranatamab in relapsed or refractory multiple myeloma: phase 2 MagnetisMM-3 trial results. Nat Med. 2023; 29 (9): 2259–2267. doi: 10.1038/s41591-023-02528-9.

12. Munshi NC, Anderson LD Jr, Shah N, et al. Idecabtagene vicleucel in relapsed and refractory multiple myeloma. N Engl J Med. 2021; 384 (8): 705–716. doi: 10.1056/NEJMoa2024850.

13. Campo E, Jaffe ES, Cook JR, et al. The international consensus classification of mature lymphoid neoplasms: a report from the clinical advisory committee. Blood. 2022; 140 (11): 1229–1253. doi: 10.1182/blood.2022015851.

14. D‘Agostino M, Cairns DA, Lahuerta JJ, et al. Second revision of the international staging system (R2-ISS) for overall survival in multiple myeloma: a European Myeloma Network (EMN) report within the HARMONY Project. J Clin Oncol. 2022; 40 (29): 3406–3418. doi: 10.1200/JCO.21.02614.

15. Sonneveld P, Avet-Loiseau H, Lonial S, et al. Treatment of multiple myeloma with high-risk cytogenetics: a consensus of the International Myeloma Working Group. Blood. 2016; 127 (24): 2955–2962. doi: 10.1182/blood-2016-01-631200.

16. Staudt V, Bothur E, Klein M, et al. Interferon-regulatory factor 4 is essential for the developmental program of T helper 9 cells. Immunity. 2010; 33 (2): 192–202. doi: 10.1016/ j.immuni.2010.07.014.

17. Iida S, Rao PH, Butler M, et al. Deregulation of MUM1/IRF4 by chromosomal translocation in multiple myeloma. Nat Genet. 1997; 17 (2): 226–230. doi: 10.1038/ng1097-226.

18. Yoshida S, Nakazawa N, Iida S, et al. Detection of MUM1/IRF4-IgH fusion in multiple myeloma. Leukemia. 1999; 13 (11): 1812–1816. doi: 10.1038/sj.leu.2401563.

19. Salaverria I, Philipp C, Oschlies I, et al. Molecular mechanisms in malignant lymphomas network project of the Deutsche Krebshilfe; German High-Grade Lymphoma Study Group; Berlin-Frankfurt-Münster-NHL Trial Group. Translocations activating IRF4 identify a subtype of germinal center-derived B-cell lymphoma affecting predominantly children and young adults. Blood. 2011; 118 (1): 139–147. doi: 10.1182/blood-2011-01-330795.

20. Shaffer AL, Emre NC, Lamy L, et al. IRF4 addiction in multiple myeloma. Nature. 2008; 454 (7201): 226–231. doi: 10.1038/nature 07064.

PODÍL AUTORŮ NA RUKOPISU

VL – hlavní autor, příprava rukopisu, léčba nemocné

TP – léčba nemocné, kritická revize rukopisu

JB, MM, EB – diagnostika nemocné, kritická revize rukopisu

DH – diagnostika nemocné, operatér, kritická revize rukopisu

TT – diagnostika nemocné, komentář k biopsii, kritická revize rukopisu

JM, TP – kritická revize rukopisu

PODĚKOVÁNÍ

Podpořeno grantem MZ ČR – RVO (FNOl, 00098892) a IGA_LF_2023_005.

ČESTNÉ PROHLÁŠENÍ

Autoři práce prohlašují, že v souvislosti s tématem, vznikem a publikací tohoto článku nejsou ve střetu zájmu a vznik ani publikace článku nebyly podpořeny žádnou farmaceutickou firmou.

ETICKÉ PROHLÁŠENÍ

Nemocná poskytla informovaný souhlas s prezentací nálezů. Publikace článku byla schválena Etickou komisí Fakultní nemocnice Olomouc.

Do redakce doručeno dne: 7. 9. 2023.
Přijato po recenzi dne: 17. 10. 2023.

MUDr. Vojtěch Látal
Hemato-onkologická klinika
Fakultní nemocnice Olomouc
Zdravotníků 248/7
779 00 Olomouc
e-mail: vojtech.latal@fnol.cz