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Peer-reviewedCC BYHematology, Transfusion and Cell Therapy

CLINICAL CHARACTERIZATION OF AN EINSTEIN HOSPITAL BIOBANK DERIVED COHORT FOR INTEGRATED MULTI-OMICS ANALYSIS IN PATIENTS WITH MULTIPLE MYELOMA

3 more authors
  1. 1Center for Research in Immuno-Oncology (CRIO), Einstein Hospital Israelita (Einstein), São Paulo, SP, Brasil
  2. 2Einstein Hospital Israelita (Einstein), São Paulo, SP, Brasil

Abstract

Multiple myeloma (MM) is an incurable hematological neoplasm with heterogeneous clinical and biological features, whose prognosis is influenced by cytogenetic alterations, staging and response to therapy. Institutional biobanks allow integration of clinical annotation with stored biological samples, enabling investigation of tumor heterogeneity, the microenvironment and the immune profile. All patients registered in the Institutional Biobank between 2017 and 2026 under ICD-10 code C90 were retrieved (n=140) and sequentially screened against eligibility criteria defined for the planned multi-omics analysis. Inclusion criteria were confirmed MM, age ≥18 years, any disease stage, indication for treatment and at least one stored diagnostic sample (bone marrow aspirate or FFPE block). Serial collections at subsequent timepoints (peripheral blood, bone marrow aspirate, plasma, or FFPE blocks) provide the timepoints for longitudinal analysis and correlation with treatment outcomes. Exclusion criteria were previous antimyeloma treatment or stem cell transplantation before diagnosis, pre-existing autoimmune disease, and storage of serum, DNA or cerebrospinal fluid sample only. Demographic, clinical, laboratory, and cytogenetic data at diagnosis were retrieved from electronic medical records, including subtype, ISS stage, FISH, treatment, and response. Cytogenetic risk was defined according International Myeloma Society/International Myeloma Working Group (IMS-IMWG) consensus, and treatment response by the IMWG criteria. Continuous variables are reported as median and range. Fourteen patients were eligible (7 women, 7 men), with median age at diagnosis of 71.5 years (range 58.3-89.6); 57.1% self-declared white. The predominant subtype was IgG kappa (n=7), followed by IgA kappa and IgG lambda (n=2 each), IgA lambda and kappa light-chain disease (n=1 each); subtype was not reported in 1 case. ISS stage was determinable in 7 patients: stage I and II in 2 each, and stage III in 3. The FISH test was available in 10 patients and showed high-risk disease in 3 cases: del(17p) in 1 case, t(14;16) with 1q gain and del(1p32) in 1 case, and t(4;14) with 1q21 amplification in 1 case; 2 further patients had isolated 1q gain. In 8 patients the first-line therapy was daratumumab-based, 4 patients underwent autologous transplantation and 1 received CAR-T therapy. Response data were available for 8 patients, assessed at heterogeneous timepoints: post-induction (n=4), post-transplant (n=1), post CAR-T (n=1), and unspecified (n=2); stringent or complete response was observed in 4 patients, very good partial response and partial response, 2 patients each. Three deaths occurred, with distinct trajectories: high-risk cytogenetics, advanced age, and late refractoriness. The cohort spans a broad range of subtypes, cytogenetic risk, and treatments, and reflects the usual age distribution of MM, providing the biological diversity required for multi-omics studies. Limitations include the small sample size and missing clinical data. Blood and bone marrow samples, collected from diagnosis through follow-up, enable the longitudinal study of the tumor microenvironment and immunological profile. Integrating these data with clinical information can improve risk stratification, elucidate resistance mechanisms and support the identification of new biomarkers and therapeutic targets or immunotherapy response. This study is supported by GSK, FAPESP and Einstein Hospital Israelita.

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BibTeX
@article{carvalho2026clinical,
  title = {{CLINICAL CHARACTERIZATION OF AN EINSTEIN HOSPITAL BIOBANK DERIVED COHORT FOR INTEGRATED MULTI-OMICS ANALYSIS IN PATIENTS WITH MULTIPLE MYELOMA}},
  author = {Vitória Müller DE CARVALHO and Jackson Vieira LEITÃO and Amanda Braga DE FIGUEIREDO and Luiz Gustavo Ferreira CORTES and Iara Monique MESSIAS and Joselany Silva Carvalho BARONI and Francisca Kaline Ferreira PEREIRA and Lucila Nassif KERBAUY and Mariana Nassif KERBAUY and Daniele Cristina Ovigli Silva LOPES and Tatiana Ferreira DE ALMEIDA and Gabriela Amaral VIEIRA and Gabriela POLSTER and Livia Maria Silva MOURA and Kenneth John GOLLOB},
  journal = {Hematology, Transfusion and Cell Therapy},
  year = {2026},
  month = oct,
  doi = {10.1016/j.htct.2026.107849},
  url = {https://doi.org/10.1016/j.htct.2026.107849},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - CLINICAL CHARACTERIZATION OF AN EINSTEIN HOSPITAL BIOBANK DERIVED COHORT FOR INTEGRATED MULTI-OMICS ANALYSIS IN PATIENTS WITH MULTIPLE MYELOMA
AU  - Vitória Müller DE CARVALHO
AU  - Jackson Vieira LEITÃO
AU  - Amanda Braga DE FIGUEIREDO
AU  - Luiz Gustavo Ferreira CORTES
AU  - Iara Monique MESSIAS
AU  - Joselany Silva Carvalho BARONI
AU  - Francisca Kaline Ferreira PEREIRA
AU  - Lucila Nassif KERBAUY
AU  - Mariana Nassif KERBAUY
AU  - Daniele Cristina Ovigli Silva LOPES
AU  - Tatiana Ferreira DE ALMEIDA
AU  - Gabriela Amaral VIEIRA
AU  - Gabriela POLSTER
AU  - Livia Maria Silva MOURA
AU  - Kenneth John GOLLOB
PY  - 2026
DA  - 2026/10/23
JO  - Hematology, Transfusion and Cell Therapy
DO  - 10.1016/j.htct.2026.107849
UR  - https://doi.org/10.1016/j.htct.2026.107849
AB  - Multiple myeloma (MM) is an incurable hematological neoplasm with heterogeneous clinical and biological features, whose prognosis is influenced by cytogenetic alterations, staging and response to therapy. Institutional biobanks allow integration of clinical annotation with stored biological samples, enabling investigation of tumor heterogeneity, the microenvironment and the immune profile. All patients registered in the Institutional Biobank between 2017 and 2026 under ICD-10 code C90 were retrieved (n=140) and sequentially screened against eligibility criteria defined for the planned multi-omics analysis. Inclusion criteria were confirmed MM, age ≥18 years, any disease stage, indication for treatment and at least one stored diagnostic sample (bone marrow aspirate or FFPE block). Serial collections at subsequent timepoints (peripheral blood, bone marrow aspirate, plasma, or FFPE blocks) provide the timepoints for longitudinal analysis and correlation with treatment outcomes. Exclusion criteria were previous antimyeloma treatment or stem cell transplantation before diagnosis, pre-existing autoimmune disease, and storage of serum, DNA or cerebrospinal fluid sample only. Demographic, clinical, laboratory, and cytogenetic data at diagnosis were retrieved from electronic medical records, including subtype, ISS stage, FISH, treatment, and response. Cytogenetic risk was defined according International Myeloma Society/International Myeloma Working Group (IMS-IMWG) consensus, and treatment response by the IMWG criteria. Continuous variables are reported as median and range. Fourteen patients were eligible (7 women, 7 men), with median age at diagnosis of 71.5 years (range 58.3-89.6); 57.1% self-declared white. The predominant subtype was IgG kappa (n=7), followed by IgA kappa and IgG lambda (n=2 each), IgA lambda and kappa light-chain disease (n=1 each); subtype was not reported in 1 case. ISS stage was determinable in 7 patients: stage I and II in 2 each, and stage III in 3. The FISH test was available in 10 patients and showed high-risk disease in 3 cases: del(17p) in 1 case, t(14;16) with 1q gain and del(1p32) in 1 case, and t(4;14) with 1q21 amplification in 1 case; 2 further patients had isolated 1q gain. In 8 patients the first-line therapy was daratumumab-based, 4 patients underwent autologous transplantation and 1 received CAR-T therapy. Response data were available for 8 patients, assessed at heterogeneous timepoints: post-induction (n=4), post-transplant (n=1), post CAR-T (n=1), and unspecified (n=2); stringent or complete response was observed in 4 patients, very good partial response and partial response, 2 patients each. Three deaths occurred, with distinct trajectories: high-risk cytogenetics, advanced age, and late refractoriness. The cohort spans a broad range of subtypes, cytogenetic risk, and treatments, and reflects the usual age distribution of MM, providing the biological diversity required for multi-omics studies. Limitations include the small sample size and missing clinical data. Blood and bone marrow samples, collected from diagnosis through follow-up, enable the longitudinal study of the tumor microenvironment and immunological profile. Integrating these data with clinical information can improve risk stratification, elucidate resistance mechanisms and support the identification of new biomarkers and therapeutic targets or immunotherapy response. This study is supported by GSK, FAPESP and Einstein Hospital Israelita.
SN  - 2531-1379
SN  - 2531-1387
ER  -