Megakaryoblastic transformation of chronic myelomonocytic leukemia presenting with severe bone pain

A 77-year-old woman, who had suffered from osteoporosis with compression fractures of vertebrae, was admitted to our hospital because of increasing bone pain. She had anemia and monocytosis, and was diagnosed as chronic myelomonocytic leukemia (CMML). Although chemotherapy was initiated, she died from pneumonia. Autopsy revealed multiple tumors composed of megakaryoblastic cells in her bone marrow and extramedullary organs and, therefore, the pathological diagnosis was made as megakaryoblastic transformation of CMML. Severe bone pain was considered to be a symptom of megakaryoblastic transformation of CMML.     

Pleural involvement in the course of chronic myelomonocytic leukemia and the development of multiple colonic perforation due to leukemic infiltration in the acute leukemia phase

A 68-year-old man with chronic myelomonocytic leukemia (CMML) was initially treated with hydroxyurea with subsequent stable disease. In the time course, he developed bilateral pleuritis accompanied by leukocytosis and spiking fever. Cytologic analysis of the pleural effusion revealed abundant mature granulocytes and monocytes. He was treated with intravenous or oral etoposide with consequent resolution of the pleuritis, indicating the pleural involvement of CMML. Three months later, he developed hepatomegaly and became febrile. One month thereafter, the CMML transformed to acute myeloid leukemia, and the patient developed massive bloody stools associated with epigastric pain and leukocytosis. A gastrofiberscopic examination showed multiple bleeding gastric ulcers. The bleeding ulcers were treated with the clipping procedure; however, the bloody stools continued. Although intravenous etoposide was effective for the leukocytosis and hepatomegaly, the treatment did not improve the bloody stools. The patient finally died of panperitonitis. The autopsy showed multiple ulcers of the transverse colon, some of which were perforated. Microscopically, the ulcerated areas were densely infiltrated with leukemic cells predominantly consisting of immature monocytes and granulocytes. This patient may be the first reported case of CMML complicated by colonic perforation due to leukemic infiltration.     

Chronic myelomonocytic leukemia transformed from refractory anemia with ring sideroblasts with a rare abnormal chromosome, inv (12)

We report here a rare transformation from refractory anemia with ring sideroblasts (RARS) to chronic myelomonocytic leukemia (CMML). A rare karyotype, inv (12), was also seen at the phase of CMML. A 76-year-old female consulted a physician because of hoarseness in June, 1983. An anemia was found and blood transfusions were made. In August, 1983, she was referred and admitted to Tsukuba University Hospital for a further examination of anemia. A diagnosis of MDS (RARS) was made by hematological examinations, and pyridoxamine was administered from September, 1983. The monocyte counts in the peripheral blood increased above 1,000/microliters continuously from June, 1985, and an exacerbation of anemia was also seen. At the second admission to our hospital in August, 1988, the diagnostic criteria for CMML by the FAB co-operative group was fulfilled. At that time, chromosomal analysis revealed an abnormal karyotype; 46XY, inv (12) (p13.3 q15). Even at the phase of CMML, ringed sideroblasts were also seen in 2.2% of nucleated cell count in the bone marrow. To our knowledge, only 12 cases have been reported as transformation from another type of MDS to CMML. The present case is thought to be a rare case of transformation of MDS. On the other hand, 8 cases with inv (12) associated with malignant hematological disorders have been reported previously. Four of the above 8 cases were MDS. A relationship between development of MDS and inv (12) was suggested.     

Granulocytic sarcoma of the colon in chronic myelomonocytic leukemia

A 59-year-old man with a six-month history of chronic myelomonocytic leukemia (CMML) was admitted to the Kitasato University Hospital because of melena in September 2000. Colonofiberscopy and barium enema demonstrated an ulcerated tumorous lesion in the transverse colon. The histopathologic findings of the ulcer bed revealed diffuse infiltration of granulocytes at each stage of differentiation. The diagnosis of granulocytic sarcoma (GS) was made. Surgical resection was not indicated, because thrombocytopenia was hardly improved enough to allow surgery despite repetitive transfusion of platelet concentrates. CMML developed to refractory anemia with excess of blast in transformation in February 2001. Two courses of low dose cytarabine plus aclarubicin were ineffective on the GS in spite of a decrease in the peripheral blood blasts. Progression to acute myeloid leukemia eventually broke out, in July 2001. The patient died of leukemia complicated with pneumonia and intestinal obstruction. At present, nine cases of GS in the colon have been reported. However, these cases did not include CMML. This is the first report describing GS in the colon associated with CMML.     

Unusual skin and testicular lesions in a patient with CMML

Chronic myelomonocytic leukemia (CMML) is a clonal disorder of hematopoetic stem cells with myelodysplastic and myeloproliferative features. Skin infiltration by leukemic cells is rare in CMML. A case is presented with severe dermatological involvement and concomitant testicular infiltration. An unusual feature was the evidence that the skin was the primary site of an acute leukemic transformation.     

A case of chronic myelomonocytic leukemia complicated with spondyloarthritis

Chronic myelomonocytic leukemia (CMML), a clonal hematopoietic stem cell disorder with myelodysplastic and myeloproliferative overlap feature, is frequently associated with autoimmune diseases, such as vasculitis, polyarthritis, and neutrophilic dermatosis. We herein report the first case of CMML complicated with spondyloarthritis (SpA). A 64-year-old female patient, admitted to our hospital with buttock pain alternating left and right, was found to have sacroiliitis and spondylitis by contrast magnetic resonance imaging. Peripheral blood test and bone marrow biopsy revealed an increase of monocytes with trilineage dysplasia. We made a diagnosis of CMML. Although arthritic symptoms and imaging findings initially improved by azacitidine, CMML was thereafter transformed into acute myeloid leukemia. She is scheduled to hematopoietic stem cell transplantation. The concomitant onset of sacroiliitis with CMML suggested that her SpA feature was a paraneoplastic phenomenon of CMML. Thus, we must be aware that myelodysplastic syndrome including CMML can manifest as SpA.     

Bilateral tumoral infiltration of the achilles tendons revealing chronic myelomonocytic leukemia

Extrahematologic manifestations, such as symptoms of rheumatic disease, have been recorded in association with myelodysplastic syndromes, including chronic myelomonocytic leukemia (CMML). We report the case of a 51-year-old woman with tumoral infiltration of the Achilles tendons bilaterally, indicating CMML. This diagnosis was confirmed at postmortem examination.     

Recurrent renal cell carcinoma leading to a misdiagnosis of polycystic liver disease: A case report

BACKGROUND Polycystic liver disease(PCLD) with a large cystic volume deteriorates the quality of life of patients through substantial effects on the adjacent organs,recurrent cyst infections, cyst rupture, and hemorrhage. Surgical or radiological intervention is usually needed to alleviate these symptoms. We report a rare case of the cystic metastasis of renal cell carcinoma(RCC), which was misdiagnosed as PCLD, as a result of the clinical and radiological similarity between these disorders.CASE SUMMARY A 74-year-old female who had undergone nephrectomy for papillary-type RCC(PRCC) was suffering from abdominal pain and the recurrent intracystic hemorrhage of multiple cysts in the liver. Imaging studies and aspiration cytology of the cysts showed no evidence of malignancy. With a diagnosis of autosomal dominant polycystic liver disease, the patient received hepatectomy for the purpose of mass reduction and infectious cyst removal. Surgery was performed without complications, and the patient was discharged on postoperative day 14. Postoperatively, the pathology revealed a diagnosis of recurrent PRCC with cystic formation.CONCLUSION This case demonstrates the importance of excluding the cystic metastasis of a cancer when liver cysts are observed.     

Non-ruptured hydatid cyst can lead to death by spread of cyst content into bloodstream: an autopsy case

Hydatid disease is a parasitic infestation caused by a tapeworm of the genus Echinococcus, and it is common in Mediterranean regions. Cystic lesions cause symptoms via compressing adjacent organs or may be totally silent. Morbidity is usually secondary to free rupture of the echinococcal cyst with or without anaphylaxis, infection of the cyst or dysfunction of affected organs. The cyst of Echinococcus granulosus is commonly located in the liver and frequently causes no symptoms. Anaphylactic reactions as a result of cyst perforation generally occur during interventions such as needle aspiration or open surgery; however, the spillage of cyst fluid with intravascular spread resulting from trauma may also trigger anaphylaxis, and rare case reports of this kind are present in the literature.We report the case of a 17-year-old man who was admitted to the public hospital with a sudden onset of nausea, vomiting and fainting. After a short period of intervention in the emergency department he died. As the cause of his sudden death was unknown, a forensic autopsy was carried out by the Forensic Council of Turkey. The autopsy revealed a macroscopically non-ruptured hydatid cyst in the liver and laryngeal oedema. In histopathological examination, two scolices in the pulmonary artery and inflammatory infiltration mainly composed of mast cells in the larynx were detected. Sudden death in this case was attributed to anaphylactic shock caused by intravascular spread of the cyst contents.     

Bone marrow aplasia without blast crisis in a case of CML of 10-year survival

A case of chronic myelogenous leukemia (CML) of 10-year survival in described. A 44-year old male was admitted to our hospital because of general malaise, abdominal fullness and fever in February, 1977. On physical examination, giant splenomegaly and hepatomegaly were detected. Peripheral blood examination revealed leukocytosis without hiatus leukemia , normochromic macrocytic anemia and thrombocytosis. NAP rate and score were 16% and 22. Cytogenetic analysis of PB without stimulator revealed 46, XY, Ph1. Then he was diagnosed as having a typical type of Ph1-positive CML. He had been successfully treated over 9 years by intermittent administration of busulfan. However, anemia suddenly progressed in February, 1986 followed by leukopenia and thrombocytopenia. Hemorrhage was not detected by the examination. Though he had been received blood transfusion, the anemia progressed rapidly. He was died of cachexia on 4th of August, 1987. The postmortem examination revealed bone marrow aplasia with no signs of blast crisis nor myelofibrosis. Secondary hemochromatosis was seen in the liver, spleen, pancreas and some other organs.     

Monocytic skin infiltration in chronic myelomonocytic leukaemia

Although leukaemic infiltration of the skin commonly occurs in acute monoblastic leukaemia, the association with chronic myelomonocytic leukaemia (CMML) has only been described recently. We confirm the association and report histologically proven monocytic infiltration of the skin in four patients with CMML. This did not herald a more aggressive phase of the disease as previously suggested. Treatment of the rash with low dose cytarabine or etoposide was effective but razoxane produced no benefit. Superficial radiotherapy was useful to control pruritus in one patient.     

Chronic myelomonocytic leukemia with pleural effusion as the first clinical sign

We report a chronic myelomonocytic leukemia (CMML) patient whose initial symptom was pleural effusion, which is extremely rare. A 61-year-old male was referred to our hospital because of leukocytosis with blasts and pleural effusion with chest pain. Bone marrow examination showed trilineage dysplasia with 14% blasts and a normal karyotype. He was diagnosed as having MDS (RAEB) and infectious pleuritis on admission. Despite administration of antibiotics, leukocytosis with monocytosis and pleural effusion progressed rapidly. His diagnosis was then changed to CMML-2 and pleural infiltration due to leukemic cells expressing CD13, CD14 and CD33. After the leukocytosis was brought under control with hydroxycarbamide, the patient's pleural effusion disappeared.     

A splenic hydatid cyst case presented with lumbar pain

A splenic hydatid cyst is a rare clinical entity from among abdominal hydatid cysts, even in endemic countries. Here, a case with lumbar pain due to a giant splenic hydatid cyst is presented. The importance of this case is that the patient presented at the clinic with only lumbar pain. Initial direct abdominal plain radiography showed a giant abdominal calcification in the spleen and further examinations revealed involvement of three organs: spleen, lung, and liver.     

Multifocal fibrosclerosis combined with idiopathic retro-peritoneal and pericardial fibrosis

A 70-year-old man who had been diagnosed with retroperitoneal fibrosis (RPF) was admitted to our hospital complaining of dyspnea. Imaging studies showed massive pericardial effusion. His condition deteriorated and pericardiostomy was performed. A biopsy of the pericardium revealed marked fibrosis with infiltration of lymphocytes, which was identical to RPF findings. A diagnosis of multifocal fibrosclerosis was made. Despite aggressive treatment, he died with clinical signs of cardiovascular failure. The autopsy specimen revealed proliferation of fibrosis with infiltration of lymphocytes in multiple organs. Even after successful decompression of urinary obstruction for RPF, long-term follow-up is necessary in these patients because of the possibility of other fatal complications such as pericardial fibrosis.     

Levovist ultrasonography imaging in intracystic hemorrhage of simple liver cyst

The differential diagnosis between intracystic hemorrhage and cystadenocarcinoma of the liver is often difficult even with the use of various imaging modalities. A 73-year-old woman was admitted to our hospital with the complaint of right upper quadrant pain. Ultrasonography （US） demonstrated a heterogeneous echogenic cyst measuring 11 cm × 8 cm in size in S2 of the liver, indicated intracystic hemorrhage of simple liver cyst or cystadenocarcinoma, but the differential diagnosis was considerably difficult. Levovist （Schering, Berlin, Germany） US revealed no enhancement of the intracystic structures, suggesting a clot in the case of intracystic hemorrhage. An operation was performed and the resected lesion showed a solitary benign liver cyst, measuring 5.5 cm × 4.7 cm × 8.5 cm containing a large blood clot. The patient had an uneventful recovery after the surgery. Levovist US may play an important role in discrimination between intracystic hemorrhage of simple hepatic cysts and cystadenocarcinoma of the liver.     

Pathological splenic rupture: a rare complication of chronic myelomonocytic leukemia

Chronic myelomonocytic leukemia (CMML) is an uncommon disorder characterized by monocytosis of the peripheral blood, absence of the Philadelphia chromosome, fewer than 20% blasts, and one or more lineages showing dysplastic features. Splenomegaly is frequently seen and may be massive. A 56-year-old man with stable CMML and moderate splenomegaly presented to the emergency department with generalized abdominal pain and abrupt drop in hemoglobin. Abdominal imaging revealed splenic rupture and emergency splenectomy was undertaken, with complete recovery. Atraumatic rupture of the spleen has rarely been reported as a complication of CMML or other myelodysplastic disorders. This report should alert physicians to consider this diagnosis in patients with CMML and acute abdominal pain.     

Skin infiltration associated with chronic myelomonocytic leukaemia

Chronic myelomonocytic leukaemia (CMML) is typically associated with a prolonged clinical course and is not usually very responsive to chemotherapeutic intervention. Skin infiltration has not been recognized previously as a feature of this illness. We have seen four patients recently with CMML, who during the the course of their illness developed marked skin infiltration. Whilst sensitivity to chemotherapy could be demonstrated in the peripheral blood cell population, skin infiltration was quite resistant to treatment. Skin infiltration heralded a more aggressive phase of the disease although no discernible change in morphology, cytochemistry or membrane marker analysis of the leukaemic cell population could be demonstrated in three of the patients studied; one patient, however, transformed to an acute leukaemia shortly thereafter.     

Destructive granuloma derived from a liver cyst： A case report

We herein report the case of an idiopathic liver cystic mass which aggressively infiltrated the thoraco-abdominal wall. A 74-year-old woman who had a huge cystic lesion in her right hepatic lobe was transferred to our hospital for further examinations. Imaging studies revealed a simple liver cyst, and the cytological findings of intracystic fluid were negative. She was followed up periodically by computed tomography (CT) scans. Seven years later, she complained of a prominence and dull pain in her right thoraco-abdominal region. CT revealed an enlargement of the cystic lesion and infiltration into the intercostal subcutaneous tissue. We suspected the development of a malignancy inside the liver cyst such as cystadenocarcinoma, and she therefore underwent surgery. A tumor extirpation was performed, including the chest wall, from the 7th to the 10th rib, as well as a right hepatic lobectomy. Pathologically, the lesion consisted of severe inflammatory change with epi-thelioid cell granuloma and bone destruction without any malignant neoplasm. No specific pathogens were evident based on further histological and molecular examinations. Therefore the lesion was diagnosed to be a destructive granuloma associated with a long-standing hepatic cyst. Since undergoing surgery, the patient has been doing well without any signs of recurrence.     

Relapse of diffuse large B cell lymphoma to CD20-negative multiple cutaneous tumors immediately after anti-CD20 monoclonal antibody (rituximab) therapy

A 60-year-old male was referred to our hospital because of cervical lymphadenopathy and a left hilar abnormal shadow seen on chest X-ray in May 1999. The pathological findings of the cervical lymph nodes revealed that the patient had a malignant lymphoma, of the diffuse large B cell type, at clinical stage IIIB. Immunohistochemistry demonstrated that the lymphoma cells were positive for CD11a, CD19, CD20, CD23, CD25, CD45, IgM, IgD and lambda, but negative for CD5. Although a complete remission was obtained after 8 courses of CHOP therapy, the patient relapsed 32 months later. Two courses of a half dose of CHASE therapy consisting of CPM, ara-C, VP-16 and dexamethasone, followed by rituximab (600 mg/week x4) resulted in a transient re-induction of complete remission. However, multiple cutaneous tumors became apparent just 10 days after the last rituximab therapy. Immunohistochemistry of the cutaneous tumors revealed infiltration of CD20-negative lymphoma cells. A series of chemotherapy including high-dose MTX was ineffective, and the patient died in August 2003. Autopsy findings revealed the systemic intra-capillary infiltration of CD20 negative-lymphoma cells into multiple organs, including the lungs, liver, and kidneys. A CD20 negative-clone selected by rituximab therapy appeared to have expanded in this case.     

Community acquired sepsis by Serratia rubidaea

A 48-year-old male who had a past history of alcoholic pancreatitis and diabetes mellitus was admitted to our hospital due to chills and vomiting, on August 13, 1998. His body temperature was 38.0 degrees C, and he had the disturbance of consciousness, tachypnea, tachycardia and hepatomegaly with tenderness. Laboratory findings showed highly inflammatory reactions, DIC and hepatorenal dysfunction. Abdominal CT and US revealed multiple liver abscess with portal vein thrombus. Serratia rubidaea was detected in the blood culture. SBT/CPZ and TOB were administered and he recovered. This is a rare case of Serratia rubidaea sepsis. It is also necessary to pay attention to Serratia infections as well as S. marcescens.