Kanwardeep Singh Kwatra

Malignant peripheral nerve sheath tumor of the anterior mediastinum: a rare presentation

Malignant peripheral nerve sheath tumor (MPNST) is a rare tumor that accounts for 5% of all thoracic neoplasm usually located in the posterior mediastinum and is generally associated with a poor outcome. We present a case of MPNST of the anterior mediastinum presenting in a rare location leading to diagnostic dilemmas and treated primarily by surgical resection.

Large mid-esophageal granular cell tumor: benign versus malignant

Granular cell tumors are rare soft tissue neoplasms, among which only 2% are malignant, arising from nervous tissue. Here we present a case of a large esophageal granular cell tumor with benign histopathological features which metastasized to the liver, but showing on positron emission tomography-computerized tomography standardized uptake value suggestive of a benign lesion.

Metastatic squamous cell carcinoma of the lung masquerading as a soft tissue tumor

Carcinoma of lung can metastasize to any organ system; however, metastasis to skeletal muscles is extremely rare. A 63-year-old man, known case of pulmonary tuberculosis on treatment, presented with a painful swelling in his left leg. Examination revealed a 5.0 cm × 3.0 cm calf swelling, which on imaging was suggestive of a soft tissue tumor. Fine-needle aspiration cytology of the swelling revealed it to be squamous cell carcinoma. Further investigations revealed a mass in the left lower lobe of the lung. Biopsies from both the lung lesion and calf swelling confirmed the diagnosis of squamous cell carcinoma of lung with metastasis to the calf muscle. The case is being presented because of its unusual presentation and rarity.

Inflammatory myofibroblastic tumour of sigmoid mesocolon in a child.

A 2-year-old female presented with a fever for 3 months and nonbilious vomiting for 2 days. A well-defined, smooth, mobile, firm abdominal mass in the left lower quadrant, measuring 6 cm × 5 cm, was palpated. Biochemical markers were normal. A computed tomography (CT) scan showed a large, well-defined, enhancing soft tissue intra-peritoneal mass lesion in the left lower abdomen, measuring 6.8 cm × 5.8 cm × 3.8 cm with central necrosis (Fig. 1). An ultrasound-guided core-needle biopsy of the mass showed tumour cells, with oval to elongated mildly pleomorphic nuclei with moderate hyperchromasia and small nucleoli. The cytoplasm was moderate, amphophilic and tapered. In some areas, the cell outlines were ill defined, with variable number of inflammatory cells. Vimentin, cytokeratin (CK), smooth muscle antigen (SMA) and anaplastic lymphoma kinase-1 (ALK-1) were positive. A hard mass arising from the sigmoid mesocolon, adherent to the omentum, the dome of the urinary bladder and the sigmoid colon, was excised completely along with the involved part of the sigmoid colon. Gross examination of the specimen measured 8 cm × 6 cm × 4.5 cm in the sigmoid mesentery and had a grey-white trabeculated cut surface (Fig. 2). The tumour had plumpto spindle-shaped cells in short fascicles arranged haphazardly, with a variable amount of intercellular collagen. Prominent scattered inflammatory infiltrate, comprising of lymphocytes, plasma cells and eosinophils, was present. There was no cellular atypia or increased mitosis. Immunohistochemistry showed diffuse positivity for ALK-1, SMA and CK. Desmin was focally positive. β Catenin, h-caldesmon, S-100, CD99, Myf-4 and CD117 were negative. Ki-67 proliferative fraction was 5–10% (Fig. 3). The findings suggested an inflammatory myofibroblastic tumour (IMT). The World Health Organization defines IMT as a distinctive lesion composed of myofibroblastic spindle cells accompanied by an inflammatory infiltrate of plasma cells, lymphocytes and eosinophils. It occurs primarily in soft tissue and viscera of children and young adults. While seen most commonly in the lungs of young adults it has been reported in the gastrointestinal tract. Differentiation of IMT from other neoplasms of gastrointestinal tract cannot be performed on clinical findings alone. While abdominal mass, fever, weight loss and pain are frequent complaints, a clinical syndrome occurs, with fever, growth failure, malaise, weight loss, anaemia, thrombocytosis, polyclonal hyperglobulinemia and elevated erythrocyte sedimentation rate. On an abdominal CT scan after contrast enhancement, a welldefined mass with moderate or marked homogeneous or heterogeneous enhancement is seen in the tumour. Non-enhancement, calcification and fatty components have been described. Recognition of this rare entity is important because the clinical manifestations and radiological features may be indistinguishable from a malignant lymphoproliferative disorder. In the abdomen and retroperitoneum, IMTs can often appear diffuse and infiltrative, making the initial diagnosis difficult. An IMT is described as a circumscribed or multi-nodular firm, white or tan mass with a whorled fleshy or myxoid cut surface. Focal haemorrhage, necrosis and calcification are less common. The mean diameter of extra pulmonary IMT is 6 cm (range: 1–17 cm). A zonal appearance with a central scar and softer red or pink periphery may be seen. Multi-nodular tumours are usually restricted to the same anatomic region and may be contiguous or separate. Strong diffuse cytoplasmic reactivity for vimentin is typical. Reactivity for smooth muscle actin and muscle-specific actin varies from a focal to a diffuse pattern, and desmin is identified in many cases. Focal cytokeratin immunoreactivity is seen in about one-third of cases. Myogenin, myoglobin and S100 protein are usually negative. Immunohistochemical positivity for ALK is detectable in Fig. 1. Contrast computed tomography scan of abdomen showing a large, well-defined, enhancing soft tissue intra-peritoneal mass lesion in the left lower abdomen (grey arrows) with central necrosis.

Atypical fulminant presentation of amebiasis in chronic kidney disease patient on maintenance hemodialysis

Amebiasis is a common cause of dysentery in India and can have an atypical fulminant course with negative serological tests in immunosuppressed individuals such as chronic kidney disease (CKD). We present a patient of CKD on dialysis who presented with features of dysentery with negative blood and serology workup. The diagnosis of amebic colitis was made after colonoscopy and histopathology which revealed amebic trophozoites and her symptoms abated after appropriate therapy. This case report illustrates the need for colonoscopy and histopathology for definite diagnosis of fulminant presentation of amebic colitis in an immunosuppressed individual such as CKD.

A case of secondary syphilis with HIV, resembling borderline lepromatous leprosy.

We are reporting an unusual case of secondary syphilis, in a homosexual male patient, which resembled borderline lepromatous leprosy, and in whom the diagnosis was considered on clinical grounds. The patient also had concomitant HIV infection, with asymptomatic neurosyphilis. His rapid plasma reagin test was reactive in 1:128 dilution. He improved with three standard, weekly injections of benzathine penicillin, along with 2 g of intravenous ceftriaxone daily for 15 days. This case is being reported to highlight the need for a high index of suspicion in diagnosing unusual cases of secondary syphilis, especially in those with concomitant HIV infection.

Mullerian choristoma in a case of spinal dysraphism.

It is extremely rare to find mullerian choristomas in association with spinal dysraphism, with <10 cases published in English literature. We report a case of heterotopic uterus and fallopian tube-like tissue within a lumbar subcutaneous lipoma associated with spina bifida and tethered cord. A 21-year-old lady presented with lumbar swelling since birth and dull pain in the lower back. Magnetic resonance imaging showed spina bifida at level L3 and L4, tethering of the cord and a subcutaneous lipomatous swelling. Biopsy revealed lobules of fibroadipose tissue embedded in which were seen organoid cystic structures containing prominent smooth muscle coats in their wall. These cystic structures were lined by the endometrium and showed fallopian tube-like papillary infoldings. Immunohistochemistry showed estrogen receptor positivity in the epithelium, stroma, and smooth muscles. The epithelial cells were also positive for cancer antigen 125 and cytokeratin 7 while the stromal cells showed CD10 positivity, supporting mullerian derivation. The pathogenesis and differential diagnosis of such lesions is discussed.

Progressive nodular histiocytosis associated with eale's disease

Progressive nodular histiocytosis (PNH) is a rare normolipemic macrophage disorder and belongs to a subgroup of non-Langerhans cell histiocytosis (LCHs) which is characterized by a progressive course with no sign of spontaneous resolution but without systemic involvement. We report a 30-year-old gentleman who presented with skin lesions all over the body associated with gradual bilateral painless loss of vision. On examination, approximately 30 to 40, skin-colored, firm, non-tender papules and nodules were noted over the body especially on the face and trunk. A skin biopsy revealed a cellular tumor in the dermis composed of oval to spindle-shaped cells, positive for CD68 but negative for S-100, CD34, CD21, CD35 and HMB45, supporting a diagnosis of spindle cell histiocytic tumor. Ophthalmic examination revealed a generalized arteriolar attenuation in both eyes. He received Tab Imatinib 400 mg OD for 5 months followed by Tab Pazopanib 800 mg OD for 4 months and both the drugs were stopped due to lack of any response in the skin lesions. We report this case due to its rarity, characteristic clinical presentation, and its association with Eales disease. Primary treatment remains surgical excision of bothersome lesions and optimal systemic treatment is still unknown.

Bilateral Parotid MALToma: a sure shot for radiation.

TO THE EDITOR: The concept of mucosa-associated lymphoid tissue (MALT) lymphoma was first proposed by Isaacson and Wright in 1983 and is now recognized as a distinct clinical-pathologic disease entity [1]. Between 60% and 70% of patients with MALT lymphomas present with localized (stage I or II) disease involving a non-lymphatic organ. MALT lymphoma arising from the salivary glands is rare; data in the literature are scarce, limited to small series and isolated case reports. Therefore, the characteristics and clinical outcome of this unusual presentation are largely unknown. Extranodal marginal zone lymphoma has a slight female preponderance and usually presents at a localized stage with a low incidence of widespread dissemination, thus requiring local treatment, such as radiation therapy (RT), rather than systemic therapy [2]. In the present case report, we describe a case of MALT lymphoma involving both salivary glands presenting with Sjogrens syndrome and renal tubular acidosis. A 42-year-old woman diagnosed with renal tubular acidosis type II, secondary to Fanconis syndrome, presented with swelling in the left cheek that was not tender but was progressively increasing in size (Fig. 1). Physical examination revealed palpable bilateral swelling in the region of the angle of the mandible measuring 5×5 cm on the left side and 3×3 cm on the right side. The swelling was firm and fixed to the underlying structures. There were no palpable cervical lymph nodes or any other swelling. Ultrasonography revealed a bulky heterogeneous lesion in the left parotid gland measuring approximately 10 mL, suggesting parotitis or a parotid gland abscess. She was given a course of antibiotics for a week but the swelling did not resolve after the treatment. Fine needle aspiration cytology (FNAC) of the swelling showed numerous small-sized lymphoid cells in varying stages of maturation along with histiocytes, indicating a parotid lymph node. Fig. 1 (A) Left parotid swelling measuring 5.8×4.2×4 cm at initial diagnosis. (B) Complete clinical response after radiotherapy. Contrast enhanced magnetic resonance imaging (MRI) of the face and neck revealed complete replacement of the entire left parotid parenchyma by a large, solid lesion involving both the superficial and deep lobes measuring 5.8×4.2×4.0 cm (Fig. 2). A similar lesion was visualized in the right parotid gland measuring 3×2×2 cm with enlarged cervical lymph nodes, which suggested the diagnosis of lymphoma or Warthins tumor. Fig. 2 Contrast enhanced T1- weighted axial and coronal magnetic resonance imaging showing a 5.8×4.2×4 cm lesion replacing the left parotid gland and a 3×2×2 cm lesion in the right parotid gland (A, C). T2-weighted axial and coronal ... A trucut biopsy of the left parotid gland swelling was performed, which revealed a moderate amount of sheets of monotonous lymphoid cells with round irregular nuclei, coarsely clumped chromatin and inconspicuous nuclei with eosinophilic cytoplasm with occasional mitotic figures, resembling monocytoid B cells. Immunohistochemically, the cells were positive for CD20 and Bcl-2, weakly positive for Bcl-6 with a Ki-67 proliferative index of 35%, suggestive of MALT lymphoma (Fig. 3). Fig. 3 (A) Expanded pale looking marginal zone (arrows) surrounding a lymphoid follicle (LF), H&E ×100. (B) Marginal zone cells with round to slightly irregular nuclei and moderate amount of pale cytoplasm, H&E ×400