Autoimmune myelofibrosis is a rare, distinct clinicopathological entity that can occur in isolation (primary) or in association with systemic autoimmune disorders (secondary), such as systemic lupus erythematosus and Sjogren\'s syndrome. This disease is characterized by isolated or combined chronic cytopenias associated with autoimmune phenomena and bone-marrow fibrosis. Due to the rarity of this disease, patients are frequently misdiagnosed as having primary myelofibrosis, the most common form of bone-marrow fibrosis. Distinguishing between both disease entities is essential given the drastic therapeutic and prognostic differences between both disorders. We report a case of primary autoimmune myelofibrosis presenting with severe isolated anemia refractory to multiple lines of therapy. This patient was initially misdiagnosed as primary myelofibrosis. The absence of the characteristic features of primary myelofibrosis and the lack of a clonal abnormality on cytogenetic and molecular studies, particularly JAK2, CALR, and MPL mutation analyses, confirmed the absence of an aberrant neoplastic process. Furthermore, the presence of monoclonal T-cell receptor gamma gene rearrangements delineated the presence of an autoimmune disorder supporting our diagnosis of primary autoimmune myelofibrosis.

Ghosal hematodiaphyseal dysplasia is a rare autosomal recessive disorder characterized by metadiaphyseal dysplasia of long bones and defective hematopoiesis due to fibrosis or sclerosis of bone marrow. Approximately 15 cases of this entity have been reported in the literature so far. The diagnosis of this rare syndrome and its differentiation from other sclerosing bone disorders is important as correct diagnosis helps in treatment with corticosteroids, leading to considerable improvement in anemia and bony changes, negating the need for blood transfusions. We review the literature for this uncommon disorder and also present a similar case in a 21-year-old female who remained undiagnosed until this age because of unfamiliarity of clinicians with the condition.

\"Refractory anemia with ring sideroblasts and thrombocytosis\" (RARS-T) is a rare disease, a provisional entity, with a controversial status in the 2008 revised WHO classification. Even at present time, RARS-T is a matter of debate whether it is a distinct clinicopathological entity or more likely a constellation of clinical and pathological features of two well-defined myeloid neoplasms, myelodysplastic syndrome and myeloproliferative neoplasm. Perhaps none of the clonal disorders illustrates better the challenges presented by the current classification of myeloid neoplasms, than this clinical entity with overlapping features of both refractory anemia with ring sideroblasts and essential thrombocythemia. The purpose of this study is to present the evolution of such a case, with difficulties in establishing not only the correct diagnosis, but also the appropriate therapeutic approach. For this reported case, we present documented details regarding persistent thrombocytosis, slightly increased number of leukocytes and analysis of Janus kinase 2 (JAK2) genes that revealed a V617F mutation, confirming the presence of an underlying myeloproliferative neoplasm, followed later in the evolution by occurrence of myelodysplastic features as ring sideroblasts. This case might interest pathologists, but especially clinicians, for at least two reasons: the rarity of this disease and the lack of data on prognosis of these patients, probably because of relatively recent established diagnosis criteria and existence of few studies with small number of patients. The third interesting aspect for practitioners would be the absence of consensus on optimal clinical treatment for this disorder, because there are few cases that meet the rigorous diagnostic criteria.

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Myelodysplastic syndromes (MDS) are a set of oligoclonal disorders of hematopoietic stem cells characterized by ineffective hematopoiesis that manifest clinically as anemia, neutropenia, and/or thrombocytopenia of variable severity. The result often is transfusion-dependent anemia, an increased risk of infection or hemorrhage, and a potential to progress to acute myelogenous leukemia (AML). Although progression to acute leukemia can lead to death in patients with MDS, many deaths are consequences of cytopenias and marrow failure in the absence of transformation. Approximately 2/3 of patients succumb to the disease within 3-4 years after presentation, and individuals with high-risk MDS generally survive about 1 year. Given that the disease is more prevalent in the elderly who often have comorbid conditions, the current treatment of MDS consists mainly of supportive care. Curative treatments are restricted to younger, healthy individuals with histocompatible (HLA)-matched donors for allogenic transplant or those able to undergo intensive chemotherapeutic regimens. However, understanding of the pathophysiology of MDS and identification of potential cellular and molecular targets in recent years has led to novel therapeutic approaches. Encouraging results using these heterogeneous therapeutic approaches alone or in combination in Phase I and II trials, have, in turn, called into question previous classification systems and have confirmed the need for an all-encompassing molecular, diagnostic and prognostic staging system.

Allogeneic hematopoietic stem cell transplantation (SCT) is a potentially curative treatment for patients with myelodysplastic syndrome (MDS). Relapses after transplantation however, are not uncommon and are usually due to re-emergence of a recipient derived, neoplastic, stem cell clone. We report a unique case of MDS recurring 5 months after non-myeloablative, sibling, allogeneic SCT. Interestingly, chimerism analysis at relapse showed hematopoiesis to be entirely of donor origin confirming donor cell MDS. Donor lymphocyte infusion (DLI) produced a hematological response lasting several months. Our review of the literature shows donor-derived MDS to be very rare, with only four such cases described previously. In this report, we describe the details of our case and discuss putative mechanisms underlying the genesis of donor cell MDS and the observed response to DLI.

We conducted a retrospective study to define the significance of Philadelphia chromosome (Ph) in myelodysplastic syndrome and acute leukemia in the adults at this institution and the literature was reviewed. One hundred forty-eight cases of t(9;22)(q34;q11) were identified for the period September 1993 through August 2001. The presentation of 124 cases (84%) was that of typical CML in chronic phase. Nineteen cases (13%) presented as de novo ALL, two cases (1%) presented as de novo AML and three cases (2%) presented as myelodysplastic syndrome (MDS). The estimated incidences of t(9;22)(q34;q11) in ALL and AML are 21 and 0.6%, respectively. Ph+ AMLs are increasingly being reported with either M-BCR or m-BCR gene rearrangements, similar to those found with Ph+ ALL lending support to the notion that Ph+ AMLs are distinct entities and not merely blastic phases of undiagnosed CML. This is further supported by the existence of Ph+ MDS cases.

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Relapsing polychondritis (RP) is a rare multisystem disorder. We describe two case reports of patients with RP, one of whom developed myelodysplasia subtype refractory anaemia (RA) and the other, refractory anaemia with ringed sideroblasts (RARS). We also review the literature of association between RP and haematological disorders.

OBJECTIVE: To describe the pathologic features of two cases of myelodysplastic syndrome associated with trisomy 14 and to summarize the relevant literature.
RESULTS: In both cases, trisomy 14 was identified using conventional cytogenetic and fluorescence in situ hybridization methods. The patients were elderly men, 70 and 77 years old, who presented with anemia and thrombocytopenia. According to the French-American-British classification, case 1 was classified as refractory anemia with ringed sideroblasts, and case 2 was classified as chronic myelomonocytic leukemia. In both cases, the aspirate smears revealed obvious abnormalities in erythroid and megakaryocytic maturation, with more subtle abnormalities in myeloid maturation. The biopsy sections were hypercellular, and there was marked myeloid hyperplasia in case 2. Both patients received only supportive therapy after the diagnosis was established. Clinical follow-up was available for both patients. The patient in case 1 died 67 months after disease onset of an unrelated illness, and the patient in case 2 was alive at last follow-up, 12 months after diagnosis.
METHODS: Thirty-five cases of trisomy 14 have been previously reported in the literature, predominantly in cytogenetics journals, and the description of the pathologic findings for the majority of these cases is limited or not provided. According to published data, the majority of these cases are myelodysplastic syndromes or acute myeloid leukemias associated with myelodysplasia.
CONCLUSIONS: The detection of trisomy 14 in the bone marrow strongly correlates with the presence of a myelodysplastic syndrome. The two cases of myelodysplastic syndrome associated with trisomy 14 we describe here did not exhibit characteristic morphologic findings that might suggest the presence of the cytogenetic abnormality.