Enigmatic Inv(9): A Case Report on Rare Findings in Hematological Malignancies
نویسندگان
چکیده
INTRODUCTION Inversion of chromosome 9 had been widely discussed among geneticists and evolutionary biologists because of its significant impact on various hereditary disorders and in the evolution of man. The role of such inversions in human disease evolution is an area hitherto unclear. CASE PRESENTATION We present the case of a chronic myeloid leukemia (CML) patient who showed intermittent relapse on treatment, with a rare appearance of clones with dual inversion (9) breakpoints [inv(9)(p22q34); inv(9)(p11q21)]. We also present the first report of inv(9)(p11,q13) as the sole abnormality in a patient with chronic myeloproliferative disorder(CMPD). Both the patients registered in 2012 and were from Kerala, India. CONCLUSIONS Both the cases discussed in our study have inv(9) as the sole abnormality and are found to confer a relatively poor prognosis.
منابع مشابه
Aplastic anemia evolving to myelodysplastic syndrome and later to a lymphoproliferative malignancy in a treated case of carcinoma breast: A case report emphasizing the importance of PET-CT in cutaneous T cell lymphoma
Although aplastic anemia (AA) and myelodysplastic syndrome (MDS) are separate entities with different management, distinction between the two can be difficult on morphological basis due to hypocellularity of bone marrow. MDS is one of the serious complications of AA. Karyotyping is definitive in the diagnosis of MDS. Better and robust investigations like 18F-Fluoro-deoxy-Glucose Posi...
متن کاملA Rare Case of Myeloid Sarcoma Presenting as Nasal Cavity Mass
Myeloid Sarcoma (MS) is a tumor mass consisting of myeloblast with or without maturation occurring at an anatomical site other than the bone marrow. Incidence of MS ranges from 1-9% and is most commonly misdiagnosed as Non Hodgkins Lymphoma or poorly differentiated carcinoma. MS can occur in various sites but nasal cavity involvement is rare. Here we report acaseof MS presenting as nasal polyp ...
متن کاملMetastasis of Lung Adenocarcinoma to the Gingiva: A Rare Case Report
Metastatic tumors account for 1% of all oral malignancies. Metastasis to jaw bones is common, particularly in the mandible, rare in the oral soft tissues, and account for only 0.1% of oral malignancies. The majority of metastatic cases (70%) reported in the literature have primary tumors located in the lung, breast, kidney, and colon. Metastasis is a biological complex process that involves det...
متن کاملConstitutional pericentric inversion 9 and hematological disorders: a Korean tertiary institution's experience over eight years.
Constitutional pericentric inversion of chromosome 9 [inv(9)] occurs in 0.8 to 2% of the normal population and has long been considered a normal variant. It is controversial whether inv(9) is a predisposing factor for acute leukemia (AL). The effect of inv(9) on bone marrow (BM) recovery after stem cell transplantation or chemotherapy is undetermined. Between March 2001 and December 2008, the c...
متن کاملPractice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report
We present 2 cases of likely rare event. In case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. The same inv(6) being inherited in progeny but presented with low AMH (anti Mullerian hormone) and high level of FSH (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. ...
متن کامل