GRACIA APARECIDA MARTINEZ
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/31 - Laboratório de Genética e Hematologia Molecular, Hospital das Clínicas, Faculdade de Medicina
LIM/31 - Laboratório de Genética e Hematologia Molecular, Hospital das Clínicas, Faculdade de Medicina
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conferenceObject Surveillance Functional Imaging Has Limited Role in Solitary Plasmacytomas: International Multi-Centre Study of Clinical Outcomes(2017) SHARPLEY, Faye A.; NEFFA, Pedro; PANITSAS, Fotis; KOTHARI, Jaimal; CUTTER, David; SZOR, Roberta Shcolnik; SUBESINGHE, Manil; MARTINEZ, Gracia; ROCHA, Vanderson; RAMASAMY, Karthik- Challenges in Diagnosis and Treatment of Systemic Amyloidosis: 10 Years of Experience in a Public Brazilian University Center(2020) SZOR, Roberta Shcolnik; FERNANDES, Fabio; SEGURO, Fernanda S.; LINO, Angelina M.; JORGE, Lecticia B.; MENDONCA, Leonardo O.; FEITOSA, Valkercyo A.; CASTELLI, Jussara B.; REGO, Eduardo M.; JACOMASSI, Mayara; ALVES, Lucas B. O.; MARTINEZ, Gracia; ROCHA, Vanderson
conferenceObject Treating multiple myeloma in a resource-limited setting: real-world outcomes(2022) MATINEZ, Gracia; SEGURO, Fernanda; JACOMASSI, Mayara; VISNADI, Helena; ATANAZIO, Marcelo; SZOR, Roberta; NEFFA, Pedro; PEREIRA, Thales; SILVA, Wellington; DORLHIAC, Pedro; VELASQUES, Rodrigo; BASSOLI, Lucas; ROCHA, Vanderson- Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country(2022) SZOR, Roberta Shcolnik; FERNANDES, Fabio; LINO, Angelina Maria Martins; MENDONCA, Leonardo Oliveira; SEGURO, Fernanda Salles; FEITOSA, Valkercyo Araujo; CASTELLI, Jussara Bianchi; JORGE, Lecticia Barbosa; ALVES, Lucas Bassolli de Oliveira; NEVES, Precil Diego Miranda de Menezes; SOUZA, Evandro de Oliveira; CAVALCANTE, Livia Barreira; MALHEIROS, Denise; KALIL, Jorge; MARTINEZ, Gracia Aparecida; ROCHA, VandersonBackground: Systemic amyloidosis is caused by the deposition of misfolded protein aggregates in tissues, leading to progressive organ dysfunction and death. Epidemiological studies originate predominantly from high-income countries, with few data from Latin America. Due to the non-specific clinical manifestations, diagnosing amyloidosis is often challenging and patients experience a long journey and delay in diagnosis. This study aimed to assess clinical and laboratory characteristics, the diagnostic journey, and outcomes of patients with biopsy-proven systemic amyloidosis diagnosed between 2009 and 2020 at a university referral center in a middle-income Latin American country. Patients' medical records were retrospectively reviewed. Results: One hundred and forty-three patients were included. The median age at diagnosis was 60 years and 54% were male. Until the diagnosis, most of the patients (52%) were seen by at least 3 specialists, the main ones being: general practitioners (57%), nephrologists (45%), and cardiologists (38%). The most common manifestations were renal (54%) and cardiac (41%) disorders, and cachexia was seen in 36% of patients. In 72% of the cases, & GE; 2 biopsies were required until the final diagnosis. The median time from symptoms onset to diagnosis was 10.9 months, and most patients (75%) had & GE; 2 organs involved. The following subtypes were identified: AL (68%), ATTR (13%), AA (8%), AFib (4%), and inconclusive (7%). Median OS was 74.3 months in the non-AL subgroup and 18.5 months in AL. Among AL patients, those with advanced cardiac stage had the worst outcome [median OS 8.6 months versus 52.3 for stage III versus I-II, respectively (p < 0.001)]. AL subtype, cardiac involvement, and ECOG & GE; 2 were identified as independent risk factors for reduced survival. Conclusions: Systemic amyloidosis is still an underdiagnosed condition and the delay in its recognition leads to poor outcomes. Medical education, better diagnostic tools, improvement in access to therapies, and establishment of referral centers may improve patient outcomes in middle-income countries.
- Multiple myeloma and Chagas disease: qPCR as a marker forpreemptive antiparasitic therapy: a case reports series and review(2024) CARVALHO, Noemia Barbosa; FREITAS, Vera Lucia Teixeira de; SEGURO, Fernanda Salles; BEZERRA, Rita Cristina; FATOBENE, Giancarlo; NAKANISHI, erika Yoshie Shimoda; VISNADI, Helena; MARTINEZ, Gracia; BATISTA, Marjorie Vieira; ROCHA, Vanderson; DULLEY, Frederico Luis; COSTA, Silvia Figueiredo; SHIKANAI-YASUDA, Maria AparecidaMultiple myeloma (MM) associated with Chagas disease is rarely described. This disease and its therapy suppress T cell and macrophage functions and increase regulatory T cell function, allowing the increase of parasitemia and the risk of Chagas Disease Reactivation (CDR). We aimed to analyze the role of conventional (cPCR) and quantitative Polymerase Chain Reaction (qPCR) for prospective monitoring of T. cruzi parasitemia, searching for markers of preemptive antiparasitic therapy in MM patients with Chagas disease. Moreover, we investigated the incidence and management of hematological diseases and CDR both inside and outside the transplant setting in the MEDLINE database. We found 293 studies and included 31 of them. Around 1.9-2.0% of patients with Chagas disease were reported in patients undergoing Stem Cell Transplantation. One case of CDR was described in eight cases of MM and Chagas disease. We monitored nine MM and Chagas disease patients, seven under Autologous Stem Cell Transplantation (ASCT), during 44.56 +/- 32.10 months (mean +/- SD) using parasitological methods, cPCR, and qPCR. From these patients, three had parasitemia. In the first, up to 256 par Eq/mL were detected, starting from 28 months after ASCT. The second patient dropped out and died soon after the detection of 161.0 par Eq/mL. The third patient had a positive blood culture. Benznidazole induced fast negativity in two cases; followed by notably lower levels in one of them. Increased T. cruzi parasitemia was related to the severity of the underlying disease. We recommend parasitemia monitoring by qPCR for early introduction of preemptive antiparasitic therapy to avoid CDR. KEYWORDS Multiple myeloma; Chagas disease; T. cruzi parasitemia; Conventional PCR; Quantitative PCR
- Acquired von willebrand syndrome secondary to monoclonal gammopathy of undetermined significance: long-term remission after treatment with bortezomib(2023) SALDANHA, Artur; VEIGA, Maria Eduarda; OKAZAKI, Erica; ROTHSCHILD, Cynthia; MARTINEZ, Gracia; ROCHA, Vanderson; ORSI, Fernanda A.; VILLACA, PaulaMonoclonal gammopathy of undetermined significance (MGUS) is a plasma cell disorder that can precede the diagnosis of multiple myeloma. MGUS is characterized by the presence of a monoclonal paraprotein without evidence of multiple myeloma or other lymphoplasmacytic malignancies. Even though MGUS is an asymptomatic condition that does not require management strategies other than periodic follow-up to prevent complications, secondary nonmalignant diseases may arise, requiring control of the plasma cell clone. Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder that occurs in patients with no prior personal or family history of bleeding. It is associated with several other disorders, such as neoplasia, mainly hematological (including MGUS and other lymphoproliferative disorders), autoimmune, infectious and cardiac diseases. At diagnosis, patients usually present with cutaneous and mucosal bleeding, including gastrointestinal bleeding. Here, we report a case of a patient with MGUS who developed AVWS after one year of follow-up. The patient was refractory to glucocorticoids and cyclophosphamide and achieved remission only after monoclonal paraprotein was eradicated following treatment with bortezomib and dexamethasone. Our report sdemonstrates that, for refractory cases, eradication of the monoclonal paraprotein may be necessary to treat bleeding complications due to MGUS-associated AVWS.
- Amyloid Cardiomyopathy Establishing a Patient Referral Center in Brazil(2021) SZOR, Roberta Shcolnik; ALENCAR, Aristoteles; BUENO, Bruno Vaz Kerges; CAFEZEIRO, Caio Reboucas Fonseca; ALVES, Lucas Bassolli de Oliveira; HAJJAR, Ludhmila Abrahao; MARTINEZ, Gracia Aparecida; ROCHA, Vanderson; FERNANDES, Fabio
- Acquired hemophagocytic lymphohistiocytosis as initial manifestation of multiple myeloma A case report and literature review(2020) MENDES, Fernanda Rodrigues; SOBRAL, Karine Marques; CULLER, Hebert Fabricio; COUTO, Samuel Campanelli Freitas; PEREIRA, Juliana; ROCHA, Vanderson; MARTINEZ, Gracia Aparecida; LAGE, Luis Alberto de Padua CovasIntroduction: Hemophagocytic lymphohistiocytosis (HLH) is a condition characterized by a hyperinflammatory state and persistent macrophage activation, resulting in reactive phagocytosis of the hematopoietic elements. In children, it is usually a hereditary disorder, while in adults it is usually acquired secondary to viral infections, collagenoses, or tumors. Although accounting for 10% of hematologic malignancies, HLH is rarely associated with multiple myeloma (MM) and other plasmacytic dyscrasias. Patient concerns: A 64-year-old Brazilian man seeked medical care with a 3-month history of intermittent fever, weight loss, night sweats, and progressive anemic symptoms. Diagnosis: Total blood count showed severe bicytopenia (normocytic-normochromic anemia and thrombocytopenia), biochemical exams showed elevation of creatinine, as well as monoclonal peak in serum protein electrophoresis, high IgA dosage, and serum immunofixation with IgA kappa paraprotein. Bone marrow biopsy showed 30% of monoclonal and phenotypically anomalous plasmocytes, confirming the diagnosis of MM. Diagnosis of HLH was established by the presence of clinical and laboratory criteria: fever, splenomegaly, cytopenias, hypofibrinogenemia, hyperferritinemia, elevation of triglycerides, and several figures of erythrophagocytosis in bone marrow aspirate. Interventions: The patient experienced pulse therapy with methylprednisolone for hemophagocytic lymphohistiocytosis, followed by initial therapy for multiple myeloma with cyclophosphamide and dexamethasone. Outcomes: Once the diagnosis of MM and secondary hemophagocytic syndrome was established, the patient had a rapid clinical deterioration despite the established therapeutic measures, evolving with cardiovascular failure, acute liver failure, acute disseminated intravascular coagulation, worsening renal dysfunction requiring dialysis support, respiratory dysfunction, and lowering of consciousness, characterizing rapid multiple organ dysfunction, ultimately leading to the death of the patient. Innovation: Here, we aimed to describe the sixth reported case of HLH associated with MM, according to cases cataloged in the PubMed database, and the first case evaluated by 18-fluordeoxyglucose positron emission tomography (18-FDG-PETCT). Conclusion: Our case report seeks to provide support for a better clinical and laboratory characterization of this rare paraneoplastic entity associated with MM, and aims to call the attention of hematologists and intensivists to this condition that falls within the scope of the differential diagnosis of rapid onset multiple organ failure in patients with plasmacytic neoplasms.