scholarly journals Clinical features and prognosis of paediatric rhabdomyosarcoma with bone marrow metastasis: a single Centre experiences in China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Cheng Huang ◽  
Binglin Jian ◽  
Yan Su ◽  
Na Xu ◽  
Tong Yu ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Fusion Gene ◽  
Age At Onset ◽  
Initial Presentation ◽  
Therapeutic Effects ◽  
Haematological Malignancies ◽  
Bone Marrow Metastasis ◽  
Intracranial Metastasis ◽  
Multiple Metastases

Abstract Background The aim of this study was to summarize the clinical characteristics, therapeutic effects and prognosis of patients with rhabdomyosarcoma (RMS) and bone marrow metastasis, improve the understanding of this disease. Method This was a single-institution retrospective study involving the children with RMS, who presented with bone marrow metastasis at initial presentation to our hospital between 1st, Jan, 2006 and 31st, Dec,2019. Follow-up concluded on 31st, Dec, 2020 and the clinical data were collected and analysed. Result Between 1st Jan 2006 and 31st Dec 2019, 13 eligible patients presented to our hospital, including 10 males and 3 females, these eligible patients accounted for 4.5% of all RMS patients. The median age at onset was 5.6 years (range 1.7-14 years). The patients not only had unfavourable primary sites, but also had multiple metastases. The bone marrow aspirate samples of the patients comprised 8-95% blast-like cells. Nine of 13 patients were misdiagnosed with haematological malignancies or other solid tumours. With respect to histology, four of 13 children were classified as embryonal RMS and nine as alveolar RMS. Eleven patients underwent PAX-FOXO1 fusion testing; eight had the POX- FOXO1 fusion gene. Immunohistochemically(IHC) analysis revealed that the tumour cells were positive for Desmin, Vimentin, Myo-D1 and Myogenin. More importantly, the patients had extremely poor prognoses, the median EFS was 12.0 months (range 3-28.3 months) and the median OS was 27.0 months (range6-46.2 months). Conclusion This study demonstrates that children with RMS and bone marrow metastasis usually exhibit atypical primary sites and multiple metastases, with presentation mimicking haematological malignancies or other solid tumors at initial presentation. Pathology and IHC analysis combined with POX-FOXO1 fusion gene detections can effectively confirm the diagnosis. These patients are more likely to relapse or progress during early treatment and are prone to intracranial metastasis. While multidisciplinary therapy combined with Temozolomide may prevent it, further prospective research is required to evaluate the therapeutic effects.

EBV Related Lymphoproliferative Disorders Post Allogeneic Bone Marrow Transplantation for Haematological Malignancies

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 5480-5480
Author(s):  
A. Paisiou ◽  
C. M. Vadikolia ◽  
K. Stefanaki ◽  
E. Goussetis ◽  
I. Peristeri ◽  
...  
Keyword(s):  
Risk Factors ◽  
Bone Marrow ◽  
Allogeneic Bone Marrow Transplantation ◽  
Unrelated Donor ◽  
Allogeneic Bone ◽  
Haematological Malignancies ◽  
Hla Antigen ◽  
Post Transplant ◽  
Concurrent Infections

Abstract Background: Post transplant lymphoproliferative disorder (PTLD) is a heterogeneous complication of HSCT. It comprises a spectrum of pathogenetic mechanisms and clinical manifestations. It is mostly associated with EBV infection, either as a consequence of reactivation in the post transplant period or less frequently from primary infection. WHO classification defines four major histopathologic subtypes: 1. early plasmacytic hyperplasia and infectious mononucleosis (IM)-like 2. polymorphic lesions which may be polyclonal or focally monoclonal (P-PTLD) 3. monomorphic lesions that fulfill criteria for aggressive B- or T/NL-cell neoplasm (M-PTLD) 4. classic Hodgkin-type Lymphomas (CHL-PTLD). Indistinguishable categories, such as Hodgkin-like P-or M-PTLD might represent laborious diagnostic dilemmas. In literature, PTLD occurs in less than 1% of non T-cell-depleted grafts from matched siblings compared with as high as 25% in unrelated donor (VUD) recipients. There are several risk factors such as the type of conditioning and the use of ATG, the degree of immunosuppression and complications such as concurrent infections and GvHD. Objectives: To present our experience regarding the frequency, presentation and outcome of EBV related PTLD in a paediatric population of allo-HSCT recipients with haematological malignancies, to assess the risk factors and inquire into the heterogeneity in clinical presentation and outcome. Patients-Methods: From January 2004 until December 2014, 177 allo-HSCTs for myeloid and lymphoid malignancies were performed in patients aged 3 months to 19 years. PTLD was recorded in 15 (8 male) with median age of 13.24 yrs (range 5.0-17.9yrs). 11 patients had VUD, 4 patients had an haploidentical related donor and the grafts depleted of T-cells. 12 patients had peripheral blood and 3 had bone marrow as the source of HSCs. 4 were given a fully matched graft, 6 had 1 HLA antigen or allele mismatched donors, 1 patient had a 2 HLA antigen mismatched donor and 4 had 5/10 HLA matched haploidentical donors. All except for 2 patients were EBV IgG positive and the two seronegative patients had an EBV IgG positive donor. The conditioning regimens used were Busulfan or Treosulfan based in 11 patients with the addition of a combination of Cyclophosphamide, Fludarabine, Melphalan, VP16 and ATG. The latter was administered to all patients. GvHD prophylaxis consisted of Cyclosporin A and Methotrexate. Five patients (1 male) are alive and well with a median follow up of 43.1 months (range 8.3-69.2). Results: Neutrophil and platelet engraftment occurred at a median of 20 (range 14-24) and 21 days (range 14-48) respectively. Acute GvHD (stage II-IV) was recorded in 9 patients. Serial quantitative EBV-DNA/ml was employed routinely and the median day of confirmation of a rising level above 1.0x103/ml was day +58 post transplant. Median EBV copies at diagnosis were 2.3x104/ml(range 1.3x103/ml-2.15x105/ml). EBV positivity was immediately recorded post DLI in 3 patients and reactivation occurred post subsequent DLI. Immune reconstitution had not been achieved in any patient at the time of diagnosis. Median WBC count was 4.1x109/lt (1.04X109/lt - 8.78x109/lt) and all patients had absolute lymphopenia. 9 patients had documented other viral and/or bacterial infections. 2 patients developed M-PTLD, consistent unequivocally with DLBCL, 7 patients had P-PTLD and 6 patients had IM-like PTLD with plasmacytic hyperplasia only. All had anti-CD20, two patients had additional chemotherapy. Although responsive to EBV treatment, 3 died of primary disease recurrence while PTLD failed to regress in 7 patients who died of a multitude of complications. With a median follow up of 43,1 months (range 8.3-69.2), 5 patients (1 male) are alive and well. Conclusions: Nearly all HSCT recipients are EBV infected or will be infected eventually, yet only a fraction develop EBV driven PTLD. In our population the incidence was found to be 8.47%. PTLD exhibits a spectrum of features ranging from non specific and reactive to life threatening, indistinguishable from lymphoma. Administration of ATG, the type and extend of HLA mismatch, multiple sites of disease, immune suppression and concurrent infections heighten the risk of systemic manifestation. Rising EBV loads are strongly associated with impending PTLD, which can occur even with an overall modest viral load, thus requiring prompt recognition and early intervention. Disclosures No relevant conflicts of interest to declare.

Proptosis as Initial Presentation of Acute Lymphoblastic Leukemia in a Child with no associated symptoms: A Case Report

2020 ◽  
Author(s):  
Kourosh Goudarzipour ◽  
Ahmad Mohammadi ◽  
Reza Taherian ◽  
Mehran Arab Ahmadi ◽  
Behdad Behnam ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Myeloid Leukemia ◽  
Acute Lymphocytic Leukemia ◽  
Lymphoblastic Leukemia ◽  
Rapid Diagnosis ◽  
Lymphocytic Leukemia ◽  
Initial Presentation ◽  
Associated Symptoms ◽  
Blast Cells

Acute lymphocytic leukemia (ALL) is one of the frequent malignancies in pediatrics and involves bone marrow and extramedullary sites. Proptosis as extramedullary involvement of leukemia usually present in acute and chronic myeloid leukemia. It is extremely rare for ALL to present initially as proptosis.Here, a-21-month-old boy was presented with proptosis without any associated symptoms except lymphadenopathy. He was referred with the impression of malignancy from an ophthalmologist. After bone marrow biopsy which showed 33% blast cells, all positive for CD10, CD19, and CD79, the diagnosis of pre-B cell ALL was finally made. His symptoms were improved completely 16 days after starting standard protocol for ALL.Afterone-year follow-up, he was free of any symptoms.According to this initial presentation of ALL and no typical associated symptoms, it is important to make rapid diagnosis and start the treatment in the childhood.

Limited Reliability of Ig/TCR Based MRD Monitoring in BCR/ABL-Positive Childhood ALL: Comparison to Quantitative Fusion Transcript Detection.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 2340-2340
Author(s):  
Katerina Krejcikova ◽  
Katerina Muzikova ◽  
Eva Fronkova ◽  
Marketa Kalinova ◽  
Leona Reznickova ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Peripheral Blood ◽  
Fusion Gene ◽  
False Negative ◽  
Fusion Transcript ◽  
Childhood All ◽  
Expression Levels ◽  
Diagnostic Samples ◽  
Transcript Detection

Abstract Leukemias with the t(9;22) translocation resulting in BCR/ABL fusion protein expression comprise 3–5% of childhood ALL. Despite modern therapeutic regimens, their prognosis is inferior. Minimal residual disease (MRD) based on leukemia-specific immunoglobulin (Ig) and T-cell receptor (TCR) gene rearrangements has become a tool influencing clinical decisions in many therapeutic trials for childhood ALL. The presence of BCR/ABL fusion gene offers a possibility of the fusion transcript detection - a faster and cheaper alternative to Ig/TCR-based MRD monitoring. Up to now, no direct comparison based on a sufficient number of samples has been done. We analyzed 350 follow-up samples from 16 children (aged 4–17 years) with BCR/ABL-positive ALL by Ig/TCR-based real-time quantitative PCR (RQ-PCR) and by reverse-transcriptase (RT) RQ-PCR for BCR/ABL transcripts. Beta-2 microglobulin housekeeping gene was used for cDNA quality normalization. WBC, age, immunophenotype and blast proportion in the bone marrow (BM) and peripheral blood (PB) showed no relation to the initial BCR/ABL level. All children expressed m-BCR/ABL transcript at the time of diagnosis; 3 of 16 children expressed both m-BCR/ABL and M-BCR/ABL transcripts representing the p190 and p210 variant of BCR/ABL protein, respectively. The expression levels of m-BCR/ABL in diagnostic samples differed up to 3 logs, being the lowest in patients expressing both variants of the fusion gene. In 38 samples from those patients, M-BCR/ABL expression was generally higher than m-BCR/ABL expression, being negative by m-BCR/ABL and positive by M-BCR/ABL in 13 samples. For further analysis we used the higher value of m- and M-BCR/ABL as the BCR/ABL MRD level. For the comparison with Ig/TCR-based method, MRD levels in follow-up samples were related to the expression levels in diagnostic samples, which were set to 1. In total, 133 (38%) and 127 (36%) samples were negative and positive by both methods, respectively. The quantitative levels differed by more than 1 log in 46 (36%) double-positive samples, being underestimated by Ig/TCR method in 25 cases and by m-BCR/ABL quantification in 21 cases. With the same sensitivity of both methods we found significantly more false-negative samples by Ig/TCR approach (70 samples) compared to BCR/ABL quantification (20 samples). Altogether, we tested 219 bone marrow (BM), 130 peripheral blood (PB) and 1 cerebrospinal fluid samples. The PB samples showed significantly worse correlation between the two methods compared to BM (p=0.02). Interestingly, some patients had higher MRD levels in PB compared to BM as shown by corresponding BM and PB samples. Our data suggest that BCR/ABL-positive childhood ALL is a biologically heterogeneous group. We show that all diagnostic samples should be screened for the simultaneous m- and M- BCR/ABL expression to avoid false-negativity when using m-BCR/ABL quantification only. In our hands, the quantification of BCR/ABL transcripts appears to be a more reliable method than the generally accepted Ig/TCR-based MRD monitoring as the number of false-negative samples by BCR/ABL quantification is significantly lower. This contention is further supported by our pilot data on transplanted patients where BCR/ABL positivity preceding transplantation seems to be a better predictor of subsequent relapse than Ig/TCR approach. Support: MSM0021620813, MZ00064203 and 62/2004 GAUK CR. KK and KM contributed equally to this work.

scholarly journals A Rare Tumor with a Very Rare Initial Presentation: Thymic Carcinoma as Bone Marrow Metastasis

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Sonam Sharma ◽  
Leelavathi Dawson
Keyword(s):  
Bone Marrow ◽  
Thymic Carcinoma ◽  
Clinicopathological Characteristics ◽  
Initial Presentation ◽  
Unknown Etiology ◽  
Histological Classification ◽  
Rare Tumor ◽  
Bone Marrow Metastasis ◽  
Epithelial Tumor ◽  
Thymic Epithelial Tumor

Tumors of thymus gland are rare and account for 0.2% to 1.5% of all the neoplasms. They constitute a heterogeneous group that has an unknown etiology and a complex as well as varied biology. This has led to difficulty in their histological classification and in predicting their prognostic and survival markers. Among them, thymic carcinoma is the most aggressive thymic epithelial tumor exhibiting cytological malignant features and a diversity of clinicopathological characteristics that can cause diagnostic dilemmas, misdiagnosis, and therapeutic challenge. We herein describe a case of a 60-year-old man who while undergoing evaluation for the cause of pancytopenia was discovered having bone marrow metastasis from an asymptomatic thymic carcinoma. Bone marrow metastasis is an extremely rare initial presentation of thymic carcinoma with only few cases reported in the literature.

scholarly journals S1907 A Rare Case of Bone Marrow Metastasis as the Initial Presentation of Colorectal Cancer

2021 ◽  
Vol 116 (1) ◽  
pp. S837-S837
Author(s):  
Isaac S. Cho ◽  
Adrian Lugo ◽  
Jaydip B. Patel ◽  
Ahad Waraich ◽  
Swetha Chenna ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Bone Marrow ◽  
Rare Case ◽  
Initial Presentation ◽  
Bone Marrow Metastasis

scholarly journals Diffuse Bone Marrow Metastasis as the Initial Presentation of an Occult Breast Cancer

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Frank S. Fan ◽  
Chung-Fan Yang ◽  
Yi-Fen Wang
Keyword(s):  
Breast Cancer ◽  
Bone Marrow ◽  
Interleukin 1 ◽  
Growth Factor Receptor ◽  
Metastatic Potential ◽  
Initial Presentation ◽  
Unknown Primary ◽  
Bone Marrow Metastasis ◽  
Mucin 1 ◽  
Occult Breast Cancer

Introduction. Breast cancer is one of the malignancies which tend to involve the bone marrow, but initial presentation with diffuse bone marrow metastasis from an occult breast cancer is very rare. Prognosis is generally very poor for marrow metastasis from solid tumors except that breast cancer is a treatable disease even in such a dismal condition. Case. A 64-year-old woman’s headache was found to result from diffuse adenocarcinoma metastasis in the bone marrow from an unknown primary site. Intensive immunohistochemistry study of bone marrow biopsy specimen confirmed the disease nature to be an estrogen receptor-positive/human epidermal growth factor receptor 2-negative breast cancer. Mammography and magnetic resonance imaging of breasts revealed a suspicious primary lesion in the right breast. Treatment with tamoxifen alone achieved a sustained response. Discussion. Mucin 1 (MUC1), also known as cancer antigen 15-3 (CA 15-3), facilitates motility and metastatic potential of breast cancer cells. Interleukin-1β (IL-1β) drives breast cancer cell growth and colonization in bone marrow adipose tissue niche. Receptor activator of nuclear factor kappa-B (RANK) and its ligand (RANKL) activate osteoclasts to make a favorable bone marrow microenvironment for tumor cells. Agents against MUC1, IL-1β, and RANKL might be of therapeutic effect for patients like ours.

scholarly journals A case of occult colon cancer with sepsis as the primary manifestation guided by bone marrow puncture

2021 ◽  
Author(s):  
hua jun wang ◽  
chenjie ZHOU ◽  
jianhua Wang
Keyword(s):  
Bone Marrow ◽  
Colon Cancer ◽  
Bone Marrow Failure ◽  
Mainland China ◽  
Bone Marrow Metastasis ◽  
Case Presentation ◽  
Ct Examination ◽  
Pet Ct ◽  
Multiple Metastases ◽  
Inflammation Of The Lungs

Abstract Background: Bone marrow metastasis is common in liver cancer and lung cancer, but there are few reports on bone marrow metastasis of colon cancer. So far, there are no research reports from mainland China; especially reports of bone marrow metastasis combined with septic shock as the main manifestation are even rarer. Case presentation: A 71-year-old elderly woman with sepsis as the first symptom, mainly manifested as high fever, low blood pressure, high inflammation indicators, etc. CT examination revealed mild inflammation of the lungs and no obvious abnormalities in the abdomen. Blood culture culture suggested Escherichia coli and Aeromonas hydrophila/caviae. After anti-infective treatment, the patient's sepsis symptoms improved significantly, but after repeated platelet transfusion, he still could not correct hypothrombosis. Finally, a large number of malignant cells were found through a bone marrow puncture smear, and further PET-CT examination confirmed that the ascending colon malignant tumor was accompanied by multiple metastases such as the liver and bones. The patient was eventually unable to tolerate surgery due to bone marrow failure and liver failure and died 3 weeks after admission.Conclusions: We hope that this case report can raise people’s awareness of the insidiousness of colon cancer and the possibility of metastasis to the bone marrow, especially for patients with progressive thrombocytopenia that is difficult to correct. Thrombocytopenia needs to be treated differently from sepsis.

scholarly journals Obstructive Jaundice as Initial Presentation of Multiple Myeloma: Case Presentation and Literature Review

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Yasir Khan ◽  
Iyad Mansour ◽  
Eric Ong ◽  
Manish Shrestha
Keyword(s):  
Multiple Myeloma ◽  
Bone Marrow ◽  
Plasma Cell ◽  
Bacterial Infections ◽  
Disease Patient ◽  
Initial Presentation ◽  
Malignant Plasma Cell ◽  
History Of ◽  
Plasma Cell Disorder

Multiple myeloma is a malignant plasma-cell disorder that primarily involves the bone marrow, but extramedullary involvement is becoming increasingly common (Bladé et al., 2012) both at initial presentation and follow-up. Most common initial presentations for multiple myeloma include generalized fatigue, renal insufficiency, bone pain, and recurrent bacterial infections. We present a case of a healthy 55-year-old man that presented to the emergency department with a three-week history of anorexia and jaundice without any past medical history. Patient’s initial labs were significant for hyperbilirubinemia and elevated liver function enzymes (AST, ALT, ALP, and GGT). Additional laboratory workup was significant for mild hypercalcemia and increased protein gap. MRI and ERCP suggested primary sclerosing cholangitis but were not diagnostic. Liver biopsy illustrated plasma-cell infiltration and bone marrow biopsy diagnosed multiple myeloma with extramedullary disease. Patient was started on dexamethasone, bortezomib, and cyclophosphamide, but, despite this aggressive regimen, the patient continued to decline. We take this opportunity to present this atypical presentation of a common hematological malignancy and review the associated literature.

scholarly journals Unexpected Concomitance of BCR-ABL and PML-Rarα Leukemia - Three-Year Follow-up

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 5038-5038
Author(s):  
Caique Pereira de Moura Martins ◽  
João Vítor Ternes Rech ◽  
Lee I-Ching ◽  
Giovanna Steffenello Durigon ◽  
Joanita Angela Del Moral ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Acute Myeloid Leukemia ◽  
Acute Promyelocytic Leukemia ◽  
Myeloid Leukemia ◽  
Fusion Gene ◽  
Promyelocytic Leukemia ◽  
Ongoing Treatment ◽  
Clinical Conditions ◽  
Acute Myeloid

Introduction Acute promyelocytic leukemia (APL) with PML-RARα is a variant type of acute myeloid leukemia (AML), halting granulocytes at the promyelocytic stage1, primarily associated with the t(15;17)(q22;q11-12) translocation2. The fusion gene BCR-ABL1, attributed to the t(9;22) translocation, is widely associated with chronic myeloid leukemia (CML)3, but rarely found in APL. In this report we explore the occurrence of both BCR/ABL and PML-RARα and in a patient with ongoing treatment for confirmed CML. Case report A 25-year-old woman with ongoing treatment for chronic myeloid leukaemia (CML) in use of Imatinib. Presented to the ER with fever, metrorrhagia, splenomegaly, cutaneous mycosis by Fusarium sp. Investigation upon admission showed pancytopenia, complete blood count showed white blood cells 1.290/mm3, hemoglobin 7,5 g/dL and platelets 13.000/mm3. Bone marrow trephine biopsy showed diffuse infiltration by blasts with large nuclei - round to oval, some irregular, some invaginated- and with hypergranulated cytoplasm(Fig. 01). The bone marrow aspiration showed hypocelular marrow with 67,9% pathological blasts (MPO++, CD13+, CD33++, CD117+, , CD34 -/+, CD15-, CD11b-). Chromosome analysis displayed 46, XX, t(9;22) (q34;q11) and t(15;17)(q22;q11-12). PCR showed amplification for both PML/RARα and BCR/ABL. The patient was treated under Intensive Care with DA regimen and nilotimib associated retinoic acid (ATRA), as well as cefepime, metronidazole, B Amphotericin and vancomycin for cellulitis and fusariosis. The patient was discharged after fifty-three days in good clinical condition, and followed the treatment with consolidation phase therapy and presented remission of both CML and APL. After two years in good clinical conditions, follow-up exams evidentiated new onset of APL (PCR with only t(15;17)(q22;q11-12) and BCR-ABL negative). Due the new condition, the patient is undergoing therapy with arsenic trioxide (ATO) (10mg/d) with good improvement of clinical conditions and a bone marrow transplant is scheduled at this point. Discussion Late progression of CML emcompasses uncontrolled proliferation and loss of control mechanisms and of differentiation, in a terminal status termed acutephase or blast crisis, typically resembling acute myeloid leukemia (AML)4. The presence of t(15;17)(q22;q11-12) translocation, closely associated with the diagnosis of PML (over 95% of cases), and t(9;22)(q34;q11) creates a fusion gene between BCR on chromosome 22 and ABL1 on chromosome 9 (BCR-ABL1), that is present in the wide majority of patients affected by CML1. The rarity of PML in CML patients, associated with similarity between acute phase CML (AML-like) and PML, may cause confusion among clinicians and a difficult treatment course, since PML and CML follow different treatment protocols. Unlike other forms of myeloid leukemia, APL substantially improves in response with the combination of ATO and ATRA, with or without chemotherapy, achieving complete remission rates of ≥95% with 2-year overall survival >90%1, while treatment of CML have tyrosine kinase inhibitors with assessment of molecular response as the primary therapeutic intervention3,5. Considering that coexistence of CML and PML is a rare disorder, we present a case of a patient with ongoing treatment of CML (BCR-ABL positive) that developed acute promyelocytic leukemia (PML-RARα positive). Cytogenetic findings and a description of the clinical course are explored in the light of recent literature. Figure Disclosures No relevant conflicts of interest to declare.

Sign in / Sign up

Export Citation Format

Share Document