An Intriguing Case of Amyloidosis Leading to PAGE Kidney in a Post Renal Transplant Recipient: A Case Report.

Amyloidosis is an infiltrative disease where amyloid fibrils get deposited in the organs like kidney, liver and spleen. Amyloid deposition in the kidneys classically meant deposition in the glomeruli and mesangium until 2008 when interstitial amyloid deposits were isolated and named as` Leukocyte cell-derived chemotaxin 2-associated amyloidosis. It is a progressive disease which clinically manifests as slowly progressive renal dysfunction and/or proteinuria. Our case 34 year old renal transplant recipient underwent graft biopsy post transplantation which revealed interstitial LECT-2 amyloid deposits. Unfortunately, he developed page kidney post biopsy which was managed conservatively with percutaneous drainage. Supplementary Information: The online version contains supplementary material available at 10.1007/s12291-022-01072-6.

Solitary fibrous tumor of the ovary.

Solitary fibrous tumors commonly occur in the pleura and are rare elsewhere, especially in the female genital system. We present a case of a solitary fibrous tumor arising from the ovary in a young female in the reproductive age group. The tumor could be excised laparoscopically. We also describe the histopathological and immunohistochemical features that can help establish its diagnosis.

A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy.

The intrinsic similarity shared between the members of the complement factor H family, which comprises complement factor H and five complement factor H-related (CFHR) genes, leads to various recombination events. In turn these events lead to deletions of some genes or abnormal proteins, which are found in patients with atypical hemolytic uremic syndrome or C3 glomerulopathies. Here we describe a novel genetic rearrangement generated from a heterozygous deletion spanning 146 Kbp involving multiple CFHR genes leading to a CFHR1-R5 hybrid protein. This deletion was found in four family members presenting with a familial dominant glomerulopathy histologically classified as an overlap of dense deposit disease and C3 glomerulonephritis. Affected patients exhibited permanently low C3 and factor B levels and high amounts of activation fragments sC5b9 and Bb, indicating a systemic alternative pathway dysregulation. The abnormal protein, characterized by Western blot and immunoprecipitation, was shown to circulate in association with CFHR1 and CFHR2, attributable to its two N-terminal dimerization motifs. The presence of this protein is associated with a perturbation of Factor H activity on the C3 convertase decay. Thus, our study highlights the role of CFHRs in the physiopathology of C3 glomerulopathies and stresses the importance of screening CFHRs in all familial C3 glomerulopathies. Such hybrids described till now were always associated with familial forms.

An analysis of transplant glomerulopathy and thrombotic microangiopathy in kidney transplant biopsies.

Glomerular diseases of the transplanted kidney are the most important cause of poor long- term outcome. The estimation of the magnitude of this problem and an elucidation of pathogenic mechanism is essential for improvement of graft survival. This study from the Indian subcontinent aims (i) to determine the incidence of transplant glomerulopathy (TG) and thrombotic microangiopathy (TMA) in a large cohort of indicated renal transplant biopsies, (ii) to evaluate the histological and ultrastructural features of TG and TMA, and (iii) to assess the relationship between the two glomerular lesions. Of a total of 1792 indication renal transplant biopsies received over 5 years (2006-2010), 266 biopsies (of 249 patients) had significant glomerular pathology and were further analyzed along with immunofluorescence, electron microscopy (EM), and C4d immunohistochemistry. TG is the most common glomerular lesion followed by TMA seen in 5.97% and 5.08% of allograft biopsies, respectively, which constitutes 40.23% and 34.2% of biopsies with significant glomerular lesions. Pathologic antibody-mediated rejection (AMR) is associated with both TG and TMA in 71% and 46.5%, respectively. A coexistent TG was found in 18.4% of biopsies with TMA. Endothelial swelling with subendothelial widening, a feature of TMA, is also seen in early TG by EM. Our findings support the concept that TG evolves from a smoldering TMA of various causes.

Adenosquamous carcinoma lung radiologically mimicking pneumonia: A potentially disastrous diagnostic challenge in an unusual malignancy.

Lung cancer is among the most frequently diagnosed cancers and the world's leading cause of cancer-related death. Radiology remains the mainstay for timely diagnosis; however, atypical radiologic patterns are known, and these may be misdiagnosed as infectious or inflammatory pathology, particularly in the absence of smoking history. We report herein an account of an older male nonsmoker who presented radiologically with bilateral diffuse pulmonary infiltrates, simulating pneumonia, but was eventually diagnosed with adenosquamous lung carcinoma. The delay in diagnosis and subsequent unfortunate rapid deterioration of our patient serves as a reminder for clinicians to consider lung cancer in patients with clinical/radiologic findings suggestive of pneumonia, especially in nonsmokers or cases refractory to antibiotic therapy.

Primary neurolymphomatosis presenting as foot drop: A rare case report.

ABSTRACT: Neurolymphomatosis (NL) is the direct infiltration of the peripheral nervous system (PNS) by lymphoma cells and represents the least common form of PNS involvement by lymphoma. Clinical presentation is varied, and early diagnosis remains challenging. Nerve biopsy remains the diagnostic gold standard, use of magnetic resonance imaging (MRI) and fluorodeoxyglucose-positron emission tomography (FDG-PET) may help in diagnosis and selecting targets for biopsy. We report an account of an older male patient who presented with subacute onset multifocal neuropathy involving bilateral lower limbs and left foot drop. The patient was initially misdiagnosed as chronic inflammatory demyelinating polyneuropathy; however radiological assessment revealed fusiform thickening of the L5 nerve root and biopsy from the site revealed extensive infiltration by diffuse large B cell type non-Hodgkin lymphoma (NHL). High index of suspicion is vital to ensure correct diagnosis, timely treatment, and to improve patient survival.

Radiation Induced Liver Injury: Collateral Damage Radiologically Simulating Interval Metastasis in Carcinoma Esophagus; a Diagnostic Dilemma Resolved Through Liver Biopsy.

F-18-fluorodeoxyglucose positron emission tomography (18-FDG PET/CT) is increasingly being used in patients with cancer, both for baseline staging and for evaluation of treatment response. However, in patients with incidental irradiation of the liver during radiotherapy, particularly for lower gastrointestinal tract cancers, increased focal F-18-fluorodeoxyglucose positron emission tomography avidity may be the result of collateral radiation induced liver damage rather than metastases. Awareness of this pathologic entity and correlation with with other imaging, clinical and laboratory findings including liver biopsy is vital to avoid misinterpretation and overstaging of the carcinoma in these patients. We encountered such a scenario in an elderly female patient with distal esophageal squamous cell carcinoma patient, who developed F-18-fluorodeoxyglucose positron emission tomography avid left lobe liver lesion post neoadjuvant radiotherapy, simulating interval metastasis. A liver biopsy ruled out malignancy and helped to clinch the correct diagnosis of radiation induced liver injury.

Diagnostic Dilemma: Cardiorenal Syndrome As an Unusual Presentation of IgG4-Related Disease.

IgG4-related kidney disease (IgG4 RKD) is a rare clinical entity characterized by lymphoplasmacytic infiltration rich in IgG4-positive plasma cells along with fibrosis affecting several organs. Tubulointerstitial nephritis is commonly the predominant finding on kidney biopsy. Our patient was admitted with a provisional diagnosis of cardiorenal syndrome of unknown etiology. The patient was dialysis dependent for around 45 days following which kidney biopsy revealed features of acute tubulointerstitial nephritis (ATIN) with IgG4-positive plasma cells and no glomerular involvement. Positron emission tomography-computed tomography was supportive of findings of sialadenitis along with myocarditis. Our patient responded to treatment with steroids with definitive improvement in both renal and cardiac functions. This case highlights the importance of IgG4 RKD as an important differential in patients with ATIN presenting as a clinical syndrome.

Hodgkin Variant of Richter's Transformation in Chronic Lymphocytic Leukemia (CLL): An Illustrative Case Report and Literature Review.

Hodgkin lymphoma variant of Richter's transformation (HL-RT) is a rare event, occurring in < 1% chronic lymphocytic leukemia (CLL) cases, of which, in < 10% cases, HL is the first finding leading to a diagnosis of CLL that co-exists simultaneously. Here we report a 60 years old male patient who presented with an outside diagnosis of lymphocyte-rich classical HL. On evaluation, he had only B-symptoms in the form of low-grade fever and weight loss. Peripheral smear revealed mild leukocytosis with an absolute lymphocytosis and a few smudge cells. Bone marrow (BM) aspirate and biopsy exhibited diffuse infiltration by a small cell, low grade, Non-Hodgkin's lymphoma with no immunohistochemical evidence of HL. Flow cytometry performed on BM was consistent with classical immunoprofile of CLL. Meanwhile the lymph node received for review revealed diffuse effacement of nodal architecture by small mature lymphocytes with immunoprofile of CLL expressing CD20, CD5, and CD23. Interspersed between these cells, were a few eosinophils along with classical Reed Sternberg cells, expressing CD30, MUM-1, CD15, and dim PAX-5, with a surrounding rosette of T-Cells highlighted by CD3 and PD-1 and negative for CD45, CD20, and EBV immunohistochemistry. Fluorodeoxyglucose positron emission tomography (FDG-PET) scan revealed hepatosplenomegaly with multiple supra/infra diaphragmatic lymph nodes. So, a final diagnosis of HL-RT in CLL was considered. The patient is currently doing well after the first cycle of ABVD chemotherapy. HL-RT occurring in CLL is a rare event with heterogeneous clinical presentation, morphology, clonal origin, disease course, prognostic features, and survival.

Fine needle aspiration cytologic features of Cherubism: a case report.

BACKGROUND: Cherubism is characterized by hereditary and intraosseous fibrous swellings of the jaws. It presents with bilateral mandibular and maxillary involvement in young individuals. Fine needle aspiration cytologic (FNAC) features have rarely been described in the literature; they include smears showing moderate cellularity with spindle cells mixed with multinucleated giant cells of osteoclast type. Therefore, giant cell containing soft tissue and bone lesions are considered in the differential diagnosis. CASE: A 13-year-old girl presented with bilateral symmetrical mandibular enlargement and was diagnosed as having cherubism on FNAC. CONCLUSION: We describe the cytomorphologic features of cherubism along with its differential diagnosis on cytology and emphasize that with clinicoradiologic correlation, a specific diagnosis can be offered for a definitive therapeutic approach.

Spleen metastasis from hepatocellular carcinoma: report of a case with diagnosis by fine needle aspiration cytology.

BACKGROUND: Metastasis of hepatocellular carcinoma (HCC) to various organs is frequently seen. The lungs, regional lymph nodes, kidney, bone marrow and adrenals are relatively common sites of metastasis. Spleen metastasis from HCC is unusual, and only a few cases have been retorted; none have been diagnosed by fine needle aspiration cytology (FNAC). CASE: A 54-year-old male visited our institute with chief complaints of abdominal pain and mild ascites. Multifocal HCC and an isolated splenic mass lesion were detected on abdominal ultrasound and computed tomography. FNAC was performed under ultrasound guidance from the liver and spleen mass lesions. Cytologic examination of the aspirates showed classical features of hepatocellular carcinoma and similar tumor cells with hepatocytic differentiation in the spleen. Immunocytochemistry for hepatocyte paraffin-1 confirmed the splenic metastasis of HCC. CONCLUSION: Splenic metastasis from HCC diagnosed by FNAC is an exceptional situation; herein we confirm the rarity of this pathology and the efficacy of FNAC as a safe and valuable diagnostic tool for evaluating splenic lesions in oncologic patients.

Rare, Yet Emerging Cause of Graft Dysfunction-ALECT 2 Amyloidosis.

Amyloidosis is characterized by pathological deposition of abnormal protein aggregates in various tissues, AL protein being the commonest. Amyloidosis derived from leukocyte cell-derived chemotaxin 2 (LECT2) is a recently recognized form of amyloidosis in the United States with predominant involvement of kidney and liver. We present a case of ALECT2 renal amyloid in a transplant recipient who presented with gradual worsening of graft function and subnephrotic proteinuria. To our knowledge, this is first case of LECT2 amyloidosis from Northern India in a transplant recipient. There is no effective therapy for amyloidosis derived from leukocyte cell-derived chemotaxin 2.

Cutaneous Rosai-Dorfman disease: presenting as massive bilateral eyelid swelling.

Rosai-Dorfman disease is a rare, benign histiocytic proliferative disorder, which commonly affects the lymph nodes. Cutaneous Rosai-Dorfman disease is a rare form of Rosai-Dorfman disease limited to the skin. We report a case of cutaneous Rosai-Dorfman presenting with bilateral eyelid swelling in a child.