Hematopathology Practice Questions

Q: Which of the following diagnoses give the hematological picture as given below?

Saturnism. ***Saturnism*** - The image displays **basophilic stippling** in red blood cells, which is a classic hematological finding in **lead poisoning** (saturnism). - Lead inhibits enzymes involved in **heme synthesis**, leading to the accumulation of ribosomal RNA aggregates detected as basophilic stippling. *Arsenic poisoning* - Arsenic poisoning can cause various hematological abnormalities, including **anemia** and **pancytopenia**, but **basophilic stippling** is not a characteristic feature. - Its mechanism of toxicity involves inhibiting enzyme function and cellular respiration, distinct from lead's effect on heme synthesis. *Chronic iron toxicity* - Chronic iron toxicity typically leads to **hemochromatosis**, with iron deposition in various organs, and can cause **liver damage** and **cardiomyopathy**. - It does not primarily manifest with **basophilic stippling** in red blood cells. *Minamata disease* - Minamata disease is a severe neurological syndrome caused by **mercury poisoning**, particularly **methylmercury**. - It primarily affects the **nervous system**, causing symptoms like ataxia, sensory disturbances, and tremors, and does not typically present with **basophilic stippling**.

Q: An elderly male patient presented with clinical symptoms and signs consistent with possible multiple myeloma. Electrophoresis shows an M spike, and immunofixation findings are shown below. Which of the following statements best corresponds to the findings?

Multiple myeloma with increased IgG. ***Multiple myeloma with increased IgG*** - The immunofixation image shows a distinct, *monoclonal band (M spike)* in the **IgG lane (G)**, corresponding to the initial electrophoresis (ELP) M spike [1]. There is also a corresponding band in the **kappa light chain (K)** lane [1]. - The presence of a dominant band in IgG, along with a matching light chain (either kappa or lambda), indicates an **IgG monoclonal gammopathy**, which is characteristic of the most common type of multiple myeloma [1]. *Multiple myeloma with increased IgM* - This option would correspond to a strong, monoclonal band in the **IgM lane (M)**, which is not the case here. The 'M' lane in the image shows a faint/normal band, not an increased M spike. - Increased IgM monoclonal protein (M spike) is characteristic of **Waldenström macroglobulinemia**, not typically multiple myeloma [2]. *Multiple myeloma with increased IgA* - If the patient had IgA multiple myeloma, there would be a prominent monoclonal band in the **IgA lane (A)**, which is not observed in this immunofixation result. The 'A' lane shows a considerably smaller band compared to IgG. - IgA multiple myeloma is a less common subtype than IgG myeloma and would present with an IgA M spike [1]. *Waldenström macroglobulinemia* - Waldenström macroglobulinemia is characterized by a monoclonal gammopathy of the **IgM type**, which would present as a distinct M spike in the IgM lane [2]. - The immunofixation clearly shows an **IgG M spike**, ruling out Waldenström macroglobulinemia based on the type of monoclonal gammopathy [2]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 608-609. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 606-607.

Q: Identify the image and the disease it is associated with: ![img-30.jpeg](img-30.jpeg)

Gaucher's disease. ***Gaucher's disease*** - The image shows **Gaucher cells** - characteristic lipid-laden macrophages with a distinctive **"crumpled tissue paper" or "wrinkled silk" cytoplasmic appearance** and eccentric nuclei [1] - These cells are pathognomonic for **Gaucher's disease**, an **autosomal recessive lysosomal storage disorder** caused by **glucocerebrosidase deficiency** [1] - Accumulation of **glucocerebroside** in macrophages creates the characteristic morphology seen in bone marrow, spleen, and liver [1] - Caused by mutations in the *GBA* gene on chromosome 1 [1] *Tay-Sachs disease* - Autosomal recessive disorder caused by **hexosaminidase A deficiency** leading to **GM2 ganglioside accumulation** [2] - Characteristic findings include **cherry-red spot on macula** and neuronal ballooning, not the macrophage changes seen in this image [2] - Does not produce Gaucher cells *Sandhoff's disease* - Caused by deficiency of both **hexosaminidase A and B** due to *HEXB* gene mutations - Similar to Tay-Sachs with GM2 ganglioside accumulation affecting neurons - Does not produce the characteristic macrophage morphology shown in the image *Fabry's disease* - **X-linked recessive** disorder caused by **alpha-galactosidase A deficiency** - Accumulation of **globotriaosylceramide** in vascular endothelial cells - Histology may show lipid deposits in vessels and kidney, not the distinctive Gaucher cells seen here **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 162-163. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, p. 161.

Q: Identify the gene commonly involved in the condition shown in the image?

BRAF V600E. ***BRAF V600E*** - The image displays cells with **Langerhans cell morphology**, including folded nuclei and abundant pale cytoplasm, which are characteristic of **Langerhans cell histiocytosis (LCH)** [1]. - The **BRAF V600E mutation** is the most common genetic alteration found in LCH, present in about 50-60% of cases and activating the MAPK pathway [1]. *RAS* - **RAS mutations** are frequently seen in various cancers, including colorectal adenocarcinoma, pancreatic adenocarcinoma, and non-small cell lung cancer. - While RAS pathway activation can occur in LCH, a direct RAS mutation is not the most common genetic driver; rather, downstream effectors like BRAF V600E are more prominent [1]. *RET* - **RET mutations** are primarily associated with **medullary thyroid carcinoma** (in both sporadic and inherited forms like MEN 2A and MEN 2B) and can also be found in certain types of lung cancer. - They are not a characteristic genetic alteration for Langerhans cell histiocytosis. *P53* - The **TP53 gene** encodes the tumor suppressor protein p53, and mutations in this gene are among the most frequent genetic alterations across a wide spectrum of human cancers. - Although p53 plays a critical role in cell cycle regulation and apoptosis, it is not a primary or common driver mutation specifically associated with Langerhans cell histiocytosis [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 629-630.

Q: In a patient with general fatigue, normal TLC/ DLC, and superficial discrete lymphadenopathy, with lymph node biopsy showing effaced architecture, atypical cells with indented nuclei and prominent nucleoli, positive for CD10 and BCL-2, which of the following is the most likely diagnosis?

Follicular Lymphoma. ***Follicular Lymphoma*** - The description of **atypical cells with indented nuclei** (cleaved cells) and **prominent nucleoli**, along with **CD10** and **BCL-2 positivity**, are classic features of follicular lymphoma [1], [2]. - **Effaced architecture** of the lymph node, and **superficial discrete lymphadenopathy** in an adult, further support this diagnosis [1]. *Mycosis Fungoides* - This is a **cutaneous T-cell lymphoma** characterized by skin lesions (patches, plaques, tumors) and rarely involves lymph nodes in the early stages. - It would show **CD3+ T-cells** on immunophenotyping, not CD10+ B-cells. *Burkitt's Lymphoma* - Characterized by rapidly growing tumors and a **"starry sky"** histological pattern with numerous macrophages [3]. - While it is CD10 positive, it would typically be **BCL-2 negative** due to the specific translocation involved (t(8;14) c-MYC/IgH). *Hodgkin Lymphoma* - Defined by the presence of **Reed-Sternberg cells** (large, multinucleated cells with prominent nucleoli, often described as "owl's eye" appearance). - These cells are typically **CD15+ and CD30+**, and BCL-2 expression is less specific and CD10 is not characteristic. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 561-562. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 602-604. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, p. 606.

Q: A 7 year old child presents with fever, erythematous rash, and bone pain. $X$ - ray of the skull shows multiple lytic lesions. Skin biopsy shows prominent nuclear grooves with eosinophils as in the image below. Immunohistochemistry for S100, CD1a is also shown in the images below. What would be the diagnosis ?

Langerhans cell histiocytosis. ***Langerhans cell histiocytosis*** - The combination of **fever**, **erythematous rash**, **bone pain with lytic lesions**, and **prominent nuclear grooves with eosinophils** on skin biopsy, along with positive **S100** and **CD1a** immunohistochemistry, is highly characteristic of Langerhans cell histiocytosis [1]. - This condition is a clonal proliferation of Langerhans cells, which can affect bone, skin, and other organs, particularly in children [1]. *Erdheim-Chester disease* - This is a rare, non-Langerhans cell histiocytosis typically affecting adults, characterized by **xanthogranulomatous infiltration** of various organs. - While it can involve bones with **sclerotic lesions**, **lytic lesions** are uncommon, and the histological features with **nuclear grooves** and **eosinophils** are distinct from LCH. *Juvenile xanthogranuloma* - This is a benign, usually solitary, self-resolving histiocytic proliferation that typically presents as a **cutaneous nodule** in infants or young children. - Systemic involvement is rare, and it does not typically cause **lytic bone lesions** or exhibit the characteristic nuclear features of Langerhans cells. *Rosai-Dorfman disease* - This is a rare, benign histicocytic disorder characterized by **massive lymphadenopathy**, particularly cervical, and is often associated with the presence of **emperipolesis** (lymphocytes within histiocytes). - It does not typically present with **lytic bone lesions**, **eosinophilic infiltration**, or positive staining for **CD1a** or **S100** in the same manner as LCH. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 629-630.

Question 1

Which of the following diagnoses give the hematological picture as given below?

Accepted Answer

Saturnism

Answer

Arsenic poisoning

Answer

Chronic iron toxicity

Answer

Minamata disease

Question 2

An elderly male patient presented with clinical symptoms and signs consistent with possible multiple myeloma. Electrophoresis shows an M spike, and immunofixation findings are shown below. Which of the following statements best corresponds to the findings?

Accepted Answer

Multiple myeloma with increased IgG

Answer

Multiple myeloma with increased IgM

Answer

Multiple myeloma with increased IgA

Answer

Waldenström macroglobulinemia

Question 3

Identify the image and the disease it is associated with:
![img-30.jpeg](img-30.jpeg)

Accepted Answer

Gaucher's disease

Answer

Tay-Sachs disease

Answer

Sandhoff's disease

Answer

Fabry's disease

Question 4

Identify the gene commonly involved in the condition shown in the image?

Accepted Answer

BRAF V600E

Answer

RAS

Answer

RET

Answer

P53

Question 5

A 34-year-old female presented with low hemoglobin, platelet count of $25,000 / \mathrm{mm}^{3}$, raised PT and APTT. The image shows a peripheral smear. Which of the following fusion genes is affected?

Accepted Answer

PML-RARA

Answer

IGH-NSD2

Answer

INV 16

Answer

RUNX1-RUNX1T1

Question 6

Which of the following statements regarding von Willebrand disease is incorrect?

Accepted Answer

Type 1 von Willebrand disease presents with severe bleeding since childhood.

Answer

Type 2 von Willebrand disease is associated with a moderate bleeding tendency.

Answer

Type 3 von Willebrand disease is associated with severe deficiency of factor VIII.

Answer

Type 2 von Willebrand disease includes subtypes with varying defects in von Willebrand factor.

Question 7

In a patient with general fatigue, normal TLC/ DLC, and superficial discrete lymphadenopathy, with lymph node biopsy showing effaced architecture, atypical cells with indented nuclei and prominent nucleoli, positive for CD10 and BCL-2, which of the following is the most likely diagnosis?

Accepted Answer

Follicular Lymphoma

Answer

Mycosis Fungoides

Answer

Burkitt's Lymphoma

Answer

Hodgkin Lymphoma

Question 8

A 35 year old woman presents with fatigue. Investigations revealed the following: Hb, 5 g/dL; MCH, 24; low MCV; leukocytes, 11,000/ uL, and platelets, 5 lakhs. The peripheral smear is shown below. What is the diagnosis?

Normal values:
- Mean cell volume (MCV); 90 ± 8 fL
- Mean cell Hb(MCH); 30 ± 3 pg

Accepted Answer

Iron - deficiency anemia

Answer

Essential thrombocytosis

Answer

Thalassemia major

Answer

Megaloblastic anemia

Question 9

Match the following cell types/patterns (Column A) with their associated malignancies (Column B):

Column A (Cell types/patterns):
a) Faggot cell
b) Popcorn cell
c) Starry sky pattern
d) Cerebriform nuclei

Column B (Associated malignancies):
1) Acute promyelocytic leukemia
2) Lymphocyte-predominant Hodgkin's lymphoma
3) Burkitt lymphoma
4) Sezary syndrome

Accepted Answer

1-a, 2-b, 3-c, 4-d

Answer

1-a, 2-d, 3-c, 4-b

Answer

1-b, 2-c, 3-a, 4-d

Answer

1-b, 2-a, 3-d, 4-c

Question 10

A 7 year old child presents with fever, erythematous rash, and bone pain. $X$ - ray of the skull shows multiple lytic lesions. Skin biopsy shows prominent nuclear grooves with eosinophils as in the image below. Immunohistochemistry for S100, CD1a is also shown in the images below. What would be the diagnosis ?

Accepted Answer

Langerhans cell histiocytosis

Answer

Erdheim-Chester disease

Answer

Juvenile xanthogranuloma

Answer

Rosai-Dorfman disease

Hematopathology — MCQs

Hematopathology — MCQs

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