Myelodysplastic Syndrome, Myeloproliferative Neoplasms and Histiocytosis MCQs

CML can have 3 types of transcripts. P190–Poor prognosis Seen in ALL P210–Seen in CML P230–Seen in CNL good prognosis Reference: Robbins & Cotran Pathologic Basis of Diseases 10 th edition, chapter 13, pg 633

FISH or PCR to document BCR-ABL translocation.

In this case, the clinical features are suggestive of polycythemia. Since, he is from hilly area, it may be due to secondary causes. To rule out primary (low epo) vs secondary cause (high epo), erythropoietin must be the next logical step. Reference: Robbins & Cotran Pathologic Basis of Diseases 10 th edition, chapter 13, pg 624

The above history shows organomegaly with increased WBC counts. Peripheral smear with mature, immature myeloid cells and t(9:22) translocation is case of chronic myeloid leukemia. BCR-ABL fusion gene formation is an early, perhaps initiating, event that drives leukemogenesis. The crucial role of BCR-ABL in cancer has been confirmed by the dramatic clinical response of patients with chronic myeloid leukemia to BCR-ABL kinase inhibitors. Reference: Robbins and Cotran Pathologic Basis of Diseases, 10 th ed, Pg: 207.

Langerhans cell proliferations take on different clinical forms, but all are believed to be variations of the same basic disorder. The proliferating Langerhans cells express MHC class II antigens, CD1a, and langerin. Langerin is a transmembrane protein found in Birbeck granules, cytoplasmic penta laminar rodlike tubular structures that in electron micrographs have a characteristic periodicity and sometimes a dilated terminal end ('tennis racket' appearance). Under the light microscope, the proliferating Langerhans cells do not resemble their normal dendritic counterparts. Instead, they have abundant, often vacuolated cytoplasm and vesicular nuclei, an appearance more akin to that of tissue macrophages (called histiocytes by morphologists) hence the term Langerhans cell histiocytosis. Reference : Robbins, 10 th edition, page number - 484

The given clinical scenario is suggestive of polycythemia vera. It is a myeloproliferative neoplasm, presents with history of hepatic vein thrombosis (Budd Chiari syndrome ) and can progress to Myelofibrosis. It can also undergo clonal evolution to AML. Hepatic failure is not seen in this condition. Polycythemia vera is strongly associated with activating point mutations in the tyrosine kinase JAK2. In this condition, clonal erythrocytosis is taking place autonomously i.e, independent of erythropoietin. Clinical features of polycythemia vera : Headache Hypertension Dizziness

Birbeck granules Also known as Langerhans bodies or X granules Seen on Electron microscopy Rod-shaped organelles with a central striation and terminal vesicular dilation, giving them a 'tennis racket' appearance. Reference: Robbins 9th/pg 531

Ans. is 'd' i.e., All of above Causes of delay in tooth eruption : 1) Impacted teeth 4) Cong hypothyroidsm 2) Down syndrome 5) Gaucher Cleidocranial dysplasia 6) Osteo petrosis