Inflammatory Myofibroblastic Tumor With Rapid Recurrence and Distant Metastasis: Report of a Rare Case.

Inflammatory myofibroblastic tumors (IMTs) are rare spindle cell tumors clinically, morphologically, and genetically heterogeneous, mimicking many other reactive and neoplastic lesions and creating great diagnostic problems. Although it is generally characterized by oncogene-derived proliferation of myofibroblasts in a background of polyclonal inflammatory cell infiltrates, morphological variations do occur requiring immunohistochemistry and molecular genetics to confirm the diagnosis. It encompasses a wide age range, and locations, mostly said to be of intermediate grade having a low risk of recurrence and metastasis. However, its biological behavior and course are variable and unpredictable. Here, we report a case of thoracic IMT in a 32-year-old adult female presenting with a history of fever, cough, and chest pain associated with neutrophilic leukocytosis. Radiological investigations revealed a large mass in the thoracic region with possibilities of hydatid cyst and neurogenic tumor. Initial core needle biopsy specimen and subsequent local resection specimen revealed the diagnosis of IMT on histopathology and immunohistochemistry, having conventional morphology with expression of Anaplastic lymphoma kinase (ALK) protein. The patient developed rapid local recurrence and was started with first-generation ALK inhibitor Crizotinib. After a brief period of response, she developed vertebral and brain metastasis within a short span of time and was switched to a third-generation ALK inhibitor, Lorlatinib. The patient is on regular follow-up, has stable disease, and maintains a good quality of life after two years of diagnosis.

Multiple myeloma presenting with coexisting severe marrow hypoplasia.

A 68-year-old man was referred to us with clinical and bone marrow (BM) features compatible with aplastic anemia. The correct diagnosis, hypoplasia of the BM coexisting with multiple myeloma, became apparent after noting rouleaux in the peripheral blood (PB) and approximately 50% plasma cells in the touch imprint of one of the two BM biopsies done. As standard therapy was precluded, the patient was put on dexamethasone but died within 4 days. This first case of the coexistence of untreated myeloma with aplastic BM shows that even apparently straightforward hypoplasia seen on the BM biopsy should be interpreted in conjunction with the PB smear and the BM touch imprint findings. Among other things, the BM biopsy and imprint should be repeated if the PB has findings such as rouleaux that do not fit with straightforward aplastic anemia. The combination of myeloma and BM aplasia precludes standard therapy and is rapidly fatal.

Pregnancy Associated Breast Cancer: Awareness is the Key to Diagnosis -A Case Report.

Pregnancy-associated breast cancer (PABC) is defined as breast cancer that occurs during pregnancy or within one year of delivery. PABCs are typically found at advanced stage and are reported to have higher recurrence and mortality rates as compared to non PABC. Although it is said to be rare its incidence is increasing. Very little data is available on PABC among Indian women. Delay in diagnosis is one of the major causes of aggressive presentation of PABC. This is due to the fact that most of the lesions presenting during this period are benign and lactational changes hamper the detection of mass clinically as well as by various investigative methods. Paget's disease of breast, usually reported in elderly woman, when occurs in lactating breast may mimic benign eczematous lesion. Increased awareness among patients as well as clinicians is required to detect this highly aggressive form of breast cancer at an early and treatable stage. Treatment is by multidisciplinary approach and depends upon the gestational stage. Here we report a case of PABC in a lactating woman presenting with Paget's disease because such case may be under diagnosed as breast feeding related lesion leading to delayed diagnosis.

Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Adrenal Gland: Report of a Rare Case Posing Diagnostic Challenge with the Role of Immunohistochemistry in the Diagnosis.

Histological diagnosis of adrenal tumors is often challenging as diverse groups of tumors, both primaries and metastatic, may be seen in the adrenal gland with overlapping morphological features. Immunohistochemistry (IHC) plays the most important role in their diagnosis. Perivascular epithelioid cell tumor (PEComa), a rarely reported tumor in the adrenal gland, shares many features with another rare tumor sarcomatoid adrenocortical carcinoma (ACC). Extensive immunohistochemical study is required to distinguish this tumor from adrenocortical carcinoma and from other morphologically similar tumors. The unique combination of immunoreactivity for melanocytic markers, such as HMB-45 and Melan A, and myogenic markers, such as smooth muscle actin, is the hallmark of PEComas biological behavior, and prognosis of malignant PEComas is yet to be fully understood. Few cases of malignant PEComa have been reported in the adrenal gland. We report a case of malignant PEComa of the adrenal gland posing diagnostic challenge and compare its morphological and immunohistochemical features with those of sarcomatoid ACC.

Detection of Abnormal Hemoglobin Variants by HPLC Method: Common Problems with Suggested Solutions.

Thalassemia and thalassemic hemoglobinopathies pose serious health problem leading to severe morbidity and mortality in Indian population. Plethora of hemoglobin variants is prevalent in multiethnic Indian population. The aim of the present study was to analyze laboratory aspects, namely, hematological profile and HPLC findings of the hemoglobin variants detected, and to discuss problems that we faced in diagnosis in a routine clinical laboratory. We screened a total of 4800 cases in a hospital based population of North India in a 2-years period of by automated HPLC method using the Variant Hemoglobin Testing System (Variant II Beta Thalassemia Short Program, Bio-Rad Laboratories) under the experimental conditions specified by the manufacturer. Whole blood in EDTA was used and red cell indices were determined using automated hematology analyzer. We detected 290 cases with abnormal variants in which beta thalassemia was the most common followed by hemoglobin E. Here, we discuss the laboratory aspects of various hemoglobin disorders and diagnostic difficulties in cases like borderline HbA2 values, presence of silent mutation, alpha thalassemia gene, and few rare variants which at times require correlation with genetic study. Special attention was given to HbA2 level even in presence of a structural variant to rule out coinheritance of beta thalassemia gene.

Cytodiagnosis of papillary carcinoma of the breast: Report of a case with histological correlation.

Papillary lesions of the breast pose diagnostic challenges on aspiration cytology due to overlapping features of benign and malignant entities. Accurate cytologic diagnosis of papillary breast carcinoma cannot usually be made pre-operatively. We present the case of an adult female who underwent fine-needle aspiration (FNA) of a left breast lump. FNA smears were highly cellular showing cohesive clusters, complex papillary fragments and few singly dispersed intact cells. The tumor cells had hyperchromatic nuclei, prominent nucleoli and mild nuclear pleomorphism. A cytologic impression of papillary lesion, possibly malignant (in view of high cellularity, complex papillae and single intact cells) was rendered. The lesion proved to be a papillary carcinoma with microscopic foci of stromal invasion on histologic examination. Papillary carcinoma, an uncommon subtype of breast carcinoma, should be considered while evaluating a papillary lesion with complex branching papillae containing delicate fibrovascular cores and singly lying intact atypical cells.

Impact of routine histopathological examination of gall bladder specimens on early detection of malignancy - a study of 4,115 cholecystectomy specimens.

Gall bladder carcinoma is the most common cancer of biliary tree, characterized by rapid progression and a very high mortality rate. Detection at an early stage, however, is indicative of a very good prognosis and prolonged survival. The practice of histopathological examination of gall bladder specimens removed for clinically benign conditions and its usefulness has been a subject of controversy. The present prospective study was carried out over a period of four years in order to find out the incidence of unsuspected gallbladder carcinoma in cholecystectomy specimens received in our histopathology laboratory and to analyze their clinico-pathological features. A total of 4,115 cases were examined. Incidentally detected cases comprised 0.44%, which accounted for 72% of all gall bladder carcinomas detected. The majority were in an early, surgically resectable stage. From the results of this study we recommend that in India and other countries with relatively high incidences of gall bladder carcinoma, all cholecystectomy specimens should be submitted to histopathology laboratory, as this is the only means by which malignancies can be detected at an early, potentially curable stage.

Plasma cell leukemia--a study of 28 cases from India.

Plasma cell leukemia (PCL) is a rare neoplasm that has not been comprehensively reported in an Indian population. We report the clinico-pathological features of 28 cases studied during 1999-2008. Organomegaly and bleeding tendency was common in primary PCL but not in secondary. Misdiagnosis as acute leukemia or the leukemic phase of lymphoma on the initial peripheral blood smear examination was frequent (31.4% cases) in the primary form of PCL. This is best addressed by an emphasis on the morphological appearances and confirmation by simple serum electrophoresis rather than by more sophisticated testing that may not be widely available. Response to treatment is poor and PCL has a poor prognosis, a situation that may be amenable to improvement by a better understanding of the biology of the disease.