[Myelophthisis and gastric cancer. An unusual association]. / Mieloptisis y cáncer gástrico. Una asociación infrecuente.

The infiltration of the bone marrow y non-hematopoietic cells is called myelophthisis. In patients with gastric cancer, this invasion is extremely infrequent and the survival is usually less than three months. We present the case of a 35-year-old man with bone marrow involvement secondary to diffuse gastric carcinoma of signet ring cells.

Se denomina mieloptisis a la infiltración de la médula ósea por células no hematopoyéticas. En pacientes con cáncer gástrico esta invasión es extremadamente infrecuente y la supervivencia suele ser menor a tres meses. Presentamos el caso de un hombre de 35 años con compromiso de la médula ósea secundario a un carcinoma gástrico difuso de células en anillo de sello.

Mieloptisis y cáncer gástrico: Una asociación infrecuente / Myelophthisis and gastric cancer. An unusual association

Se denomina mieloptisis a la infiltración de la médula ósea por células no hematopoyéticas. En pacientes con cáncer gástrico esta invasión es extremadamente infrecuente y la supervivencia suele ser menor a tres meses. Presentamos el caso de un hombre de 35 años con compromiso de la médula ósea secundario a un carcinoma gástrico difuso de células en anillo de sello.

The infiltration of the bone marrow y non-hematopoietic cells is called myelophthisis. In patients with gastric cancer, this invasion is extremely infrequent and the survival is usually less than three months. We present the case of a 35-year-old man with bone marrow involvement secondary to diffuse gastric carcinoma of signet ring cells.

Bicytopenia and leukoerythroblastosis: a rare initial presentation of signet ring cell gastric adenocarcinoma

Gastric adenocarcinoma is a common neoplasia and is responsible for up to 30% of the overall deaths due to cancer. Advanced disease is mostly characterized by peritoneum, liver, and lung involvement. The spread of the disease to the bone is rare, and bone marrow dissemination is even rarer. In this setting, leukoerythroblastosis may be the initial manifestation of the disease. The authors report the case of a 64-year-old Caucasian man who sought medical care complaining of back pain, weakness, and weight loss. The physical examination revealed pallor, and the laboratory work-up depicted severe anemia and thrombocytopenia; the peripheral blood smear was consistent with leukoerythroblastosis. The ongoing investigation through a bone marrow biopsy showed massive involvement of the bone marrow by a signet ring cell adenocarcinoma. During hospitalization, the patient presented melena, and an upper digestive endoscopy depicted an ulcerated and infiltrative lesion in the cardia, upon which the histological examination revealed a signet ring cell adenocarcinoma. This case highlights the bone marrow invasion represented by bicytopenia and leukoerythroblastosis as the initial manifestation of this histological type of gastric cancer. Although treatment attempts were made with chemotherapy and radiotherapy, the patient died early on, showing the aggressive behavior of this form of tumoral presentation.

Response after treatment with pembrolizumab in a patient with myelophthisis due to melanoma: the role of checkpoint inhibition in the bone.

BACKGROUND: Myelophthisis due to melanoma is a rare phenomenon. Treatment strategies for patients with this serious complication of malignancy have not been well documented, and none have previously reported efficacy of immune checkpoint inhibition. Since bone metastases are not measurable lesions per standard response criteria, the efficacy of immune checkpoint inhibition in the bones is also not well described. CASE PRESENTATION: We describe a patient with widespread melanoma metastases involving the bone marrow causing myelophthisis and pancytopenia who responded to immune checkpoint inhibition with the anti-programmed cell death-1 (PD-1) inhibitor pembrolizumab. CONCLUSIONS: This is the first report to our knowledge of disease response to immune checkpoint inhibition in a patient with myelophthisis. Clinical trials have recently emerged describing the efficacy of PD-1 inhibition for disorders regularly involving the bone marrow, such as hematologic malignancies, suggesting the importance of better understanding the bone marrow as an immunologically active compartment. Clinicians should be aware that immune checkpoint inhibition alone may be effective in treating malignancy involving the bone marrow, even in cases of extensive involvement resulting in pancytopenia due to myelophthisis from a solid tumor as our case suggests.

[Myelophthisis and kasabach merrit syndrome as initial manifestation of splenic angiosarcoma].

Primary splenic angiosarcoma is an extremely agressive and rare neoplasm. Manifestations as bone marrow invasion and coagulation disorders have been reported isolatedly. A 26 years-old woman presented with abdominal pain; several anemia and thrombocytopenia associated to leukoerythroblastic reaction were found in the laboratory. Consumpion coagulopathy signs and microangiopathy as schistocytes, prolonged prothrombine time, decreased fibrinogen and increased D dimer were also present. Imaging findings included a lobulated, enlarged spleen, with spontanously hyperdense areas, and heterogeneous nodules with intense, irregular enhancement after contrast administration. There were hepatic and pulmonary metastases, as well as bone lesions with conspicuous vessels. Clinical features of Kasabach-Merrit syndrome and imaging vascular neoplasm characteristics suggest a primary splenic angiosarcoma. Splenectomy and bone marrow biopsy confirmed the diagnosis of primary splenic angiosarcoma in metastatic stage.

Severe vitamin B12 deficiency with pancytopenia, hepatosplenomegaly and leukoerythroblastosis in two Syrian refugee infants: a challenge to differentiate from acute leukaemia.

Megaloblastic anaemia due to vitamin B12 deficiency is rare in childhood. However, as most cases are due to maternal insufficiency, it is mainly seen in breastfed infants especially when the mother's socioeconomic status is low and the nutrition is not adequate. We present case of two Syrian refugee infants with severe vitamin B12 deficiency with pancytopenia, hepatosplenomegaly and leukoerythroblastosis.

Leucoerythroblastosis and thrombocytopenia as clues to metastatic malignancy.

The association of metastatic breast cancer presenting as thrombocytopenia and anaemia is demonstrated in the following case of a 79-year-old woman. Her main symptoms were abdominal pain, altered bowel habit and weight loss. Without a clear causative pathology, she underwent a CT scan which demonstrated multiple sclerotic bone lesions. With a raised CA15-3 and strong oestrogen receptor positivity on immunohistochemistry on a trephine bone marrow biopsy, a diagnosis of metastatic lobular breast cancer was made. Interestingly, only a small breast mass was noted on mammography. The patient was managed conservatively and initiated on supportive therapy. This case report summarises the varying presentation of bone marrow suppression secondary to metastatic infiltration, especially in the absence of classical symptoms associated with primary solid tumour. Accurate bone marrow analysis is also vital in establishing the final diagnosis.

Mielopatia por deficiência de cobre / Cupper deficiency myelopathy

A deficiência de cobre (CU) adquirida ganha reconhecimento como causa de anemia e neutropenia. Na última década, ela é reconhecida como produtora de mielopatia ou mieloneuropatia degenerativa, que mimetiza a deficiência de vitamina de B12, podendo apresentar-se em concomitância com essa última. Foram discutidos etiologias, fisiopatologia, diagnósticos diferenciais e tratamentos, assim como achados radiológicos caraterísticos na ressonância nuclear magnética (RNM), principalmente na imagem ponderada T2, da medula cervical e dorsal, confrontando-as com dados laboratoriais direcionados à patologia, conseguindo-se maior acurácia diagnóstica. Observou-se que o diagnóstico precoce pode reverter a doença do ponto de vista laboratorial, de imagem e neurológico ou estabilizar a progressão. Sendo assim, recomendamos incluir na pesquisa laboratorial das cirurgias bariátricas, gastrectomias, síndromes de má-absorção e na administração oral de zinco (Zn)...

Acquired copper (Cu) deficiency has been recognized to promote anemia and neutropenia. During the last decade degenerative myelopathy or myeloneuropathy diseases that can be mimicked by vitamin B12 deficiency or in another cases both of them (Cu and B12 deficiency) can coexist. We researched etiologies, physiopathology, differential diagnostic, treatment and radiologic findings in MRI, that showed high T2 signal in posterior cervical and thoracic cord and when assembled with laboratorial data we achieved accurate diagnostics. We observed that precocious diagnostic could revert the disease and improve neurologic deficit or stabilize its progression. However, we recommend laboratorial research in bariatric surgery, gastrectomy, malabsortion syndromes and high zinc levels administration...

Case of metastatic basal cell carcinoma to bone marrow, resulting in myelophthisic anemia.

BACKGROUND: While basal cell carcinoma (BCC) remains the most common skin cancer, the incidence of metastasis is rare. Most cases of metastatic BCC have been to regional lymph nodes. Metastasis to bone marrow with myelophthisic anemia is especially rare. To our knowledge, there have been only 5 reported cases in literature. We report a sixth case. OBSERVATIONS: A 46-year-old male patient presented with an 8 × 7-cm ulcerated plaque on his chest, found to be morpheaform basal cell on pathology. Laboratory findings were notable for normocytic anemia, thrombocytopenia, and elevated LDH. Further work up with bone marrow biopsy revealed tumor cells staining positive for CK AE1/AE3, BerEP4, CK7, CD56, and PIN-4. This confirmed the diagnosis of metastatic BCC (MBCC) to bone marrow. CONCLUSIONS: Although the rate of metastasis for BCC is rare, once it occurs, prognosis is poor. MBCC remains a challenge to treat. Therefore, it is critical to resolve the primary BCC and obtain vigilant follow-up, especially in patients with multiple risk factors for MBCC.

Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults.

Primary myelofibrosis is a chronic myeloproliferative neoplasm characterized by cytopenias, leukoerythroblastosis, extramedullary hematopoiesis, hepatosplenomegaly and bone marrow fibrosis. Primary myelofibrosis is a rare disorder in adults; children are even less commonly affected by this entity, with the largest pediatric case series reporting on three patients. Most literature suggests spontaneous resolution of myelofibrosis without long term complications in the majority of affected children. We describe the clinical, pathologic, and molecular characteristics and outcomes of nineteen children with primary myelofibrosis treated in our center from 1984 to 2011. Most patients had cytopenia significant enough to require supportive therapy. No child developed malignant transformation and only five of the 19 children (26%) had spontaneous resolution of disease. Sequence analyses for JAK2V617F and MPLW515L mutations were performed on bone marrow samples from 17 and six patients, respectively, and the results were negative. In conclusion, analysis of this large series of pediatric patients with primary myelofibrosis demonstrates distinct clinical, hematologic, bone marrow, and molecular features from adult patients.

Microangiopathic hemolytic anemia and leukoerythroblastic blood film heralding bone marrow metastatic gastroesophageal adenocarcinoma.

Despite modern technological advancements in laboratory hematology, the blood film remains an important diagnostic aid. Herein, we report the case of a patient with a history of gastric cancer, who presented seven years following apparently successful surgery and adjuvant chemo-radio-therapy, with blood film findings of microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and leukoerythroblastosis (LEB). Although mimicking features of thrombotic thrombocytopenic purpura (TTP), subsequent bone marrow examination instead revealed an association with occult recurrence of necrotic, metastatic gastric adenocarcinoma. This case report and literature review highlight these rare, but important, hematological manifestations of gastric cancer, and the importance of astute laboratory and bone marrow investigations in preventing delays in appropriate treatment of the underlying malignancy.

Ghosal hematodiaphyseal dysplasia: a rare cause of a myelophthisic anemia.

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare clinical syndrome characterized by increased bone density and a severe, myelophthisic anemia. Few cases have been reported worldwide and there are no detailed descriptions of the associated hematologic abnormalities and long-term clinical outcomes after treatment. Here, we report two siblings with GHDD who were successfully treated with chronic, low dose, corticosteroid therapy. Although GHDD is uncommon, these cases illustrate the need to consider GHDD in patients with anemia and bone dysplasia and the use of chronic, low-dose steroid therapy.

Transient leukoerythroblastosis in a very low birth weight infant with parvovirus B19 infection.

BACKGROUND: Leukoerythroblastosis is characterized by the presence of leukocytosis and erythroid and myeloid blast cells in the peripheral blood. The most common etiological factors of leukoerythroblastosis occurring during early childhood are viral infections, juvenile myelomonocytic leukemia, and osteopetrosis. To our knowledge, an association with parvovirus B19 infection has only been reported in a preterm infant. Human parvovirus B19 has been associated with red cell aplasia, leukopenia, and thrombocytopenia. CASE REPORT: The case of a very low birth weight preterm infant with transient leukoerythroblastosis associated with parvovirus B19 infection is described. CONCLUSIONS: Leukoerythroblastosis has to be kept in mind if a very high leukocyte count is detected in the neonatal period, and parvovirus B19 infection should be taken into consideration as the etiological factor for this entity.