YO12 - A curious case of pancytopenia: Adult onset osteopetrosis presented as myelofibrosis

Date 18 December 2016
Event ESMO Asia 2016 Congress
Session Poster lunch
Topics Myeloproliferative Neoplasms
Presenter Chandan Das
Authors C.K. Das1, A. Gogia2, S. Mallick3
  • 1Medical Oncology, All India Institute of Medical Sciences, 110029 - New Delhi/IN
  • 2Medical Oncology, Dr. BRA Institute Rotary Cancer Hospital (AIIMS), 110029 - New Delhi/IN
  • 3Pathology, All India Institute of Medical Sciences, 110029 - New Delhi/IN


Case Summary


Osteopetrosis, is a dysplastic bone disorders due to dysfunctional osteoclast resulting in osteosclerosis of both axial and appendicular bones. We report a case of osteopetrosis presented as myelofibrosis.


A 44-year-old male patient presented with pain abdomen for the last 6 months. On evaluation he found to have pallor, no lymphadenopathy with massively enlarged spleen almost reaching umbilicus. Skeletal examination normal. The patient had intact neurological examination.

Laboratory examination suggestive of normochromic normocytic anemia with pancytopenia, elevated lactate dehydrogenase, normal alkaline phosphatase level normal. In view of cytopenia with leucoerythroblastic pictures we considered the differential diagnosis of primary myelofibrosis, myelophthisis, myelodysplasia, infection associated myelosuppression, osteopetrosis.

Tc99m Skeletal scintigraphy suggestive of Iso-Intense uptake at metaphysis and epiphyses of the long bones,Skeletal survey suggestive of increased bone density at the spine and ribs.The osteosclerosis of long bones resulting in obliterating the medullary canal. These observations were consistent in line with the characteristic features of osteopetrosis.

Evaluation of viral etiology negative as well as heavy metal analysis by tandem mass spectrometry was normal. Bone marrow evaluation suggestive of hypo cellular bone marrow with extensive fibrosis with minimal cellular components.There are no increase in blast counts with normal megakaryocyte. Overall picture suggestive of osteopetrosis.

He was managed with high doses of corticosteroid with mega dose of 1,25 Vitamin D3. At the end of 6 month follow up the patient is partially improved in cytopenia, feeling better, actively returning to his professional duties.


Osteopetrosis is a spectrum of hereditary diseases with dysfunctional bone resorption, resulted from altered balance between osteoblasts and osteoclasts. autosomal dominant adult has the age of onset is usually 18-20 year. Clinical features ranges from asymptomatic to fulminant pancytopenia. extramedullary hematopoiesis, hepatosplenomegaly, chronic rhinitis The prognosis is good with survival up to 30-40 year.