Myelodysplastic syndrome characterized by deletion of 5q as the sole cytogenetic abnormality and no increase in blasts Alternate Names 5q minus syndrome Diagnostic Criteria Deletion of 5q is sole cytogenetic abnormality Additional molecular abnormalities may be present [surgpathcriteria.stanford.edu]

Scattered hypolobated forms are present (bone marrow biopsy specimen, hematoxylin-eosin, ×1000). Erythroid hypoplasia may be present. Erythroid and granulocytic dysplasia, if present, is generally mild. [emedicine.medscape.com]

The Autonomous University of Barcelona doctoral programme has awarded the extraordinary doctoral prize for the thesis Clinico-biological characterisation of myelodysplastic syndromes with 5q deletion presented in June 2013 by Dr. [fcarreras.org]

Cytogenetic analysis of his bone marrow biopsy at initial clinical presentation and in subsequent studies revealed the presence of two abnormal clones, 92,XXYY and 92,XXYY,del(5)(q13q33). [ncbi.nlm.nih.gov]

Their patient had the Ph chromosome (bcr-abl of b3a2) in his karyotype similar to the present patient [ 1 ]. [omicsonline.org]

• Congestive Heart Failure

  There were three deaths from congestive heart failure, one death from ischemic colitis, one death from acute myeloid leukemia, one death from procedure-associated intestinal perforation, one death from subarachnoid hemorrhage, and one sudden death. [nejm.org]

• Constitutional Symptom

  There may be constitutional symptoms such as anorexia, weight loss, sweats and fevers, which occur in more advanced disease. [patient.info]

• Dyspnea

  A 47-year-old woman visited hospital complaining of dyspnea. No abnormalities were noted during physical examination, but unexplainable pancytopenia was detected. [synapse.koreamed.org]

  We report a 70 years old female without previous exposure to myelotoxic drugs, presenting with three weeks with fatigue and dyspnea. She had anemia with normal white blood cell and platelet count. [scielo.cl]

  Background Chief complaint: Increase in moderate amounts of fatigue and dyspnea on exertion for 6 months. History of present illness: The patient is a woman aged 72 years who has developed macrocytic anemia over the past year. [oncnursingnews.com]

  […] year-old man with a past medical history of underlying congenital aortic valve defect and hypertension was incidentally diagnosed with an isolated anemia (hemoglobin of 7.8 g/dL) when he presented to his cardiologist with symptoms of fatigue and exertional dyspnea [bloodjournal.org]

  […] and occurred in a patient with a response to treatment who had a stable platelet count (more than 75,000 per cubic millimeter, with a baseline mean value of 99,000 per cubic millimeter) during a 2-week hiatus in study treatment because of unexplained dyspnea [nejm.org]

• Nausea

  […] bleeding (nose, mouth, vagina, or rectum), purple or red pinpoint spots under your skin; signs of a blood clot--chest pain, sudden cough, wheezing, rapid breathing, coughing up blood; pain, swelling, warmth, or redness in your arm or leg; liver problems--nausea [addyi.phhoaccrx.com]

  The most common nonhematologic toxicities reported include injection-site reactions with SC administration, diarrhea, nausea, and vomiting. 8 Patients should receive prophylaxis with a 5-hydroxytriptamine 3 –based antiemetic regimen. [uspharmacist.com]

  […] thrombocytopenia, (2) venous thromboembolism such as deep venous thrombosis in 3.4% of treated patients, (3) infectious complications such as pneumonia, fever and febrile neutropenia, (4) skin rashes, pruritis, and urticaria, (5) GIT upset including nausea [intechopen.com]

• Tachycardia

  Look for other clinical evidence of anaemia, such as cardiac failure or tachycardia. Examine the mouth for evidence of anaemia and infections such as candidiasis. [patient.info]

• Hepatomegaly

   Clinical features often include anaemia, hepatomegaly, splenomegaly, lymphadenopathy and rash. 62. Criteria for diagnosis of JMML 63. [slideshare.net]

• Petechiae

  Corresponding ICD-10 Codes D46.7 Other myelodysplastic syndromes Corresponding ICD-10-CM Codes (U.S. only) D46.C Myelodysplastic syndrome with isolated del(5q) chromosomal abnormality (effective October 01, 2015) Signs and Symptoms Easy bruising or bleeding Petechiae [seer.cancer.gov]

  Signs Examination should seek evidence of petechiae and ecchymoses (check under waistbands of clothing or other pressure points). Inspect conjunctivae to look for evidence of anaemia. [patient.info]

  On physical examination the patient did not have any petechiae or ecchymoses, lymphadenopathy, or hepatosplenomegaly. [sci.amegroups.com]

  • Petechiae on the lower extremities or on the buccal mucosa (if severe thrombocytopenia is present). • Splenomegaly may be present, especially in patients with chronic myelomonocytic leukemia (CMML). 27. [slideshare.net]

  Easy bruising, epistaxis, petechiae, ecchymoses, and gum bleeding are the main manifestations [ 12, 28 ]. Patients with neutropenia may develop fever and infections may be due to viruses, bacteria, fungi, and mycobacteria [ 12, 28, 29 ]. [intechopen.com]

• Cytopenia

  […] also means abnormal development of spinal cord "Ineffective hematopoiesis" means cytopenia (anemia most common) despite a cellular / hypercellular marrow with normal or increased precursors for one or more cell lines; cytopenias may be due to aberrant [pathologyoutlines.com]

  Refractory cytopenia with multilineage dysplasia (WHO)  Comprises about 30% of cases of MDS.  Mostly elderly patients.  PS-  Cytopenias (Hb 42. [slideshare.net]

  […] with multilineage dysplasia D46.B Refractory cytopenia with multilineage dysplasia and ring sideroblasts Inclusion term(s): RCMD RS D46.C Myelodysplastic syndrome with isolated del(5q) chromosomal abnormality Inclusion term(s): Myelodysplastic syndrome [icd10coded.com]

  Patients typically present with marked macrocytic anemia with or without other cytopenias and a normal or increased platelet count in the peripheral blood. [emedicine.medscape.com]

  This, in turn, leads to cytopenia of one or more cell lines ( thrombocytopenia, erythrocytopenia, leukocytopenia). Most cases of MDS have a primary, idiopathic etiology, while a minority of cases are secondary to an underlying cause. [amboss.com]

• Hemoglobin Increased

  The trial had a primary endpoint of transfusion independence for at least 26 weeks in association with serum hemoglobin increase >1 g/dL versus baseline. [onclive.com]

• Hypercellular Bone Marrow

  The bone marrow biopsy and clot sections generally show normocellular or mildly hypercellular bone marrow with numerous small megakaryocytes, sometimes forming clusters. [8] Although some early series included patients with blast counts greater than 5% [emedicine.medscape.com]

   The bone marrow biopsy usually is hypercellular for the age of the patient.  However, approx 15% of patients have a hypocellular marrow (cellularity 29. [slideshare.net]

  Overall, the clinical picture includes peripheral cytopenias in the setting of normocellular or hypercellular bone marrow and increased risk of transformation to AML. Hypocellular bone marrow is less common in MDS. [clincancerres.aacrjournals.org]

Lenalidomide was approved for the treatment of transfusion-dependent patients with low to intermediate risk myelodysplastic syndrome and chromosome 5q deletion. [ncbi.nlm.nih.gov]

Only in 1 patient, lack of response was the cause for treatment withdrawal; in 2 patients, treatment was ended due to response loss (treatment until progression). [bmccancer.biomedcentral.com]

Importantly, TP53 mutations were common (62%) in this cohort, and uniformly associated with treatment failure. [openarchive.ki.se]

Treatment with lenalidomide results in transfusion independence in the majority of patients, but some questions remain unresolved, among them the duration of treatment. [karger.com]

Patients with a response continued to receive treatment with lenalidomide until disease progression, treatment failure, or treatment-limiting adverse effects occurred. [nejm.org]

These tend to carry worse prognosis depending on the nature of aberration and do not fall in the category of 5q− MDS. [ijpmonline.org]

Treatment MDS patients with isolated del(5q) have a favorable prognosis and the majority of patients respond well to treatment with lenalidomide. Prognosis This subtype of MDS has a favorable prognosis. [atlasgeneticsoncology.org]

Back to top Prognosis People with a myelodysplastic syndrome may have questions about their prognosis and survival. Prognosis and survival depend on many factors. [cancer.ca]

The prognosis for patients with t-MDS is not as favorable as the prognosis for patients with MDS with isolated del(5q). [emedicine.medscape.com]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

Our data suggest that the unique complex abnormality of tetraploidy and 5q deletion described here for the first time in MDS is characterized by distinct disease etiology, the mechanism of which could involve epigenetic inactivation of gene expression [ncbi.nlm.nih.gov]

AB - A variety of interstitial Lung Diseases (ILD) have been described in patients with myelodysplastic syndromes (MDS) with possible etiologies including autoimmunity, drug related toxicity, and recurrent infections. [mayoclinic.pure.elsevier.com]

Clinical presentation, etiology, epidemiology, molecular biology, classification, and staging are all discussed. [books.google.com]

Etiology Primary MDS ( 90% of cases ) Tends to occur in elderly patients Unknown etiology Secondary MDS ( 10% of cases ): caused by exogenous bone marrow damage Treatment-related MDS: following cytostatic therapy ( alkylating agents, topoisomerase II [amboss.com]

Clinical presentation, etiology, epidemiology, molecular biology, classification, and staging are all discussed. [books.google.com]

[…] caused by bleeding) Shortness of breath Skin paler than usual Weakness or feeling tired Diagnostic Exams FISH (flourescence in situ hybridzation) Flow cytometry Immunocytochemistry Immunophenotyping Peripheral blood smear Progression and Transformation Epidemiology [seer.cancer.gov]

Epidemiology – A Disease of the Elderly Incidence of MDS is around 4-5 per 1,00,000 yearly. [japi.org]

Epidemiology MDS with isolated del(5q) is present in Clinics Patients suffering from MDS with isolated del(5q) present with a macrocytic anemia, normal or increased platelet count and absence of significant neutropenia in their peripheral blood. [atlasgeneticsoncology.org]

Secondary MDS have a worse prognosis than primary MDS. [ 2 ] Epidemiology The incidence of MDS is approximately 4/100,000 population/year. [patient.info]

Murine models have implicated heterozygous loss of APC, EGR1, DIAPH1, and NPM1 in the pathophysiology of del(5q) MDS. [ncbi.nlm.nih.gov]

Myelodysplastic syndromes with 5q deletion: pathophysiology and role of lenalidomide. Ann Hematol. 2014 May;93(5):723-33. doi: 10.1007/s00277-014-2022-3. Epub 2014 Mar 14. Review. Giagounidis A, Mufti GJ, Fenaux P, Germing U, List A, MacBeth KJ. [ghr.nlm.nih.gov]

"A critical review of the molecular pathophysiology of lenalidomide sensitivity in 5q – myelodysplastic syndromes". Leukemia & Lymphoma. 53 (5): 779–88. doi : 10.3109/10428194.2011.623255. PMID 21955212. [en.wikipedia.org]

Myelodysplastic Syndromes: Review of Pathophysiology and Current Novel Treatment Approaches. Current Cancer Drug Targets 2007, 7:541-558 [slideshare.net]

In addition a block was identified in the processing of preribosomal RNA in RPS14-deficient cells that is functionally equivalent to the defect in Diamond - Blackfan anemia (OMIM: 105650), thus linking the molecular pathophysiology of the 5q- syndrome [omicsonline.org]

Treatments for Myelodysplastic Syndromes Associated with Isolated 5q Deletion include: The use of immunosuppressive drugs to prevent progression to leukemia, such as: Antithymocyte globulin Cyclosporine Targeted molecular therapy drugs, such as: Lenalidomide [dovemed.com]

Vaccinations, such as the yearly influenza vaccine and pneumococcal vaccines are given to prevent infections. [ihtc.org]

Find out more Supportive care Supportive Care involves making every effort to improve your quality of life by relieving symptoms and preventing/treating disease or treatment complications. [leukaemia.org.au]

Its goal is to help alleviate or prevent symptoms from low blood counts. Supportive care includes the use of blood and platelet transfusions for people with dangerously low red blood cell and platelet counts. [mskcc.org]

Once the biopsy is done, pressure will be applied to the site to help prevent bleeding. [cancer.org]