Rare Neoplastic Condition Research Articles

Current Treatment Concepts for Extra-Abdominal Desmoid-Type Fibromatosis: A Narrative Review.

Extra-abdominal desmoid-type fibromatosis (EADTF) is a rare neoplastic condition of monoclonal fibroblastic proliferation characterized by local aggressiveness with a distinct tendency to recur. Although EADTF is a benign disease entity, these tumors have a tendency to infiltrate surrounding normal tissues, making it difficult to completely eliminate them without adjacent healthy tissue injury. Surgical excision of these locally aggressive tumors without clear resection margins often leads to local recurrence. The aim of this thorough review was to assess the current treatment concepts for these rare tumors. A comprehensive search of articles published in the Cochrane Library, MEDLINE (PubMed), and EMBASE databases between January 2008 and February 2023 was conducted. Surgical intervention is no longer the first-line approach for most cases; instead, strategies like active surveillance or systemic therapies are used as initial treatment options. With the exception of EADTFs situated near vital structures, a minimum of 6-12 months of active surveillance is currently advocated for, during which some disease progression may be considered acceptable. Non-surgical interventions such as radiation or cryoablation may be employed in certain patients to achieve local control. The currently preferred systemic treatment options include tyrosine kinase inhibitors, low-dose chemotherapy, and gamma-secretase inhibitors, while hormone therapy is not advised. Nonsteroidal anti-inflammatory drugs are utilized primarily for pain management.

Meta-Analysis of Clinicopathological and Biological Characteristics of Myeloid Sarcoma

Introduction Myeloid sarcoma (MS), is a rare neoplastic condition which can occur without bone marrow involvement as isolated MS, concurrently with bone marrow involvement as acute myeloid leukemia (AML) or other myeloid malignancies, or as a secondary type which occurs as a result of therapy or relapse after achieving AML remission. Apart from the unique presentation, different reviews have reported both favorable and unfavorable outcomes in patients with MS when compared with AML. Literature involving systematic studies of MS patients are limited, with sample sizes of studies over the last two decades rarely exceeding 100 patients. The aim of this study was to perform a meta-analysis of the largest cohort of MS and describe clinical and pathological parameters in order to comprehensively characterize MS. Methods A PubMed literature search involving all available research articles pertaining to MS across all age groups from 1999-2023 was conducted using keywords and MeSH search terms. Results from the literature search were independently reviewed by two authors, and references of each study were also reviewed for any relevant additions. The primary meta-analytic approach for descriptive data was a random effects model to calculate the effect size in terms of proportion with 95% confidence interval (CI) (Neyeloff et al., 2012). Median age and survival data were analyzed using a meta-analysis of medians approach with a random effects model to calculate pooled estimates using R software (McGrath et al., 2023). I 2 statistic and Q-statistic were used to assess for heterogeneity. PROSPERO systematic review registration pending under ID# 450876. Results A total of 5178 patients with MS from 57 studies were included. After dividing studies by age group, the median age of adult patients was 52 ys. (95% CI: 49-56) and 5 ys. (95% CI: 3-6) for the pediatric population. The proportion of males was 56.7% (95% CI: 54.5-59), with an I 2 statistic of 0% suggesting homogeneity in reported gender data. Diagnosis of myeloid sarcoma with concurrent AML had a higher proportion of cases than isolated disease (64 vs. 38.6%). Presence of leukemia cutis was 28.8% (95% CI: 24.2-33.3). There was a higher proportion of patients with abnormal karyotype, including those with complex and intermediate/poor risk, compared to normal karyotype (43.6 vs. 29%). Pooled weighted median white blood cell count was 16.7 x10 3/mL (95% CI: 10.9-22.5), with hemoglobin of 11.6 g/dL (95% CI: 10.0-13.1) and platelet count of 140 x10 9/L (95% CI: 68.9-212). Pooled immunohistochemistry (IHC) data revealed highest proportions with markers MPO, CD117, and CD68 (61.5, 44.7, and 38.1%, respectively), and least with CD56 (18.6%). Proportions of gene mutations of FLT3, TP53, and NPM1, including both bone marrow and extramedullary samples, were 14.8% (95%CI: 9.6-19.9), 6% (95%CI: 2.6-9.4), and 15% (95%CI: 10-20), respectively. Median survival data was screened for complete data parameters including median survival of entire cohort and reported 95% CI. Outcomes data was pooled from 4 studies representing 301 patients, wherein 3 examined adult populations and 1 was mixed. Weighted median overall survival was 14 months (95% CI: 10.6-18.4). A large proportion of patients received intensive chemotherapy (82%), whereas 38.2% of patients received hematopoietic stem cell transplant. The proportion of those who received radiotherapy was 21.8%, and 10.4% of patients received only supportive measures. Conclusions Our large cohort meta-analysis of myeloid sarcoma patients further highlights the clinical and biologic characteristics of this rare presentation. The results of our study suggests a predilection for males, and further studies are needed to validate this finding. Further analysis including the effect on bone marrow transplant on MS outcomes will be presented at the ASH 2023 meeting.

248.5: Development of Serological Tools for Diagnosis of Human Herpesvirus 8 Infection and Their Application to Estimate Antibody Prevalence in English Blood and Organ Donor Populations

Introduction: Human Herpesvirus 8 (HHV-8), also known as Kaposi sarcoma-associated herpes virus, is aetiologically associated with all forms of Kaposi’s Sarcoma (KS), including transplant-related, as well as rare neoplastic conditions such as primary effusion lymphomas and multicentric Castleman disease. Solid organ transplant recipients have a much higher risk of KS compared to the general population and the role of serological screening in this setting has been long debated; there is currently no standard method of screening for HHV-8 infection and serology has been largely used for sero-epidemiological purposes. The latent nature of the virus makes determination of HHV-8 infection status complex and investigations may lead to inaccuracies. Methods: To fulfil the critical gaps in the diagnosis of asymptomatic virus infection, a combination of serological tools for the detection of antibody to both HHV-8 lytic and latent antigens have been developed and compared with the commercial lytic antigen-based immunofluorescence assay (IFA, Scimedx Corp), which is commonly used in Europe for the detection of antibodies to HHV-8. The developed assays include an in-house latent IFA assay that utilises latently infected PEL cells as well as two Double Antigen Binding Assays (DABAs) which utilise major HHV-8 antigens; ORF73 and K8.1 e(latent and lytic proteins, respectively). Results: Initial data gained from the testing of samples from identified patients with ongoing HHV-8 disease indicate a good concordance between both latent and lytic antibody assays. Studies are underway to determine the performance of these assays for the identification of asymptomatic infection and are being applied to establish the prevalence of HHV-8 antibodies in donor populations. Conclusion: HHV-8 has a complex serological profile and the availability of tools based on a range of formats which target multiple proteins will better inform on seroprevalence rates both at a population level and within specific at-risk groups.

Erythrophagocytic multiple myeloma in a dog.

A 5-y-old spayed female Golden Retriever dog was referred because of severe normocytic normochromic nonregenerative anemia and thrombocytopenia. Serum analysis revealed hyperproteinemia and monoclonal or oligoclonal gammopathy. Fine-needle aspiration of the spleen revealed a highly erythrophagocytic population of neoplastic round cells, morphologically suggestive of plasma cells. After euthanasia, histologic assessment of the spleen and liver revealed an erythrophagocytic round cell tumor. Immunohistochemical analysis of the tumor population was positive for MUM1p and negative for CD3, CD20, and Iba-1, confirming the plasma cell origin of the tumor. Erythrophagocytic multiple myeloma is a very rare neoplastic condition in dogs.

Malignant Melanoma of Anal Canal

Anal melanoma (AM) is a rare and highly aggressive mucosal melanocytic malignancy. We report a case of 70 year old male presented with chief complaints of anal pain and intermittent rectal bleeding with clinical diagnosis of Polyp or Carcinoma. On histopathology examination malignant melanoma was suggested which was further confirmed by immunohistochemistry (S100 and HMB 45 strongly positive). Anal melanoma is rare neoplastic condition with catastrophic outcome.

Desaturation-Distance Ratio During Submaximal and Maximal Exercise Tests and Its Association With Lung Function Parameters in Patients With Lymphangioleiomyomatosis.

Background: The desaturation–distance ratio (DDR), the ratio of the desaturation area to the distance walked, is a promising, reliable, and simple physiologic tool for functional evaluation in subjects with interstitial lung diseases. Lymphangioleiomyomatosis (LAM) is a rare neoplastic condition frequently associated with exercise impairment. However, DDR has rarely been evaluated in patients with LAM.Objectives: To assess DDR during maximal and submaximal exercises and evaluate whether DDR can be predicted using lung function parameters.Methods: A cross-sectional study was conducted in a cohort of women with LAM. The 6-min walking test (6MWT) and the incremental shuttle walking test (ISWT) were performed, and DDR was obtained from both tests. The functional parameters were assessed at rest using spirometry and body plethysmography. The pulmonary function variables predictive of DDR were also assessed.Results: Forty patients were included in this study. The mean age was 46 ± 10 years. Airway obstruction, reduced DLCO, and air trapping were found in 60, 57, and 15% of patients, respectively. The distance walked and the DDR for the 6MWT and ISWT were, respectively, 517 ± 65 and 443 ± 127 m; and 6.6 (3.8–10.9) and 8.3 (6.2–12.7). FEV1 (airway obstruction) and reduced DLCO and RV/TLC (air trapping) were independent variables predictive of DDR during exercises field tests [DDR6MWT = 18.66–(0.06 × FEV1%pred)–(0.10 × DLCO%pred) + (1.54 × air trapping), = 0.43] and maximal [DDRISWT = 18.84–(0.09 × FEV1%pred)–(0.05 × DLCO%pred) + (3.10 × air trapping), = 0.33].Conclusion: Our results demonstrated that DDR is a useful tool for functional evaluation during maximal and submaximal exercises in patients with LAM, and it can be predicted using airway obstruction, reduced DLCO, and air trapping.

Polydactylous Squamous Cell Carcinoma of the Nail Unit: A Structured Review of the Literature.

Squamous cell carcinoma of the nail unit (SCCNU) is a rare neoplastic condition that involves multiple digits (polydactylous SCCNU) in only 3.9% of cases. Here, we report a case of polydactylous SCCNU and perform a comprehensive review of MEDLINE and Embase to collate 44 cases of polydactylous SCCNU reported to date. Polydactylous patients were younger on average (48 to 61-63 years) and had a longer diagnostic delay (44 vs 35.1 months) compared with reported monodactylous cases. Human papillomavirus (HPV) positivity was observed in 49% of cases, and the most common serotypes noted were 16 (25.8%), 73 (16.1%), 58 (9.7%), 18 (6.5%), and 33 (6.5%). Twenty percent of the cases were in immunosuppressed individuals who had a statistically significant lower age at diagnosis (39.33 years vs 51.12 years; P = .01) and diagnostic delay (2.50 months vs 132.46 months, P = .04). Patients with HPV positivity had a lower age at diagnosis (43.74 years vs 53.29 years, P = .04). Environmental exposures noted to be associated with polydactylous disease included X-rays, paint/solvents, soluble oils, and stagnant water. This comprehensive literature review serves to characterize polydactylous SCCNU and distinguish the differences in its characteristics to improve diagnosis and clinical recognition.

A Rare Case of Thecoma In a Dog

Ovarian tumours represent a rare neoplastic condition in dogs and is generally observed in older subjects; they are classified based on the tissue involved; epithelial, stromal and germinal [1].

Aggressive mycosis fungoides/sézary syndrome in Nigeria: case report and literature review

<p class="abstract">Mycosis fungoides and its variant, sézary syndrome are rare neoplastic conditions which are part of a larger group of lymphomas that primarily affect the skin known as cutaneous T-cell lymphomas. We report a case of fatal aggressive mycosis fungoides/sézary syndrome in a 55-year old Nigerian man who initially developed pruritic hyperpigmented spots on his skin which progressed over the course of 5 years to widespread scaly mixed hyperpigmented and hypopigmented plaques and nodules with features of organ involvement despite being managed with Psoralen and ultraviolet A radiation (PUVA), total skin electron-beam (TSEB), local electron-beam radiation, bexarotene, and oral prednisolone and chlorambucil (Winklemann regimen). In the process, we highlight the rarity of the condition, its ease of misdiagnosis and its predilection for people of Sub-Saharan decent.</p>

Multidisciplinary care in tenosynovial giant cell tumours.

Tenosynovial giant cell tumour is a rare neoplastic condition of the joint that generally affects patients younger than 40 years. 1 Tap WD Wainberg ZA Antony SP et al. Structure-guided blockade of CSF1R kinase in tenosynovial giant-cell tumor. N Engl J Med. 2015; 373: 428-437 Crossref PubMed Scopus (325) Google Scholar It is not a malignancy per se, but for many, it is far from a benign disease and often causes substantial morbidity and disability due to pain, joint destruction, the need for repeated surgical intervention, and the use of analgesics and narcotics. Although not life-threatening, tenosynovial giant cell tumours can disrupt daily living and adversely alter an individual's life trajectory. Tenosynovial giant cell tumour is a complex disease with a wide breadth of clinical sequalae. Understanding of this disease has changed substantially in the past 10 years after causative genomic events were described. 2 West RB Rubin BP Millar MA et al. A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cells. Proc Natl Acad Sci USA. 2006; 103: 690-695 Crossref PubMed Scopus (363) Google Scholar The discovery of these genomic events has allowed for the development and application of promising therapeutics targeting CSF1 signalling, which are further driving our knowledge base and greatly informing clinical practice. 1 Tap WD Wainberg ZA Antony SP et al. Structure-guided blockade of CSF1R kinase in tenosynovial giant-cell tumor. N Engl J Med. 2015; 373: 428-437 Crossref PubMed Scopus (325) Google Scholar , 3 Cassier PA Italiano A Gomez-Roca CA et al. CSF1R inhibition with emactuzumab in locally advanced diffuse-type tenosynovial giant cell tumours of the soft tissue: a dose-escalation and dose-expansion phase 1 study. Lancet Oncol. 2015; 16: 949-956 Summary Full Text Full Text PDF PubMed Scopus (236) Google Scholar The introduction of CSF1 receptor inhibitors came with the realisation that much needed to be learned about what patients with tenosynovial giant cell tumours go through and how the medical community could best serve them. This realisation prompted the medical and pharmaceutical community to partner with patients, patient advocacy, and patient support groups to learn more about the disease, to develop novel patient-reported outcome measures 4 Gelhorn HL Tong S McQuarrie K et al. Patient-reported symptoms of tenosynovial giant cell tumors. Clin Ther. 2016; 38: 778-793 Summary Full Text Full Text PDF PubMed Scopus (54) Google Scholar and potentially new imaging techniques, 1 Tap WD Wainberg ZA Antony SP et al. Structure-guided blockade of CSF1R kinase in tenosynovial giant-cell tumor. N Engl J Med. 2015; 373: 428-437 Crossref PubMed Scopus (325) Google Scholar and to review and scrutinise historical experiences. 5 Palmerini E Staals EL Maki RG et al. Tenosynovial giant cell tumour/pigmented villonodular synovitis: outcome of 294 patients before the era of kinase inhibitors. Eur J Cancer. 2015; 51: 210-217 Summary Full Text Full Text PDF PubMed Scopus (79) Google Scholar This effort is paramount because the correct application of targeted therapies in tenosynovial giant cell tumours is not straightforward. Although active, many drugs have serious side-effects and associated financial costs. Much still needs to be learned about appropriate application, patient selection, timing of therapy, and length of use; decisions that need to be made in a multidisciplinary fashion, inclusive of the patient and their care team. Surgical outcomes of patients with diffuse-type tenosynovial giant-cell tumours: an international, retrospective, cohort studyThis study of patients with diffuse-type tenosynovial giant-cell tumour provides a comprehensive and up-to-date disease overview, assessing the clinical profile and management of the disease in multiple specialised referral centres. Surgical treatment of diffuse-type tenosynovial giant cell tumours is not a definitive treatment for every patient because it involves a high risk for local recurrent disease and a relatively high risk for postoperative complications. After surgical treatment in treatment-naive patients, risk factors for recurrent disease in individual patients were not identified in what we believe is the largest cohort to date. Full-Text PDF

Can Medulloblastoma be Presented with Primary Diffuse Leptomeningeal Gliomatosis? Case Report and Literature Review

Primary diffuse leptomeningeal Gliomatosis (PDLG) is a rare neoplastic condition characterized by primary infiltration of leptomeninges by malignant glial cells which is extremely rare to be as a result of medulloblastoma. To the best of our knowledge, there are only 5 reported localized forms of PDLG cases due to medulloblastoma affecting mainly posterior fossa and/or part of cerebrum. In this article, we are reporting for the first time a case of PDLG with extensive diffuse involvement of leptomeninges due to medulloblastoma extending from the cerebrum to sacral area in 4-year old child presented with acute headache, abducent nerve palsy and papilledema with dramatic response to chemotherapy.

Diagnosis and management of patients with malignant peritoneal mesothelioma.

Malignant peritoneal mesothelioma (MPM) is a rare neoplastic condition that arises, usually diffusely, from the serosal membranes of the abdominal cavity. MPM represents about 7% to 10% of all mesothelioma diagnoses and this translates into approximately 800 cases per year in the United States. The disease has variable tumor biology but progression, when it occurs, is almost always within the abdominal cavity. Although many patients can be successfully treated at initial presentation, the disease is almost always fatal in time. It afflicts men and women almost equally and the median age at presentation is 50 years. The diagnosis is made when a diffuse malignant process within the abdominal cavity is observed and a tissue sample reveals the characteristic histopathology and immunohistochemical profile of mesothelioma. Initial staging is usually via a cross sectional imaging study of the abdomen and pelvis making sure that the lower thorax is also assessed. If the disease burden and distribution is favorable then operative exploration, cytoreduction, and hyperthermic intraperitoneal chemotherapy (HIPEC) are considered first line treatment in selected patients. Systemic pemetrexed and cisplatin (or gemcitabine) have modest response rates that are of limited duration. Research advances with novel systemic or intraperitoneal agents hold promise.

Bilateral ovarian carinosarcoma-a rare entity

Malignant mixed Mullerian tumor (carcinosarcoma) of the ovary is rare neoplastic condition with an incidence of less than 1% of all ovarian neoplasms. Histologically, carcinosarcomas comprise of epithelial as well as mesenchymal components, which are either homologous (normally found in ovary) or heterologous (not normally seen in ovary). Here, we report a case of a 50 year old female patient who presented with abdominal distension and was diagnosed as malignant mixed mullerian tumor of bilateral ovaries histopathologically. Carcinosarcomas of the ovary are extremely rare and aggressive. We wanted to draw the attentionthat although it is more frequently unilateral and seen among the postmenopausal nullipara women, malignant mixed mullerian tumors can also be bilateral and seen among multiparas in the reproductive period as with this case report.

Hepatitis C virus syndrome: A constellation of organ- and non-organ specific autoimmune disorders, B-cell non-Hodgkin's lymphoma, and cancer.

The clinical course of chronic hepatitis C virus (HCV) infection is characterized by possible development of both liver and extrahepatic disorders. The tropism of HCV for the lymphoid tissue is responsible for several immune-mediated disorders; a poly-oligoclonal B-lymphocyte expansion, commonly observed in a high proportion of patients with HCV infection, are responsible for the production of different autoantibodies and immune-complexes, such as mixed cryoglobulins. These serological alterations may characterize a variety of autoimmune or neoplastic diseases. Cryoglobulinemic vasculitis due to small-vessel deposition of circulating mixed cryoglobulins is the prototype of HCV-driven immune-mediated and lymphoproliferative disorders; interestingly, in some cases the disease may evolve to frank malignant lymphoma. In addition, HCV shows an oncogenic potential as suggested by several clinico-epidemiological and laboratory studies; in addition to hepatocellular carcinoma that represents the most frequent HCV-related malignancy, a causative role of HCV has been largely demonstrated in a significant percentage of patients with isolated B-cells non-Hodgkin's lymphomas. The same virus may be also involved in the pathogenesis of papillary thyroid cancer, a rare neoplastic condition that may complicate HCV-related thyroid involvement. Patients with HCV infection are frequently asymptomatic or may develop only hepatic alteration, while a limited but clinically relevant number can develop one or more autoimmune and/or neoplastic disorders. Given the large variability of their prevalence among patients' populations from different countries, it is possible to hypothesize a potential role of other co-factors, i.e., genetic and/or environmental, in the pathogenesis of HCV-related extra-hepatic diseases.

An evidence-based medicine model for rare and often neglected neoplastic conditions.

The National Institutes of Health recommends strategies to obtain evidence for the treatment of rare conditions such as primary tumors of the spine (PTSs). These tumors have a low incidence and are pathologically heterogeneous, and treatment approaches are diverse. Appropriate evidence-based care is imperative. Failure to follow validated oncological principles may lead to unnecessary mortality and profound morbidity. This paper outlines a scientific model that provides significant evidence guiding the treatment of PTSs. A four-stage approach was used: 1) planning: data from large-volume centers were reviewed to provide insight; 2) recruitment: centers were enrolled and provided the necessary infrastructure; 3) retrospective stage: existing medical records were reviewed and completed with survival data; and 4) prospective stage: prospective data collection has been implemented. The AOSpine Knowledge Forum Tumor designed six modules: demographic, clinical, diagnostic, therapeutic, local recurrence, survival, and perioperative morbidity data fields and provided funding. It took 18 months to implement Stages 1-3, while Stage 4 is ongoing. A total of 1495 tumor cases were captured and diagnosed as one of 18 PTS histotypes. In addition, a PTS biobank network has been created to link clinical data with tumor pathology and molecular analysis. This scientific model has not only aggregated a large amount of PTS data, but has also established an international collaborative network of spine oncology centers. Access to large volumes of data will generate further research to guide and enhance PTS clinical management. This model could be applied to other rare neoplastic conditions. Clinical trial registration no.: NCT01643174 (ClinicalTrials.gov).

Eccrine angiomatous hamartoma: late onset facial presentation.

Eccrine angiomatous hamartoma (EAH) is a very rare benign neoplastic condition characterized by hamartomatous proliferation of eccrine glands and accompanying blood vessels and lymphatics. These lesions are more often present at birth or appear during early infancy and childhood and present as solitary nodule or plaque with occasional pain and sweating. They are generally present on the extremities, mostly the palms and soles. We report here a case of EAH in a 20-year-old female who presented with a solitary angiomatous plaque close to the lower eyelid of the right eye with occasional pain and sweating for its rarity.

Uterine Intravenous Leiomyomatosis with Right Ventricular Extension

Intravenous leiomyomatosis is a rare neoplastic condition characterized by the benign intravascular proliferation of smooth muscle cells originating from either the uterine venous wall or a uterine leiomyoma. In the present report, we describe the case of a 45-year-old woman without a history of gynaecological surgeries, who was referred to our institution due to repeated syncopal attacks. Computed tomography indicated the presence of an intravenous leiomyoma originating from the uterus and extending to the inferior vena cava, right atrium, and right ventricle. The patient was successfully treated by cardiotomy, which was performed under hypothermic circulatory arrest, and laparotomy in a single-stage operation. She continued to recover and did not exhibit any recurrence at the 10-month follow-up.

A Novel Scientific Model for Rare and Often Neglected Neoplastic Conditions

Study Type Retrospective cohort. Introduction The treatment of rare neoplastic conditions is challenging, especially because studies providing high levels of evidence are often lacking. Such is the case with primary tumors of the spine (PTS), which have a low incidence, are pathologically heterogeneous, and have diverse treatment approaches.1 Despite these difficulties, appropriate evidence-based care of these complex patients is imperative. Failure to follow validated oncologic principles may lead to unnecessary mortality and profound morbidity. Objective With the aim of offering patients the most appropriate treatment based on the best available evidence, a novel scientific model was developed and employed. This article outlines this model, which has not only provided significant evidence guiding treatment of this rare condition, but we believe is readily transferrable to other similarly rare conditions. Methods A four-stage approach was employed. (1) Planning: Data from large volume centers were reviewed together with results from a feasibility questionnaire to provide insight into epidemiology, patient volumes, tumor pathology, treatment modalities, and outcomes. (2) Recruitment: Centers with sufficient volume and valid data were enrolled and provided with the necessary infrastructure. This included study coordinators and a secure, Web-based database (REDCap, Vanderbilt University, Nashville, Tennessee, United States) to capture international data from six modules comprising: demographic, clinical, diagnostic, therapeutic, local recurrence, perioperative morbidity fields, and a cross-sectional survey to update survival information. The AOSpine Knowledge Forum Tumor designed these modules and provided funding. Each center received institutional ethics approval. (3) Retrospective stage: Prospectively collected data from all recruited centers were reviewed and analyzed retrospectively. (4) Prospective stage: Following interim analysis, prospective data collection has been implemented. In addition, a PTS bio-bank network has been created to link clinical data with tumor pathology and molecular analysis. Results It took 18 months to implement stages 1 to 3 of this model and stage 4 is ongoing. A total of 1,495 tumor cases were captured and diagnosed as one of the 18 primary spine tumor subtypes listed (Fig. 1). The most prevalent diagnosis was chordoma (n = 344, 23%). There were 674 females and 821 males with a mean age of 43 ± 19 years at the time of surgery. Surgical treatment was performed between 1981 and 2012. The survival at 5 and 10 years postsurgery was 71.9 and 53.3%, respectively, with a median survival of 13 years postsurgery (Fig. 2). Conclusions To date, this is the largest international collection of PTS. This novel scientific model has not only aggregated a large amount of PTS data, but has also established an international collaborative network of spine oncology centers. The access to large volumes of clinical and bio-bank data will generate further research to guide and enhance the clinical management of PTS. This novel scientific model could be of similar tremendous value if applied to other rare neoplastic conditions.

Simultaneous Diagnosis of Myeloid Sarcoma of the Jaw and <i>Mycobacterium tuberculosis</i> Infection

Granulocytic or myeloid sarcoma (MS) is a rare neoplastic condition consisting of a tumor mass of myeloid blasts with or without maturation occurring at an anatomical site other than the bone marrow the association between tuberculosis and MS is extremely rare. A 21-year-old female patient presented cough, sore throat and a suppurative swollen gum for 10 days prior to hospital admission. Physical examination revealed moderate pallor and swollen inferior gum. CBC revealed Hb6.5 g/dL, hematocrit 18.4% MCV 97 fL MCH 34 pg, WBC 18.5 ′ 109/μL (1 My/3 Bt/69 Sg/1 Eo/0 Ba/20 Ly/6 Mo), Platelets 43 ′ 109/μL. The peripheral blood smear presented with 3% blast cells (type 1) and granulocytic dysplasia. Bone marrow biopsy showed 100% cellularity. 50% of cells were from granulocytic precursors, diagnosis of granulocytic sarcoma. The diagnosis of AML was established: granulocytic sarcoma with massive gum infiltration (immature granulocytic cells) and 10% of blasts in bone marrow. The patient received induction chemotherapy (3 + 7 daunorubicin 90 mg/m2), and gum tissue culture was positive for Mycobacterium tuberculosis. Simultaneously, a qRT- PCR test confirmed the same bacteria in the gum tissue. Patient treated with isoniazid, rifampicin, pyrazinamide and ethambutol ciprofloxacin and amikacin). Remission was achieved and the patient was submitted for consolidation/ intensification (HiDAC x3) schema and referred to allogeneic HSCT. After induction and full hematological recovery there was no further evidence or recurrence of fever and lytic lesions. Currently patient is under CR and ling follow up (48 months) did not show recurrence of either AML or tuberculosis.

De Novo Myeloid Sarcoma of Small Intestine Presenting as Epigastric Pain

Purpose: Myeloid sarcoma (MS), chloroma or granulocytic sarcoma (GS) represents an extra medullary tumor of myeloblasts and/or immature myeloid cells. It is an uncommon manifestation of acute myeloid leukemia (AML) and less often, of chronic myeloid leukemia (CML), polycythemia Vera and primary myelofibrosis. Very rarely, these tumors can present de novo and when they do, often represents as a forerunner to the development of AML. Methods: 49-year-old non-smoker male with no prior medical history presented with post prandial epigastric pain since two weeks which was progressively worsening in severity. There was no associated nausea, vomiting, diarrhea, constipation. He denied weight loss, hematemsis or malena. Physical examination was unremarkable except for mild epigastric tenderness. Laboratory examination including a complete blood count, Erythrocyte sedimentation rate, liver and renal profile were normal. A computerized tomogram (CT) of the abdomen demonstrated concentric thickened distal part of duodenum with prominent mesenteric lymph nodes suggestive of a primary mesenteric or small bowel (SB) tumor versus lymphoma. Esophagogastroduodenoscopy showed erythematous and edematous areas in the third and fourth part of duodenum. Histological examination demonstrated diffuse infiltrates by uniformly blastoid appearing cells. A differential diagnosis of lymphoma and GS were considered. Immunohistochemical staining was consistent with myeloid sarcoma. Cytogenetic analysis was normal. A bone marrow biopsy was negative for AML, with no other metastasis noted on a staging work-up. The patient underwent intensive chemotherapy for AML with high-dose cytosine arabinoside and doxorubicin, which the patient has been tolerating well and following up with oncology. Results: See Methods for case. Conclusion: MS can develop in any anatomic site with a particular predilection for skin, bone, lymph nodes, soft tissue and genitourinary tract. Involvement of gastrointestinal tract (GI) is rare. It generally occurs in association with AML, as an initial presentation or a relapse. An isolated primary GS of small intestine in a non-leukemic patient is uncommon. De novo MS with GI involvement in aleukemic patient, can clinically, radiologically and histopathologically mimic other solid neoplasms, making it a diagnostic challenge. When the diagnosis of MS is made before the presentation of leukemia, the average time period to progression is 10 months. Clinicians need to be aware of this rare neoplastic condition and should have a high index of suspicion for progression to AML. Hence early recognition and prompt institution of therapy is crucial, and may delay its progression to a systemic disease.