Secondary amyloidosis with concomitant gastric GIST and gastric adenocarcinoma - A case report.

Secondary amyloidosis is a well-established entity and has been described in association with chronic inflammatory conditions such as rheumatoid arthritis, ankylosing spondylitis, bronchiectasis, tuberculosis, etc., It has also been reported in association with neoplasms such as Hodgkin's lymphoma, Waldenstrom's macroglobulinemia, renal cell carcinoma, lung carcinoma, etc. However, only a few case reports documenting the association of amyloidosis with gastrointestinal tumor (GIST) and gastric adenocarcinoma are available in the literature. Hereby, we report a case of a 74-year-old male who presented with colicky abdominal pain and vomiting. Ultrasonography revealed a common bile duct (CBD) stone and a small extra-luminal gastric mass. Endoscopic retrograde cholangiopancreatography (ERCP) was performed to remove the CBD stone which revealed an incidental finding of gastric ulcer. A biopsy was taken from the gastric ulcer which on histopathological examination was confirmed as adenocarcinoma leading onto total gastrectomy. During total gastrectomy, an inadvertent injury to the spleen led to simultaneous splenectomy. Multiple samples from the gastric ulcer, the extra-luminal gastric mass, and the spleen were subjected to histopathological examination. Gastric ulcer was confirmed as adenocarcinoma, gastric extra-luminal mass was confirmed as GIST, and splenic examination revealed widespread deposition of amyloid which on Congo-red stain imparted an apple-green birefringence on polarizing microscopy. To the best of our knowledge, this is the first-ever case of such an association where gastric adenocarcinoma occurred with concomitant gastric GIST and secondary amyloidosis of the spleen.

Intranasal glioma (Nasal heterotopia): A rare cause of nasal polyp in neonates.

A 3-month-old boy presented with an intranasal polypoidal mass protruding out of the nostril which was present since birth and growing slowly. The mass was non-pulsatile and soft to firm in consistency. It did not increase in size on coughing, crying, or compression of the jugular vein. Magnetic resonance imaging and contrast-enhanced computed tomography (CT) revealed a lobulated well-circumscribed soft tissue mass in the left nasal cavity with no intracranial communication. Complete surgical excision of the mass was carried out via an intranasal endoscopic approach. Histopathological examination confirmed the diagnosis of intranasal glioma.

Peritoneal malignant mesothelioma: Slippery like an eel to diagnose on cytology-case series of 3 cases.

INTRODUCTION: Peritoneal malignant mesothelioma is an extremely rare tumor and is a difficult diagnosis to be made on cytology alone. We report 3 cases where the cytologic features were misdiagnosed as carcinoma/lymphoma but histopathology and immunohistochemistry (IHC) established the diagnosis of malignant mesothelioma. CLINICAL DETAILS: Case 1 was a 60-year-old man with multiloculated ascites and omental caking. Peritoneal fluid was reported as malignant on cytology but was misclassified as adenocarcinoma. Case 2, a 45-year-old man with ascites and peritoneal nodularity, radiologically mimicking peritoneal carcinomatosis, was also reported positive for malignancy on ascitic fluid cytology. Fine-needle aspiration (FNAC) from omental fat revealed signet ring cells, thus misleading to cytologic diagnosis of adenocarcinoma. Case 3 was a 63-year-old man with perisplenic mass with extensive omental caking and peritoneal nodularity that was also suspected to be peritoneal carcinomatosis on radiology. FNAC smears from perisplenic mass showed sheets of plasmacytoid cells. On cytology, the differential diagnoses offered were neuroendocrine tumor or non-Hodgkin lymphoma. The diagnosis of malignant mesothelioma was established only after IHC on histopathologic sections in all these cases. None of our patients had history of prior asbestos exposure. CONCLUSION: In such clinical scenarios, with radiology suggesting peritoneal carcinomatosis, the cytologic features need corroboration by IHC/fluorescence in situ hybridization on cell block or biopsy to correctly identify malignant mesothelioma and differentiate it from metastatic carcinomatous deposits and benign mesothelial proliferation.

Clinical and Molecular Attributes of Patients With BCR/ABL1-negative Myeloproliferative Neoplasms in India: Real-world Data and Challenges.

INTRODUCTION: Classic BCR/ABL1-negative myeloproliferative neoplasms (MPNs) are characterized by clinical and genetic heterogeneity and include 4 distinct constituents. Very little data on clinical presentation and epidemiology of the same is available from the Indian setting. PATIENTS AND METHODS: Patients referred to Hematology-Oncology from January 2018 to August 2020 with suspected MPNs were included in the analysis and prospectively followed-up. All patients were initially screened, and only those meeting the updated World Health Organization 2016 criteria were included in the analysis. Epidemiologic, clinical, and molecular characteristics were documented, and patients were followed-up prospectively. RESULTS: A total of 233 patients were referred for evaluation of MPN, of which 63 were included in the analysis, including 39 males and 24 females. The median age at diagnosis was 57 years (range, 28-82 years), and 38% patients were younger than 50 years of age. The most common presentations were incidental detection in 35 (55.5%), abdominal symptoms in 13 (20%), fatiguability in 7 (11%), and recent vascular events in 6 (9.5%) patients. Final diagnosis was polycythemia vera in 27, essential thrombocytosis (ET) in 21, prefibrotic myelofibrosis in 9, and myelofibrosis in 6 patients. The frequency of driver mutations in polycythemia vera included JAK2 in 75%; in ET, JAK2 in 33%, CALR in 33%, and MPL in 4%; and in prefibrotic myelofibrosis, JAK2 in 66% and CALR in 33%. Aspirin was used for all patients along with risk-adapted cytoreduction with hydroxyurea. Ruxolitinib was reserved for symptoms refractory to hydroxyurea. After a median follow-up of 15 months (interquartile range, 10-28 months) from diagnosis, disease progression was noted in 4 patients. Two patients died at the end of the follow-up period, including 1 with secondary acute myeloid leukemia post myelofibrosis and one with ET and coexistent oral malignancy. The remaining 61 patients are alive and on regular treatment. RESULTS: This is one of the first systematic descriptions and prospective follow-up of patients with BCR/ABL-negative MPNs from India. Our study indicates a younger median age of presentation and higher proportion of JAK2-unmutated disease across all subtypes. The primary role of bone marrow morphology and supportive role of somatic mutations in differentiating MPN subtypes is indicated. CONCLUSIONS: This study sets the stage for a collaborative registry for defining epidemiologic data and long-term outcomes with MPN in India.

Primary Extranodal Non-Hodgkin Lymphomas: A First Tertiary Care Experience from Punjab, North India.

Background Primary extranodal lymphomas are less frequently encountered and difficult to diagnose in routine practice. The histopathological and immunohistochemical studies are essential in addition to clinical details to diagnose. The incidence is varied in different parts of India along with variation in histopathological spectrum. Methodology The clinical features and histopathological findings of patients diagnosed with primary extranodal lymphoma over 3-year period were retrieved from archives of pathology department and analyzed. Results During the 3-year study period, a total of 135 cases of non-Hodgkin lymphomas were evaluated, and of these, 41.4% (56/135) of cases presented with primary extranodal involvement. The mean age of primary extranodal lymphoma presentation was 61.3 ± 17.5 with M:F ratio of 1:1.1 Most common extranodal site involved was gastrointestinal tract 32.1%, 18/56 (small intestine [17.8%, 10 cases] and large intestine [8.9%, 5 cases]). Non-Hodgkin lymphomas of B cell type were the predominant subtype (48/56, 85.7%), while 8/56 (14.2%) cases were of T cell lineage. Of the B cell non-Hodgkin lymphoma diffuse, large B cell lymphoma was the predominant subtype constituting ~83.3% (40/48). Conclusion Primary extranodal lymphomas exhibit varied histomorphological and clinical presentation. The present study is first such analysis from Punjab that intends to compare with studies from other parts of India.

Pulmonary Hydatid Disease with Aspergillosis - An Unusual Association in an Immunocompetent Host.

Echinococcosis is a common cause of pulmonary cavities. Aspergillus fumigatus, a saprophytic fungus, can colonise pulmonary cavities caused by tuberculosis, sarcoidosis, echinococcosis, bronchiectasis and neoplasms. Infection by Aspergillus is often seen in immunosuppressed cases. However, co-infection of Aspergillus with pulmonary echinococcosis is unexpected and very unusual, especially in an immunocompetent patient. We present the case of a 45-year-old immunocompetent male who came with non-resolving pneumonia and fever for 8 months and dyspnoea since 15 days accompanied by recurrent episodes of hemoptysis since 5 days. Chest X Ray and Computed Tomography scan showed a cystic lesion in the middle lobe of the right lung. Middle lobectomy with video-assisted thoracoscopic surgery was performed and histopathology revealed ectocyst of Hydatid cyst which was also colonised by septate fungal hyphae exhibiting acute angled branching, morphologically consistent with Aspergillus. Gomori Methanamine Silver and Periodic Acid Schiff stains highlighted the hyphae of Aspergillus as well as the lamellated membranes of ectocyst and an occasional scolex of Echinococcus. Sections from surrounding lung parenchyma also showed these fungal hyphae within an occasional dilated bronchus. Thus a diagnosis of dual infection of Aspergillosis and Pulmonary Echinococcosis was established. The possibility of dual infection by a saprophytic fungus must be kept in mind while dealing with a case of a cavitary lesion in long-standing and non-resolving pneumonia, even in an immunocompetent patient. Establishing the correct diagnosis of Aspergillosis with Echinococcosis is essential for proper and complete management.

Beware of Bone Marrow: Incidental Detection and Primary Diagnosis of Solid Tumours in Bone Marrow Aspiration and Biopsies; A Study of 22 Cases.

BACKGROUND & OBJECTIVE: Introduction: First detection of any solid tumour as metastatic deposits in bone marrow directs clinicians to start searching for the primary tumour. Detection of bone marrow metastasis determines the stage of the malignancy, prognosis, mode of treatment, chemotherapeutic response and follow-up in case of relapse. The aim of the current study was to analyse the clinico-haematological presentation and morphological pattern of infiltration of solid tumours detected first as metastatic deposits on bone marrow examination. METHODS: Three-year retrospective analysis of MGG-stained bone marrow aspiration smears and touch imprints of the bone marrow biopsy and Hematoxylin and Eosin (H&E) stained histopathological sections of biopsies was performed at the Department of Pathology at a tertiary care institute (January 2014 to December 2016). The morphological pattern of metastatic deposits and haematological profiles of the patients were analysed. Exclusion criterion was the presence of hematolymphoid malignancies. RESULTS: In 22 cases, bone marrow was the first site of detection of metastasis. The age of the patients ranged from 3 years and 10 months to 82 years, with equal gender predilection. Overall, 16 cases had cytopenias, 9 cases each had leucocytosis and leukoerythroblastic presentation. The metastasis was from Ewing's sarcoma, prostate carcinoma, gastric adenocarcinoma invasive duct carcinoma breast, gallbladder carcinoma, lacrimal duct carcinoma and invasive papillary urothelial carcinoma. CONCLUSIONS: Bone marrow examination is a cheap and reliable investigation to detect metastasis in an unsuspecting case. Bilateral trephine biopsies are recommended to increase the efficacy of detecting bone marrow metastasis.

Entamoeba histolytica: A surprising coexistence with adenocarcinoma - Never brush aside brushings for biopsy.

Entamoeba histolytica has been rarely reported as superadded infection over carcinomatous growth on rectal brushings. We present a case of 68-year-old male who presented with abdominal pain and bleeding per rectum who was found to have an ulceroproliferative growth on sigmoidoscopy. Rectal brushings revealed coexistence of E. histolytica with malignant cells of adenocarcinoma. No organism was detected on biopsy of the tumor, which also showed adenocarcinoma, because of possible surface colonization of the tumor by Entamoeba. This case highlights the role of rectal brushings in detecting superadded infection in a case where both brushings and biopsy were performed. It is always important to report infection superadded on malignancies for optimum management of the patients.

Association of endoscopic and histological remission with clinical course in patients of ulcerative colitis.

BACKGROUND/AIMS: The therapeutic goal for treating ulcerative colitis (UC) patients has shifted to achieving mucosal healing over the past few years. However, at present, limited data is available on the correlation between endoscopic findings and histological remission in patients with endoscopic mucosal healing. METHODS: This was a prospective observational study conducted over a period of 18 months (January 2014 to June 2015) at Dayanand Medical College and Hospital, Ludhiana, Punjab, India. Patients diagnosed with UC who had been in clinical remission (n=76) for at least 6 months were evaluated for endoscopic remission. Those in endoscopic remission (Mayo score ≤1; 46/76, 60.5%) were subjected to multiple biopsies from the rectosigmoid region and histological remission, which was then defined as grade 0/1 as per the Geboes criteria. RESULTS: Of the 46 patients in endoscopic remission (age, 18-73 years; male:female=1.5:1.0), majority had E1 (proctitis) disease (21/46, 45.6%) followed by E2 (left sided colitis) (18/46, 39.1%) and E3 disease (pancolitis) (7/46, 15.2%) at baseline. Histological remission was noted in 67.3% (31/46) of the patients, while 32.7% (15/46) still retained the histologically active disease in the form of infiltration of the lamina propria by eosinophils and neutrophils (13/15, 86.6%), cryptitis (14/15, 93.3%), and crypt abscesses (8/15, 53.3%). On follow-up, after 1 year, 87.1% (27/31) of the patients who had been in histological remission remained clinically asymptomatic, while 12.9% (4/31) had relapsed. Among the 15 histologically active patients, 46.6% (7/15) remained in clinical remission, while 53.3% (8/15) had relapsed. CONCLUSIONS: Histological remission, rather than endoscopic remission, predicts a sustained clinical remission and allows monitoring of therapy for the subsequent disease course in patients with UC.

Xanthogranulomatous Oophoritis: A Rare Case Report.

Xanthogranulomatous oophoritis is an uncommon, non-neoplastic, chronic process in which the affected organ is destroyed by massive cellular infiltration of foamy histiocytes admixed with multinucleated giant cells, plasma cells, fibroblasts, neutrophils, and foci of necrosis. The etiology of this entity is unknown, but it shares histopathological findings similar to those of xanthogranulomatous change occurring in various organs, including the gallbladder and kidney. The current case was a 20-year-old female presenting with a tubo-ovarian mass with suspicion of malignancy on clinicoradiological findings and final diagnosis of xanthogranulomatous oophritis established on histopathology. Clinically and radiologically, xanthogranulomatous oophritis mimics tumor of the ovary and fallopian tube, thereby making it an important entity. A vigilant histopathological evaluation is important to diagnose the disease.

Acquired aplastic anemia associated with trisomy eight converting into acute myeloid leukemia.

Aplastic anemia (AA) is nowadays considered to be a clonal disorder arising from a defective hematopoietic stem cell developing after a generalized insult to bone marrow. Immunosuppressive treatment (IST) of AA causes suppression of the target dominant population of haematopoietic cells allowing the defective non targeted clones to expand. This may give rise to acute leukemia. Cytogenetic studies for chromosomal aberrations such as trisomy and monosomy may help in detecting such conversions. We present a case of acquired AA in a 60-year-old male presenting with pancytopenia and hypoplastic marrow treated with antithymocyte globulin, converting into myelodysplastic syndrome and later on acute promyelocytic leukemia after being in remission for 4 years. The patient was found to have trisomy 8 on fluorescence in situ hybridization and karyotyping.

Lethal Congenital Malformations in Fetuses-Antenatal Ultrasound or Perinatal Autopsy.

BACKGROUND: Congenital malformations (CMF) are major causes of fetal demise which can be detected antenatally by Ultrasonography (USG). METHODS: We studied 100 perinatal autopsies for CMF. Sensitivity of USG was determined and accuracy of USG with that of autopsy was compared. RESULTS: At Autopsy 134 individual CMF were seen in 40 cases. The sensitivity of USG in detecting major CMF was 54.47%. A complete agreement between autopsy and USG findings was seen in 13/40 (32.5%) and partial agreement in 17/40 (42.5%) fetuses while autopsy completely changed antenatal diagnosis in 10/40 (25%) fetuses. Major findings were added in all 17 fetuses with partial agreement. In 2 cases, CMF suspected on USG were not detected on autopsy due to fetal maceration. CONCLUSION: Autopsy significantly adds to the prenatal USG diagnosis and may help in predicting the probability of recurrence, and thus counseling the affected couple to prevent any such future event.

Histopathological Spectrum of Soft-Tissue Tumors with Immunohistochemistry Correlation and FNCLCC grading: A North Indian Experience.

INTRODUCTION: Soft tissue tumors (STT) are mesenchymal neoplasms with a diverse spectrum and overlapping clinical, radiological and histological features. Histopathology and immunohistochemistry (IHC) are essential to make a diagnosis. Fédération Nationale des Centres de Lutte Contre le Cancer (FNCLCC) Sarcoma Group grading system based on tumour differentiation, mitotic rate and necrosis helps in predicting the tumour progression and treatment response. AIMS: The goal of this study was to analyze the incidence, histological spectrum and IHC features of STTs and to grade sarcomas according to FNCLCC grading system. MATERIAL AND METHODS: This is a four year study conducted in the Department of Pathology of a tertiary care centre from July 2009 to June 2013. All histopathologically diagnosed STTs were evaluated for gross and microscopic appearance. IHC was done wherever needed and clinical correlation was attempted. Sarcomas were graded according to FNCLCC grading system. RESULTS: Of the total 270 cases studied, benign, intermediate and malignant STTs were 67.0%, 7.0% and 25.9% respectively. Adipocytic, vascular and peripheral nerve sheath tumors (PNST) formed the bulk of overall STTs (34.1%, 18.5% and 11.1% respectively). Sarcomas not otherwise specified were found to be the most common soft-tissue sarcomas followed by smooth muscle sarcomas and tumors with uncertain differentiation (11.5%, 4.1%, and 3.3%, respectively). Benign STTs were seen two decades earlier and were superficial in location as compared to sarcomas. On FNCLCC grading, grade 3 soft tissue sarcomas were slightly higher in number than grade 2 (27 vs 24). On IHC a definitive diagnosis was reached in 33 malignant, all intermediate and nine benign cases. CONCLUSION: The incidence of intermediate and malignant STTs is increasing due to early detection and better diagnosis by ancillary techniques like IHC. FNCLCC grading helps to prognosticate the malignant STTs thus guiding further plan of action while in some tumors like MPNST and Angiosarcoma it has no prognostic significance.

Nodular Cystic Basal Cell Carcinoma of the Trunk: a Diagnostic Dilemma in an Unsuspecting Youth.

Basal cell carcinoma (BCC) commonly affects the elderly and is mostly confined to the head and neck region. Only 10% of all cases occur on the trunk. We presented a case of bullous lesion on the abdomen in a young male, initially diagnosed by clinicians as a vascular nevus. Histopathological examination and immunohistochemistry (IHC) revealed it to be Nodular cystic variant of BCC. This rare variant of BCC morphologically resembles benign skin adnexal tumor of Eccrine syringofibroadenoma. Ber Ep4 positivity on IHC established the correct diagnosis. This case highlights that nodular cystic variant of BCC can be a diagnostic dilemma for clinicians and pathologists.

Splenic Epidermoid Cyst in a Five-Year-Old Child.

Splenic epidermoid cysts are rare non-parasitic true cysts affecting the spleen. We report a five-year-old child who presented with an abdominal lump associated with pain of 15 days. Ultrasonography of the abdomen showed a huge cystic lesion of obscure origin. At laprotomy a huge unilocular cyst involving upper part of spleen containing pultaceous fluid was seen and its removal necessitated splenectomy. Histopathological findings were consistent with splenic epidermoid cyst. Thus histopathology helped in elucidating the aetiology and diagnosis.